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CSERClinical Sequencing Evidence-Generating ResearchActive August, 2020 to July, 2023

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Conducting clinical genomics research during the COVID-19 pandemic: Lessons learned from the CSER consortium experience

Kraft SA, Russell H, Bensen JT, Bonini KE, Robinson JO, Sahin-Hodoglugil N, Renna K, Hindorff LA, Kaufman D, Horowitz CR, Waltz M, Zepp JM, Knight SJ. (2023). Am J Med Genet A. PMID: 36341765.

Detection of mosaic variants using genome sequencing in a large pediatric cohort

Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Jobanputra V, Horowitz CR, Kenny EE, Wasserstein MP, Gelb BD. (2023). Am J Med Genet A. PMID: 36563179.

Lessons learned while starting multi-institutional genetics research in diverse populations: A report from the Clinical Sequencing Evidence-Generating Research (CSER) consortium

Russell H, Smith HS, Bensen JT, Murali P, Ferket BS, Finnila C, Hindorff LA, Sahin-Hodoglugil N. (2023). Contemp Clin Trials. PMID: 36567057.

The PrU: Development and validation of a measure to assess personal utility of genomic results

Turbitt E, Kohler JN, Angelo F, Miller IM, Lewis KL, Goddard KAB, Wilfond BS, Biesecker BB, Leo MC. (2023). Genet Med. PMID: 36516964.

Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access

Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP; CHARM Study. (2022). Genet Med. PMID: 35305866.

Prevalence and prediction of medical distrust in a diverse medical genomic research sample

Angelo F, Veenstra D, Knerr S, Devine B. (2022). Genet Med. PMID: 35384843.

Genome sequencing as a first-line diagnostic test for hospitalized infants

Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. (2022). Genet Med. PMID: 34930662.

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

Bowling KM, Thompson ML, Kelly MA, Scollon S, Slavotinek AM, Powell BC, Kirmse BM, Hendon LG, Brothers KB, Korf BR, Cooper GM, Greally JM, Hurst ACE. (2022). Genome Med. PMID: 36414972.

"Let's Just Wait Until She's Born": Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research

Brown JEH, Zamora AN, Outram S, Sparks TN, Lianoglou BR, Norstad M, Sahin Hodoglugil NN, Norton ME, Ackerman SL. (2022). Front Genet. PMID: 35669190.

A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels

Chandramohan R, Reuther J, Gandhi I, Voicu H, Alvarez KR, Plon SE, Lopez-Terrada DH, Fisher KE, Parsons DW, Roy A. (2022). J Mol Diagn. PMID: 35487348.

Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system

Crain PR, Zepp JM, Gille S, Jenkins L, Kauffman TL, Shuster E, Goddard KAB, Wilfond BS, Hunter JE. (2022). Hered Cancer Clin Pract. PMID: 35436948.

Multicancer Screening Tests: Anticipating And Addressing Considerations For Payer Coverage And Patient Access

Deverka PA, Douglas MP, Phillips KA. (2022). Health Aff (Millwood). PMID: 35254936.

Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review

Douglas MP, Kumar A. (2022). J Pers Med. PMID: 35455673.

Hereditary cancer panel testing challenges and solutions for the latinx community: costs, access, and variants

Douglas MP, Lin GA, Trosman JR, Phillips KA. (2022). J Community Genet. PMID: 34743282.

Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings

Duenas DM, Shipman KJ, Porter KM, Shuster E, Guerra C, Reyes A, Kauffman TL, Hunter JE, Goddard KAB, Wilfond BS, Kraft SA. (2022). Genet Med. PMID: 34906471.

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Ferket BS, Baldwin Z, Murali P, Pai A, Mittendorf KF, Russell HV, Chen F, Lynch FL, Lich KH, Hindorff LA, Savich R, Slavotinek A, Smith HS, Gelb BD, Veenstra DL. (2022). Genet Med. PMID: 35833928.

Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review

Gangaram B, Devine WP, Slavotinek A. (2022). Eur J Med Genet. PMID: 35398350.

Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome

Garcia A, Desrosiers L, Scollon S, Gruner S, Reuther J, Gandhi I, Patil N, Fuller MY, Dai H, Muzny D, Gibbs RA, Bercaw-Pratt JL, Rao SL, Rainusso N, Fisher KE, Lin FY, Plon SE, Parsons DW, Roy A. (2022). Cancer Genet. PMID: 35026696.

The role of future-oriented affect in engagement with genomic testing results

Gillman AS, Iles IA, Klein WMP, Biesecker BB, Lewis KL, Biesecker LG, Ferrer RA. (2022). J Behav Med. PMID: 34480685.

The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort

Johnston JJ, Brennan ML, Radenbaugh B, Yoo SJ, Hernandez SM; NHGRI Reverse Phenotyping Core; Lewis KL, Katz AE, Manolio TA, Biesecker LG. (2022). Genet Med. PMID: 34906458.

An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial

Joseph G, Leo MC, Riddle L, Guerra C, Amendola LM, Gilmore MJ, Rolf BA, Dorschner MO, Zepp J, Biesecker BB, Caruncho M, Hunter JE, Keast E, Lewis HS, Duenas D, Kauffman T, Bulkley JE, Anderson KP, Jarvik GP, Goddard KAB, Wilfond BS; CHARM Study Team. (2022). Genet Med. PMID: 36053287.

Risk-reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system

Knerr S, Guo B, Mittendorf KF, Feigelson HS, Gilmore MJ, Jarvik GP, Kauffman TL, Keast E, Lynch FL, Muessig KR, Okuyama S, Veenstra DL, Zepp JM, Goddard KAB, Devine B. (2022). Cancer. PMID: 35679147.

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies

Kortbawi H, Ames E, Pritchard A, Devine P, van Ziffle J, Slavotinek A. (2022). Am J Med Genet A. PMID: 35491967.

Influence of payer coverage and out-of-pocket costs on ordering of NGS panel tests for hereditary cancer in diverse settings

Lin GA, Trosman JR, Douglas MP, Weldon CB, Scheuner MT, Kurian A, Phillips KA. (2022). J Genet Couns. PMID: 34231930.

Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews

Mittendorf KF, Lewis HS, Duenas DM, Eubanks DJ, Gilmore MJ, Goddard KAB, Joseph G, Kauffman TL, Kraft SA, Lindberg NM, Reyes AA, Shuster E, Syngal S, Ukaegbu C, Zepp JM, Wilfond BS, Porter KM. (2022). Hered Cancer Clin Pract. PMID: 35689290.

Adaptation and early implementation of the PREdiction model for gene mutations (PREMM(5)™) for lynch syndrome risk assessment in a diverse population

Mittendorf KF, Ukaegbu C, Gilmore MJ, Lindberg NM, Kauffman TL, Eubanks DJ, Shuster E, Allen J, McMullen C, Feigelson HS, Anderson KP, Leo MC, Hunter JE, Sasaki SO, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. (2022). Fam Cancer. PMID: 33754278.

Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience

Muenzen KD, Amendola LM, Kauffman TL, Mittendorf KF, Bensen JT, Chen F, Green R, Powell BC, Kvale M, Angelo F, Farnan L, Fullerton SM, Robinson JO, Li T, Murali P, Lawlor JMJ, Ou J, Hindorff LA, Jarvik GP, Crosslin DR. (2022). HGG Adv. PMID: 35707062.

Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system

Muessig KR, Zepp JM, Keast E, Shuster EE, Reyes AA, Arnold B, Ingphakorn C, Gilmore MJ, Kauffman TL, Hunter JE, Knerr S, Feigelson HS, Goddard KAB. (2022). Hered Cancer Clin Pract. PMID: 35144679.

The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research

Norstad M, Outram S, Brown JEH, Zamora AN, Koenig BA, Risch N, Norton ME, Slavotinek A, Ackerman SL. (2022). Genet Med. PMID: 34906477.

Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium

O'Daniel JM, Ackerman S, Desrosiers LR, Rego S, Knight SJ, Mollison L, Byfield G, Anderson KP, Danila MI, Horowitz CR, Joseph G, Lamoure G, Lindberg NM, McMullen CK, Mittendorf KF, Ramos MA, Robinson M, Sillari C, Madden EB; CSER Stakeholder and Engagement Work Group. (2022). Genet Med. PMID: 35227608.

Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis

Outram SM, Brown JEH, Zamora AN, Sahin-Hodoglugil N, Ackerman SL. (2022). Front Genet. PMID: 35923691.

US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)

Phillips KA, Trosman JR, Douglas MP, Gelb BD, Ferket BS, Hindorff LA, Slavotinek AM, Berg JS, Russell HV, Devine B, Greve V, Smith HS. (2022). Genet Med. PMID: 34906461.

Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach

Rego S, Hoban H, Outram S, Zamora AN, Chen F, Sahin-Hodoglugil N, Anguiano B, Norstad M, Yip T, Lianoglou B, Sparks TN, Norton ME, Koenig BA, Slavotinek AM, Ackerman SL. (2022). Genet Med. PMID: 35396980.

Development and evaluation of an exome sequencing training course for medical interpreters

Riddle L, Karliner LS, Livaudais-Toman J, Guerra C, Roat CE, Rope AF, Wade A, Caruncho M, Zepp JM, Giang J, Wilfond BS, Joseph G. (2022). Per Med. PMID: 35171038.

Barriers to family history knowledge and family communication among LGBTQ+ individuals in the context of hereditary cancer risk assessment

Rolf BA, Schneider JL, Amendola LM, Davis JV, Mittendorf KF, Schmidt MA, Jarvik GP, Wilfond BS, Goddard KAB, Ezzell Hunter J. (2022). J Genet Couns. PMID: 34302314.

Clinical and molecular features of pediatric cancer patients with Lynch syndrome

Scollon S, Eldomery MK, Reuther J, Lin FY, Potter SL, Desrosiers L, McClain KL, Smith V, Su JM, Venkatramani R, Hu J, Korchina V, Zarrin-Khameh N, Gibbs RA, Muzny DM, Eng C, Roy A, Parsons DW, Plon SE. (2022). Pediatr Blood Cancer. PMID: 35713195.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A

Slavotinek A, Lefebvre M, Brehin AC, Thauvin C, Patrier S, Sparks TN, Norton M, Yu J, Huang E. (2022). Eur J Med Genet. PMID: 34942405.

Predicting genes from phenotypes using human phenotype ontology (HPO) terms

Slavotinek A, Prasad H, Yip T, Rego S, Hoban H, Kvale M. (2022). Hum Genet. PMID: 35357580.

Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development

Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. (2022). Patient. PMID: 34658003.

Testing and extending strategies for identifying genetic disease-related encounters in pediatric patients

Spees LP, Hicklin K, Adams MC, Farnan L, Bensen JT, Gilleskie DB, Berg JS, Powell BC, Lich KH. (2022). Genet Med. PMID: 35034852.

Disparities in the acceptance of chromosomal microarray at the time of prenatal genetic diagnosis

Swanson K, Loeliger KB, Chetty SP, Sparks TN, Norton ME. (2022). Prenat Diagn. PMID: 35106791.

The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing

Swanson K, Norton ME, Lianoglou BR, Jelin AC, Hodoglugil U, Van Ziffle J, Devine P, Sparks TN. (2022). Prenat Diagn. PMID: 35723972.

Preference for secondary findings in prenatal and pediatric exome sequencing

Swanson K, Sparks TN, Lianoglou BR, Chen F, Downum S, Patel S, Rego S, Yip T, Van Ziffle J, Koenig BA, Slavotinek AM, Norton ME. (2022). Prenat Diagn. PMID: 34057224.

Scaling Genetic Counseling in the Genomics Era

Amendola LM, Golden-Grant K, Scollon S. (2021). Annu Rev Genomics Hum Genet. PMID: 33722076.

Private payer coverage policies for ApoE-e4 genetic testing

Arias JJ, Tyler AM, Douglas MP, Phillips KA. (2021). Genet Med. PMID: 33420342.

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Bean LJH, Scheuner MT, Murray MF, Biesecker LG, Green RC, Monaghan KG, Palomaki GE, Sharp RR, Trotter TL, Watson MS, Powell CM; ACMG Board of Directors. (2021). Genet Med. PMID: 33790423.

A review and definition of 'usual care' in genetic counseling trials to standardize use in research

Biesecker BB, Lillie SE, Amendola LM, Donohue KE, East KM, Foreman AKM, Gilmore MJ, Greve V, Liangolou B, O'Daniel JM, Odgis JA, Rego S, Rolf B, Scollon S, Suckiel SA, Zepp J, Joseph G. (2021). J Genet Couns. PMID: 33278053.

Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort

Chan PA, Lewis KL, Biesecker BB, Erby LH, Fasaye GA, Epps S, Biesecker LG, Turbitt E. (2021). J Genet Couns. PMID: 33876469.

The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life

Childerhose JE, Rich C, East KM, Kelley WV, Simmons S, Finnila CR, Bowling K, Amaral M, Hiatt SM, Thompson M, Gray DE, Lawlor JMJ, Myers RM, Barsh GS, Lose EJ, Bebin ME, Cooper GM, Brothers KB. (2021). AJOB Empir Bioeth. PMID: 33843487.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. (2021). Am J Hum Genet. PMID: 33909992.

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea

Delaney A, Burkholder AB, Lavender CA, Plummer L, Mericq V, Merino PM, Quinton R, Lewis KL, Meader BN, Albano A, Shaw ND, Welt CK, Martin KA, Seminara SB, Biesecker LG, Bailey-Wilson JE, Hall JE. (2021). J Clin Endocrinol Metab. PMID: 32870266.

Hope versus reality: Parent expectations of genomic testing

Donohue KE, Dolan SM, Watnick D, Gallagher KM, Odgis JA, Suckiel SA, Teitelman N, Gelb BD, Kenny EE, Wasserstein MP, Horowitz CR, Bauman LJ. (2021). Patient Educ Couns. PMID: 33640235.

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

Donohue KE, Gooch C, Katz A, Wakelee J, Slavotinek A, Korf BR. (2021). Clin Genet. PMID: 33818754.

Adaptation of the working alliance inventory for the assessment of the therapeutic alliance in genetic counseling

Erby LH, Wisniewski T, Lewis KL, Hernandez C, Biesecker LG, Biesecker BB. (2021). J Genet Couns. PMID: 33554391.

A decision aid for additional findings in genomic sequencing: Development and pilot testing

Freed AS, Gruß I, McMullen CK, Leo MC, Kauffman TL, Porter KM, Muessig KR, Eubanks D, Goddard KAB, Wilfond BS, Liles EG. (2021). Patient Educ Couns. PMID: 33191058.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. (2021). Genet Med. PMID: 34400813.

Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium

Gutierrez AM, Robinson JO, Outram SM, Smith HS, Kraft SA, Donohue KE, Biesecker BB, Brothers KB, Chen F, Hailu B, Hindorff LA, Hoban H, Hsu RL, Knight SJ, Koenig BA, Lewis KL, Lich KH, O'Daniel JM, Okuyama S, Tomlinson GE, Waltz M, Wilfond BS, Ackerman SL, Majumder MA. (2021). J Clin Transl Sci. PMID: 34888063.

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

Hiatt SM, Lawlor JMJ, Handley LH, Ramaker RC, Rogers BB, Partridge EC, Boston LB, Williams M, Plott CB, Jenkins J, Gray DE, Holt JM, Bowling KM, Bebin EM, Grimwood J, Schmutz J, Cooper GM. (2021). HGG Adv. PMID: 33937879.

Dyadic concordance and associations of beliefs with intentions to learn carrier results from genomic sequencing

Huelsnitz CO, Turbitt E, Taber JM, Lewis KL, Biesecker LG, Biesecker BB, Klein WMP. (2021). J Behav Med. PMID: 33987754.

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. (2021). Genet Med. PMID: 33767344.

Complicated legacies: The human genome at 20

Jones KM, Cook-Deegan R, Rotimi CN, Callier SL, Bentley AR, Stevens H, Phillips KA, Jansen JP, Weyant CF, Roberts DE, Zielinski D, Erlich Y, Garrison NA, Carroll SR, Ossorio PN, Moreau Y, Wang M. (2021). Science. PMID: 33542123.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium; Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. (2021). Genet Med. PMID: 33299146.

Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study

Kraft SA, Porter KM, Duenas DM, Guerra C, Joseph G, Lee SS, Shipman KJ, Allen J, Eubanks D, Kauffman TL, Lindberg NM, Anderson K, Zepp JM, Gilmore MJ, Mittendorf KF, Shuster E, Muessig KR, Arnold B, Goddard KAB, Wilfond BS. (2021). AJOB Empir Bioeth. PMID: 32981477.

Engagement and return of results preferences among a primarily African American genomic sequencing research cohort

Lewis KL, Turbitt E, Chan PA, Epps S, Biesecker BB, Erby LAH, Fasaye GA, Biesecker LG. (2021). Am J Hum Genet. PMID: 33887195.

Creating accessible Spanish language materials for Clinical Sequencing Evidence-Generating Research consortium genomic projects: challenges and lessons learned

Lindberg NM, Gutierrez AM, Mittendorf KF, Ramos MA, Anguiano B, Angelo F, Joseph G. (2021). Per Med. PMID: 34448595.

Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling

Mangum R, Reuther J, Bertrand KC, Chandramohan R, Kukreja MK, Paulino AC, Muzny D, Hu J, Gibbs RA, Curry DJ, Malbari F, Chintagumpala MM, Adesina AM, Fisher KE, Mack SC, Plon SE, Roy A, Parsons DW, Lin FY. (2021). JCO Precis Oncol. PMID: 34651095.

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74

Mardy AH, Hodoglugil U, Yip T, Slavotinek AM. (2021). Clin Genet. PMID: 33748949.

Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations

Mittendorf KF, Kauffman TL, Amendola LM, Anderson KP, Biesecker BB, Dorschner MO, Duenas DM, Eubanks DJ, Feigelson HS, Gilmore MJ, Hunter JE, Joseph G, Kraft SA, Lee SSJ, Leo MC, Liles EG, Lindberg NM, Muessig KR, Okuyama S, Porter KM, Riddle LS, Rolf BA, Rope AF, Zepp JM, Jarvik GP, Wilfond BS, Goddard KAB; CHARM study team. (2021). Contemp Clin Trials. PMID: 33984519.

Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities

Mittendorf KF, Knerr S, Kauffman TL, Lindberg NM, Anderson KP, Feigelson HS, Gilmore MJ, Hunter JE, Joseph G, Kraft SA, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. (2021). JCO Precis Oncol. PMID: 34778694.

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis

Mone F, Eberhardt RY, Hurles ME, Mcmullan DJ, Maher ER, Lord J, Chitty LS, Dempsey E, Homfray T, Giordano JL, Wapner RJ, Sun L, Sparks TN, Norton ME, Kilby MD. (2021). Ultrasound Obstet Gynecol. PMID: 33847422.

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. (2021). Trials. PMID: 33446240.

GenomeDiver: a platform for phenotype-guided medical genomic diagnosis

Pearson NM, Stolte C, Shi K, Beren F, Abul-Husn NS, Bertier G, Brown K, Diaz GA, Odgis JA, Suckiel SA, Horowitz CR, Wasserstein M, Gelb BD, Kenny EE, Gagnon C, Jobanputra V, Bloom T, Greally JM. (2021). Genet Med. PMID: 34113009.

Availability and funding of clinical genomic sequencing globally

Phillips KA, Douglas MP, Wordsworth S, Buchanan J, Marshall DA. (2021). BMJ Glob Health. PMID: 33574068.

Development and early implementation of an Accessible, Relational, Inclusive and Actionable approach to genetic counseling: The ARIA model

Riddle L, Amendola LM, Gilmore MJ, Guerra C, Biesecker B, Kauffman TL, Anderson K, Rope AF, Leo MC, Caruncho M, Jarvik GP, Wilfond B, Goddard KAB, Joseph G. (2021). Patient Educ Couns. PMID: 33549385.

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial

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A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings

Sapp JC, Facio FM, Cooper D, Lewis KL, Modlin E, van der Wees P, Biesecker LG. (2021). Genet Med. PMID: 34433902.

Laboratory business models and practices: implications for availability and access to germline genetic testing

Scheuner MT, Douglas MP, Sales P, Ackerman SL, Phillips KA. (2021). Genet Med. PMID: 33958748.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

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Conceptualization of utility in translational clinical genomics research

Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. (2021). Am J Hum Genet. PMID: 34687653.

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

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Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Suckiel SA, O'Daniel JM, Donohue KE, Gallagher KM, Gilmore MJ, Hendon LG, Joseph G, Lianoglou BR, Mathews JM, Norton ME, Odgis JA, Poss AF, Rego S, Scollon S, Yip T, Amendola LM. (2021). J Pers Med. PMID: 33805616.

GUÍA: a digital platform to facilitate result disclosure in genetic counseling

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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

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Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood

Ting MA, Reuther J, Chandramohan R, Voicu H, Gandhi I, Liu M, Cortes-Santiago N, Foster JH, Hicks J, Nuchtern J, Scollon S, Plon SE, Chintagumpala M, Rainusso N, Roy A, Parsons DW. (2021). J Pathol. PMID: 34086347.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. (2021). Am J Hum Genet. PMID: 33961779.

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy

Voskobiynyk Y, Battu G, Felker SA, Cochran JN, Newton MP, Lambert LJ, Kesterson RA, Myers RM, Cooper GM, Roberson ED, Barsh GS. (2021). PLoS Genet. PMID: 33411788.

"Is that something that should concern me?": a qualitative exploration of parent understanding of their child's genomic test results

Watnick D, Odgis JA, Suckiel SA, Gallagher KM, Teitelman N, Donohue KE, Gelb BD, Kenny EE, Wasserstein MP, Horowitz CR, Dolan SM, Bauman LJ. (2021). HGG Adv. PMID: 33884375.

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group; Jarvik GP. (2020). Am J Hum Genet. PMID: 33108757.

The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients

Barrus K, Rego S, Yip T, Martin PM, Glen OA, Van Ziffle J, Slavotinek AM. (2020). Am J Med Genet A. PMID: 32902921.

Predictive and Precision Medicine with Genomic Data

Baudhuin LM, Biesecker LG, Burke W, Green ED, Green RC. (2020). Clin Chem. PMID: 31843866.

Genomic Screening for Malignant Hyperthermia Susceptibility

Biesecker LG, Dirksen RT, Girard T, Hopkins PM, Riazi S, Rosenberg H, Stowell K, Weber J. (2020). Anesthesiology. PMID: 32898259.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

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Optimizing genetics online resources for diverse readers

Chang J, Penon-Portmann M, Shieh JT. (2020). Genet Med. PMID: 31767985.

Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing-Based Tests: Challenges, Opportunities, and Potential Solutions

Deverka PA, Douglas MP, Phillips KA. (2020). Value Health. PMID: 32389218.

Private Payer and Medicare Coverage for Circulating Tumor DNA Testing: A Historical Analysis of Coverage Policies From 2015 to 2019

Douglas MP, Gray SW, Phillips KA. (2020). J Natl Compr Canc Netw. PMID: 32634780.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. (2020). Eur J Hum Genet. PMID: 32483341.

Engaging community stakeholders in research on best practices for clinical genomic sequencing

Griesemer I, Staley BS, Lightfoot AF, Bain L, Byrd D, Conway C, Grant TL, Leach B, Milko L, Mollison L, Porter N, Reid S, Smith G, Waltz M, Berg JS, Rini C, O'Daniel JM. (2020). Per Med. PMID: 33026293.

Genetic testing and results disclosure in diverse populations: what does it take?

Horowitz CR. (2020). Genet Med. PMID: 32565545.

Management of Secondary Genomic Findings

Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG. (2020). Am J Hum Genet. PMID: 32619490.

Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol's evolution

Kraft SA, McMullen C, Lindberg NM, Bui D, Shipman K, Anderson K, Joseph G, Duenas DM, Porter KM, Kauffman TL, Koomas A, Ransom CL, Jackson P, Goddard KAB, Wilfond BS, Lee SS. (2020). Genet Med. PMID: 32089547.

Demonstrating 'respect for persons' in clinical research: findings from qualitative interviews with diverse genomics research participants

Kraft SA, Rothwell E, Shah SK, Duenas DM, Lewis H, Muessig K, Opel DJ, Goddard KAB, Wilfond BS. (2020). J Med Ethics. PMID: 33023975.

Acute Statin Administration Reduces Levels of Steroid Hormone Precursors

London E, Tatsi C, Soldin SJ, Wassif CA, Backlund P, Ng D, Biesecker LG, Stratakis CA. (2020). Horm Metab Res. PMID: 32040961.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. (2020). Brain. PMID: 31834374.

Discordant Patient and Clinician Perspectives on the Potential Value of Genetic Services in Safety-Net Clinics

McMullen C, Holup J, Davis JV, Foley P, Jacob L, Cottrell E, Bui DP, Wilfond B, Goddard KA. (2020). J Health Care Poor Underserved. PMID: 33416699.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. (2020). Am J Med Genet A. PMID: 31880405.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study; Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. (2020). Eur J Hum Genet. PMID: 32005960.

Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation

Phillips KA, Douglas MP, Marshall DA. (2020). JAMA. PMID: 33104159.

Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

Popejoy AB, Crooks KR, Fullerton SM, Hindorff LA, Hooker GW, Koenig BA, Pino N, Ramos EM, Ritter DI, Wand H, Wright MW, Yudell M, Zou JY, Plon SE, Bustamante CD, Ormond KE; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group. (2020). Am J Hum Genet. PMID: 32504544.

Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results

Reid AE, Ferrer RA, Kadirvel S, Biesecker BB, Lewis KL, Biesecker LG, Klein WMP. (2020). Soc Sci Med. PMID: 32624263.

Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

Rini C, Henderson GE, Evans JP, Berg JS, Foreman AKM, Griesemer I, Waltz M, O'Daniel JM, Roche MI. (2020). Genet Med. PMID: 31312045.

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine. (2020). N Engl J Med. PMID: 33027564.

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG. (2020). Hum Mutat. PMID: 32720330.

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N. (2020). Epilepsia. PMID: 32645220.

Insights From a Temporal Assessment of Increases in US Private Payer Coverage of Tumor Sequencing From 2015 to 2019

Trosman JR, Douglas MP, Liang SY, Weldon CB, Kurian AW, Kelley RK, Phillips KA. (2020). Value Health. PMID: 32389219.

Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

Trosman JR, Weldon CB, Slavotinek A, Norton ME, Douglas MP, Phillips KA. (2020). Genet Med. PMID: 31501586.

Perceptions of uncertainties about carrier results identified by exome sequencing in a randomized controlled trial

Umstead KL, Han PKJ, Lewis KL, Miller IM, Hepler CL, Thompson LJ, Wolfsberg TG, Nguyen AD, Fredriksen MT, Gibney G, Turbitt E, Biesecker LG, Biesecker BB. (2020). Transl Behav Med. PMID: 31505002.

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty

Waltz M, Prince AER, O'Daniel JM, Foreman AKM, Powell BC, Berg JS. (2020). J Genet Couns. PMID: 31967382.

Personalized Medicine and the Power of Electronic Health Records

Abul-Husn NS, Kenny EE. (2019). Cell. PMID: 30901549.

Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests

Amendola LM, Hart MR, Bennett RL, Horike-Pyne M, Dorschner M, Shirts B, Jarvik GP. (2019). J Genet Couns. PMID: 31317629.

Genomic screening and genomic diagnostic testing-two very different kettles of fish

Biesecker LG. (2019). Genome Med. PMID: 31775856.

Secondary findings in exome slices, virtual panels, and anticipatory sequencing

Biesecker LG. (2019). Genet Med. PMID: 29789698.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group. (2019). Genome Med. PMID: 31892348.

Returning negative results to individuals in a genomic screening program: lessons learned

Butterfield RM, Evans JP, Rini C, Kuczynski KJ, Waltz M, Cadigan RJ, Goddard KAB, Muessig KR, Henderson GE. (2019). Genet Med. PMID: 29875426.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. (2019). Am J Hum Genet. PMID: 30639322.

Participant Engagement in Translational Genomics Research: Respect for Persons-and Then Some

Childerhose JE, Finnila CR, Yu JH, Koenig BA, McEwen J, Berg SL, Wilfond BS, Appelbaum PS, Brothers KB. (2019). Ethics Hum Res. PMID: 31541538.

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B

Darras N, Ha TK, Rego S, Martin PM, Barroso E, Slavotinek AM, Cilio MR. (2019). Am J Med Genet A. PMID: 31465153.

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

Dean M, Messiaen L, Cooper GM, Amaral MD, Rashid S, Korf BR, Standaert DG. (2019). Neurology. PMID: 31501304.

Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited

Douglas MP, Parker SL, Trosman JR, Slavotinek AM, Phillips KA. (2019). Genet Med. PMID: 29997388.

Rethinking the "open future" argument against predictive genetic testing of children

Garrett JR, Lantos JD, Biesecker LG, Childerhose JE, Chung WK, Holm IA, Koenig BA, McEwen JE, Wilfond BS, Brothers K; Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group. (2019). Genet Med. PMID: 30894702.

Psychological adaptation to diagnostic genomic sequencing results: The role of hope fulfillment

Griesemer I, Moore E, Khan C, Roche M, Henderson G, Rini C. (2019). Health Psychol. PMID: 30958015.

Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families

Gutierrez AM, Statham EE, Robinson JO, Slashinski MJ, Scollon S, Bergstrom KL, Street RL Jr, Parsons DW, Plon SE, McGuire AL. (2019). Patient Educ Couns. PMID: 30581014.

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

Harrison SM, Biesecker LG, Rehm HL. (2019). Curr Protoc Hum Genet. PMID: 31479589.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. (2019). Genet Med. PMID: 30287922.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. (2019). Genet Med. PMID: 30670880.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM. (2019). Am J Hum Genet. PMID: 30879638.

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research

Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC. (2019). Am J Hum Genet. PMID: 31104772.

Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party

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The evolving landscape of expanded carrier screening: challenges and opportunities

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Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes

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Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior

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Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

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Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

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Can precision medicine help achieve the goal of reducing care when the risks exceed the benefits?

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Emergence of Hybrid Models of Genetic Testing Beyond Direct-to-Consumer or Traditional Labs

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The refractory epilepsy screening tool for Lennox-Gastaut syndrome (REST-LGS)

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A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

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Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies

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Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings

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Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents

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Emerging RAS superfamily conditions involving GTPase function

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

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Ethnic identity and engagement with genome sequencing research

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Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium

Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS; Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group. (2019). Per Med. PMID: 31313633.

Qualitative study of system-level factors related to genomic implementation

Zebrowski AM, Ellis DE, Barg FK, Sperber NR, Bernhardt BA, Denny JC, Dexter PR, Ginsburg GS, Horowitz CR, Johnson JA, Levy MA, Orlando LA, Pollin TI, Skaar TC, Kimmel SE. (2019). Genet Med. PMID: 30467402.

Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories

Ackerman SL, Koenig BA. (2018). AJOB Empir Bioeth. PMID: 29131714.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium; Plon SE, Jarvik GP. (2018). Am J Hum Genet. PMID: 30193136.

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

Amendola LM, Robinson JO, Hart R, Biswas S, Lee K, Bernhardt BA, East K, Gilmore MJ, Kauffman TL, Lewis KL, Roche M, Scollon S, Wynn J, Blout C. (2018). J Genet Couns. PMID: 29497922.

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial

Biesecker BB, Lewis KL, Umstead KL, Johnston JJ, Turbitt E, Fishler KP, Patton JH, Miller IM, Heidlebaugh AR, Biesecker LG. (2018). JAMA Intern Med. PMID: 29356820.

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group. (2018). Genet Med. PMID: 29543229.

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

Bush LW, Beck AE, Biesecker LG, Evans JP, Hamosh A, Holm IA, Martin CL, Richards CS, Rehm HL. (2018). Genet Med. PMID: 29323668.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group; Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. (2018). Am J Hum Genet. PMID: 30526861.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. (2018). Am J Hum Genet. PMID: 29656860.

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

Christensen KD, Bernhardt BA, Jarvik GP, Hindorff LA, Ou J, Biswas S, Powell BC, Grundmeier RW, Machini K, Karavite DJ, Pennington JW, Krantz ID, Berg JS, Goddard KAB. (2018). Genet Med. PMID: 29388940.

Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening

Clarke EV, Schneider JL, Lynch F, Kauffman TL, Leo MC, Rosales AG, Dickerson JF, Shuster E, Wilfond BS, Goddard KAB. (2018). PLoS One. PMID: 30020962.

Impact of HIPAA's minimum necessary standard on genomic data sharing

Evans BJ, Jarvik GP. (2018). Genet Med. PMID: 28914268.

Precision Medicine: From Science To Value

Ginsburg GS, Phillips KA. (2018). Health Aff (Millwood). PMID: 29733705.

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS. (2018). Neurol Genet. PMID: 29417091.

Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications

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Systematic reanalysis of genomic data improves quality of variant interpretation

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM. (2018). PLoS Genet. PMID: 30500825.

Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies

Johnston J, Lantos JD, Goldenberg A, Chen F, Parens E, Koenig BA; members of the NSIGHT Ethics and Policy Advisory Board. (2018). Hastings Cent Rep. PMID: 30133723.

Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results

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Patient actions and reactions after receiving negative results from expanded carrier screening

Kraft SA, Schneider JL, Leo MC, Kauffman TL, Davis JV, Porter KM, McMullen CK, Wilfond BS, Goddard KAB. (2018). Clin Genet. PMID: 29293279.

Disclosure of cardiac variants of uncertain significance results in an exome cohort

Lawal TA, Lewis KL, Johnston JJ, Heidlebaugh AR, Ng D, Gaston-Johansson FG, Klein WMP, Biesecker BB, Biesecker LG. (2018). Clin Genet. PMID: 29383714.

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial

Lewis KL, Umstead KL, Johnston JJ, Miller IM, Thompson LJ, Fishler KP, Biesecker LG, Biesecker BB. (2018). Am J Hum Genet. PMID: 29526281.

Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing

Lynch FL, Himes P, Gilmore MJ, Morris EM, Schneider JL, Kauffman TL, Shuster E, Reiss JA, Dickerson JF, Leo MC, Davis JV, McMullen CK, Wilfond BS, Goddard KAB. (2018). J Genet Couns. PMID: 29423569.

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number

Lyons JJ, Stotz SC, Chovanec J, Liu Y, Lewis KL, Nelson C, DiMaggio T, Jones N, Stone KD, Sung H, Biesecker LG, Colicos MA, Milner JD. (2018). Genet Med. PMID: 28933792.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. (2018). Ann Neurol. PMID: 30269351.

Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

Phillips KA, Deverka PA, Hooker GW, Douglas MP. (2018). Health Aff (Millwood). PMID: 29733704.

Insurance coverage for genomic tests

Phillips KA, Trosman JR, Deverka PA, Quinn B, Tunis S, Neumann PJ, Chambers JD, Garrison LP Jr, Douglas MP, Weldon CB. (2018). Science. PMID: 29674586.

New Medicare Coverage Policy for Next-Generation Tumor Sequencing: A Key Shift in Coverage Criteria With Broad Implications Beyond Medicare

Phillips KA, Trosman JR, Weldon CB, Douglas MP. (2018). JCO Precis Oncol. PMID: 31073549.

Evolving Payer Coverage Policies on Genomic Sequencing Tests: Beginning of the End or End of the Beginning?

Phillips KA. (2018). JAMA. PMID: 29710095.

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS. (2018). Am J Hum Genet. PMID: 29754767.

Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence

Reid AE, Taber JM, Ferrer RA, Biesecker BB, Lewis KL, Biesecker LG, Klein WMP. (2018). Health Psychol. PMID: 29745680.

The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

Rini C, Khan CM, Moore E, Roche MI, Evans JP, Berg JS, Powell BC, Corbie-Smith G, Foreman AKM, Griesemer I, Lee K, O'Daniel JM, Henderson GE. (2018). Genet Med. PMID: 29261173.

A case for expanding carrier testing to include actionable X-linked disorders

Rope AF, Kauffman TL, Himes P, Amendola LM, Punj S, Akkari Y, Potter A, Davis JV, Schneider JL, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, Wilfond BS, Goddard KAB. (2018). Clin Case Rep. PMID: 30455898.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N; NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium. (2018). Genet Med. PMID: 29144510.

"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing

Skinner D, Roche MI, Weck KE, Raspberry KA, Foreman AKM, Strande NT, Berg JS, Evans JP, Henderson GE. (2018). Genet Med. PMID: 29593351.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study; McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. (2018). Hum Genet. PMID: 29740699.

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study

Taber JM, Klein WMP, Lewis KL, Johnston JJ, Biesecker LG, Biesecker BB. (2018). Genet Med. PMID: 28771245.

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). (2018). Genet Med. PMID: 29300386.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Thompson ML, Finnila CR, Bowling KM, Brothers KB, Neu MB, Amaral MD, Hiatt SM, East KM, Gray DE, Lawlor JMJ, Kelley WV, Lose EJ, Rich CA, Simmons S, Levy SE, Myers RM, Barsh GS, Bebin EM, Cooper GM. (2018). Genet Med. PMID: 29790872.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. (2018). Neuron. PMID: 30449657.

From the Past to the Present: Insurer Coverage Frameworks for Next-Generation Tumor Sequencing

Trosman JR, Weldon CB, Gradishar WJ, Benson AB 3rd, Cristofanilli M, Kurian AW, Ford JM, Balch A, Watkins J, Phillips KA. (2018). Value Health. PMID: 30224110.

Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes

Turbitt E, Roberts MC, Ferrer RA, Taber JM, Lewis KL, Biesecker LG, Biesecker BB, Klein WM. (2018). Eur J Hum Genet. PMID: 29476166.

Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment

Weymann D, Veenstra DL, Jarvik GP, Regier DA. (2018). Eur J Hum Genet. PMID: 29802320.

Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making

Wilfond BS, Kauffman TL, Jarvik GP, Reiss JA, Richards CS, McMullen C, Gilmore M, Himes P, Kraft SA, Porter KM, Schneider JL, Punj S, Leo MC, Dickerson JF, Lynch FL, Clarke E, Rope AF, Lutz K, Goddard KAB. (2018). Health Aff (Millwood). PMID: 29733724.

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

Wolf SM, Amendola LM, Berg JS, Chung WK, Clayton EW, Green RC, Harris-Wai J, Henderson GE, Jarvik GP, Koenig BA, Lehmann LS, McGuire AL, O'Rourke P, Somkin C, Wilfond BS, Burke W. (2018). Genet Med. PMID: 28858330.

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

Wolf SM, Scholtes E, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS. (2018). J Law Med Ethics. PMID: 30008546.

Clinical providers' experiences with returning results from genomic sequencing: an interview study

Wynn J, Lewis K, Amendola LM, Bernhardt BA, Biswas S, Joshi M, McMullen C, Scollon S. (2018). BMC Med Genomics. PMID: 29739461.

Exploring the importance of case-level clinical information for variant interpretation

Berg JS. (2017). Genet Med. PMID: 27561084.

PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing

Biesecker BB, Woolford SW, Klein WMP, Brothers KB, Umstead KL, Lewis KL, Biesecker LG, Han PKJ. (2017). Clin Genet. PMID: 27925165.

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Blanchet P, Bebin M, Bruet S, Cooper GM, Thompson ML, Duban-Bedu B, Gerard B, Piton A, Suckno S, Deshpande C, Clowes V, Vogt J, Turnpenny P, Williamson MP, Alembik Y; Clinical Sequencing Exploratory Research Study Consortium; Deciphering Developmental Disorders Consortium; Glasgow E, McNeill A. (2017). PLoS Genet. PMID: 28859103.

Genomic diagnosis for children with intellectual disability and/or developmental delay

Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. (2017). Genome Med. PMID: 28554332.

Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results

Brothers KB, East KM, Kelley WV, Wright MF, Westbrook MJ, Rich CA, Bowling KM, Lose EJ, Bebin EM, Simmons S, Myers JA, Barsh G, Myers RM, Cooper GM, Pulley JM, Rothstein MA, Clayton EW. (2017). Genet Med. PMID: 27561086.

Online Education and e-Consent for GeneScreen, a Preventive Genomic Screening Study

Cadigan RJ, Butterfield R, Rini C, Waltz M, Kuczynski KJ, Muessig K, Goddard KAB, Henderson GE. (2017). Public Health Genomics. PMID: 29069655.

Distributive justice, diversity, and inclusion in precision medicine: what will success look like?

Cohn EG, Henderson GE, Appelbaum PS. (2017). Genet Med. PMID: 27490116.

Returning Results in Biobank Research: Global Trends and Solutions

De Clercq E, Kaye J, Wolf SM, Koenig BA, Elger BS. (2017). Genet Test Mol Biomarkers. PMID: 28146646.

Finding the Rare Pathogenic Variants in a Human Genome

Evans JP, Powell BC, Berg JS. (2017). JAMA. PMID: 28492888.

Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing

Gilmore MJ, Schneider J, Davis JV, Kauffman TL, Leo MC, Bergen K, Reiss JA, Himes P, Morris E, Young C, McMullen C, Wilfond BS, Goddard KAB. (2017). J Genet Couns. PMID: 28315134.

Discordance in selected designee for return of genomic findings in the event of participant death and estate executor

Goodman JL, Amendola LM, Horike-Pyne M, Trinidad SB, Fullerton SM, Burke W, Jarvik GP. (2017). Mol Genet Genomic Med. PMID: 28361104.

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. (2017). Genet Med. PMID: 28492529.

Disclosing genetic risk of Alzheimer's disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study

Guan Y, Roter DL, Erby LH, Wolff JL, Gitlin LN, Roberts JS, Green RC, Christensen KD. (2017). Patient Educ Couns. PMID: 28012682.

Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure

Gutierrez AM, Robinson JO, Statham EE, Scollon S, Bergstrom KL, Slashinski MJ, Parsons DW, Plon SE, McGuire AL, Street RL. (2017). Per Med. PMID: 29749861.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, et al. (2017). Am J Hum Genet. PMID: 29100083.

A taxonomy of medical uncertainties in clinical genome sequencing

Han PKJ, Umstead KL, Bernhardt BA, Green RC, Joffe S, Koenig B, Krantz I, Waterston LB, Biesecker LG, Biesecker BB. (2017). Genet Med. PMID: 28102863.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. (2017). Am J Hum Genet. PMID: 28017373.

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS. (2017). Circ Cardiovasc Genet. PMID: 28611029.

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Haskell GT, Jensen BC, Skrzynia C, Pulikkotil T, Tilley CR, Lu Y, Marchuk DS, Ann Samsa L, Wilhelmsen KC, Lange E, Patterson C, Evans JP, Berg JS. (2017). J Heart Valve Dis. PMID: 29762926.

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KAB. (2017). Genet Med. PMID: 28079899.

Engagement and communication among participants in the ClinSeq Genomic Sequencing Study

Hooker GW, Umstead KL, Lewis KL, Koehly LK, Biesecker LG, Biesecker BB. (2017). Genet Med. PMID: 27763633.

Mastering genomic terminology

Jarvik GP, Evans JP. (2017). Genet Med. PMID: 27657676.

The NextGen Study: patient motivation for participation in genome sequencing for carrier status

Kauffman TL, Irving SA, Leo MC, Gilmore MJ, Himes P, McMullen CK, Morris E, Schneider J, Wilfond BS, Goddard KAB. (2017). Mol Genet Genomic Med. PMID: 28944234.

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Richards CS, McMullen C, Nickerson D, Dorschner MO, Goddard KA. (2017). Contemp Clin Trials. PMID: 27940182.

Defining personal utility in genomics: A Delphi study

Kohler JN, Turbitt E, Lewis KL, Wilfond BS, Jamal L, Peay HL, Biesecker LG, Biesecker BB. (2017). Clin Genet. PMID: 28218387.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. (2017). Cell. PMID: 28340351.

Precision medicine in pediatric oncology: Lessons learned and next steps

Mody RJ, Prensner JR, Everett J, Parsons DW, Chinnaiyan AM. (2017). Pediatr Blood Cancer. PMID: 27748023.

Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity

Moore EG, Roche M, Rini C, Corty EW, Girnary Z, O'Daniel JM, Lin FC, Corbie-Smith G, Evans JP, Henderson GE, Berg JS. (2017). Public Health Genomics. PMID: 30086550.

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening

Ng D, Hong CS, Singh LN, Johnston JJ, Mullikin JC, Biesecker LG. (2017). Genet Med. PMID: 27537706.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. (2017). Genet Med. PMID: 27811861.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A; ClinGen Resource. (2017). Genome Med. PMID: 28081714.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. (2017). N Engl J Med. PMID: 27959697.

Is "incidental finding" the best term?: a study of patients' preferences

Tan N, Amendola LM, O'Daniel JM, Burt A, Horike-Pyne MJ, Boshe L, Henderson GE, Rini C, Roche MI, Hisama FM, Burke W, Wilfond B, Jarvik GP. (2017). Genet Med. PMID: 27490114.

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP. (2017). Genet Med. PMID: 28518170.

Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research

Wynn J, Martinez J, Duong J, Chiuzan C, Phelan JC, Fyer A, Klitzman RL, Appelbaum PS, Chung WK. (2017). J Genet Couns. PMID: 28035592.

When "Actionable" Genomic Sequencing Results Cannot Be Acted Upon

Zikmund-Fisher BJ. (2017). JAMA Oncol. PMID: 27657856.

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

Abou Tayoun AN, Krock B, Spinner NB. (2016). Expert Rev Mol Diagn. PMID: 27388938.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. (2016). Am J Hum Genet. PMID: 27392081.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. (2016). Am J Hum Genet. PMID: 27181684.

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

Aronson S, Mahanta L, Ros LL, Clark E, Babb L, Oates M, Rehm H, Lebo M. (2016). J Pers Med. PMID: 26805890.

Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees

Baptista NM, Christensen KD, Carere DA, Broadley SA, Roberts JS, Green RC. (2016). Genet Med. PMID: 26820063.

Applications of Genomic Sequencing in Pediatric CNS Tumors

Bavle AA, Lin FY, Parsons DW. (2016). Oncology (Williston Park). PMID: 27188671.

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

Beck TF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG. (2016). Clin Chem. PMID: 26847218.

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. (2016). Genet Med. PMID: 26270767.

Long QT Syndrome and Potentially Pathogenic Genetic Variants

Biesecker LG. (2016). JAMA. PMID: 27299623.

Overcalling secondary findings

Biesecker LG. (2016). Genet Med. PMID: 26986879.

Recommendations for the integration of genomics into clinical practice

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. (2016). Genet Med. PMID: 27171546.

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority

Brothers KB, Holm IA, Childerhose JE, Antommaria AHM, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS; Pediatrics Workgroup of the Clinical Sequencing Exploratory Research (CSER) Consortium. (2016). J Pediatr. PMID: 26477867.

Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study

Cacioppo CN, Chandler AE, Towne MC, Beggs AH, Holm IA. (2016). PLoS One. PMID: 27082877.

Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing

Carere DA, Kraft P, Kaphingst KA, Roberts JS, Green RC. (2016). Genet Med. PMID: 25812042.

Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized Trial

Christensen KD, Roberts JS, Whitehouse PJ, Royal CD, Obisesan TO, Cupples LA, Vernarelli JA, Bhatt DL, Linnenbringer E, Butson MB, Fasaye GA, Uhlmann WR, Hiraki S, Wang N, Cook-Deegan R, Green RC; REVEAL Study Group*. (2016). Ann Intern Med. PMID: 26810768.

Are physicians prepared for whole genome sequencing? a qualitative analysis

Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Murray MF, Green RC, McGuire AL; MedSeq Project Team. (2016). Clin Genet. PMID: 26080898.

Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice

Cohen SA, Laurino M, Bowen DJ, Upton MP, Pritchard C, Hisama F, Jarvik G, Fichera A, Sjoding B, Bennett RL, Naylor L, Jacobson A, Burke W, Grady WM. (2016). Cancer. PMID: 26480326.

Family health history reporting is sensitive to small changes in wording

Conway-Pearson LS, Christensen KD, Savage SK, Huntington NL, Weitzman ER, Ziniel SI, Bacon P, Cacioppo CN, Green RC, Holm IA. (2016). Genet Med. PMID: 27148937.

Toward clinical genomics in everyday medicine: perspectives and recommendations

Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. (2016). Expert Rev Mol Diagn. PMID: 26810587.

Incorporating genetic counseling into clinical care for children and adolescents with cancer

Everett JN, Mody RJ, Stoffel EM, Chinnaiyan AM. (2016). Future Oncol. PMID: 26888175.

No Panacea: Next-Gen Sequencing Will Not Mitigate Adoptees' Lack of Genetic Family Health History

Fullerton SM. (2016). Am J Bioeth. PMID: 27901429.

Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome

Gallego CJ, Perez ML, Burt A, Amendola LM, Shirts BH, Pritchard CC, Hisama FM, Bennett RL, Veenstra DL, Jarvik GP. (2016). J Genet Couns. PMID: 26637299.

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine

Garofalo A, Sholl L, Reardon B, Taylor-Weiner A, Amin-Mansour A, Miao D, Liu D, Oliver N, MacConaill L, Ducar M, Rojas-Rudilla V, Giannakis M, Ghazani A, Gray S, Janne P, Garber J, Joffe S, Lindeman N, Wagle N, Garraway LA, Van Allen EM. (2016). Genome Med. PMID: 27460824.

Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool

Garrett LT, Hickman N, Jacobson A, Bennett RL, Amendola LM, Rosenthal EA, Shirts BH. (2016). J Genet Couns. PMID: 27422780.

Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study

Gray SW, Park ER, Najita J, Martins Y, Traeger L, Bair E, Gagne J, Garber J, Jänne PA, Lindeman N, Lowenstein C, Oliver N, Sholl L, Van Allen EM, Wagle N, Wood S, Garraway L, Joffe S. (2016). Genet Med. PMID: 26866579.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. (2016). Am J Hum Genet. PMID: 27392080.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. (2016). Am J Hum Genet. PMID: 27181682.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M. (2016). Neurol Genet. PMID: 27872899.

Assessing the reproducibility of exome copy number variations predictions

Hong CS, Singh LN, Mullikin JC, Biesecker LG. (2016). Genome Med. PMID: 27503473.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA. (2016). Genet Med. PMID: 27124788.

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

Jarvik GP, Browning BL. (2016). Am J Hum Genet. PMID: 27236918.

Generating a taxonomy for genetic conditions relevant to reproductive planning

Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS. (2016). Am J Med Genet A. PMID: 26889673.

Reclassification of genetic-based risk predictions as GWAS data accumulate

Krier J, Barfield R, Green RC, Kraft P. (2016). Genome Med. PMID: 26884246.

Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial)

Kullo IJ, Jouni H, Austin EE, Brown SA, Kruisselbrink TM, Isseh IN, Haddad RA, Marroush TS, Shameer K, Olson JE, Broeckel U, Green RC, Schaid DJ, Montori VM, Bailey KR. (2016). Circulation. PMID: 26915630.

Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle

Lane WJ, Westhoff CM, Uy JM, Aguad M, Smeland-Wagman R, Kaufman RM, Rehm HL, Green RC, Silberstein LE; MedSeq Project. (2016). Transfusion. PMID: 26634332.

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

Leo MC, McMullen C, Wilfond BS, Lynch FL, Reiss JA, Gilmore MJ, Himes P, Kauffman TL, Davis JV, Jarvik GP, Berg JS, Harding C, Kennedy KA, Simpson DK, Quigley DI, Richards CS, Rope AF, Goddard KA. (2016). Am J Med Genet A. PMID: 26792268.

Understanding self-management behaviors in symptomatic adults with uncertain etiology using an illness perceptions framework

Leos C, Khan CM, Rini C. (2016). J Behav Med. PMID: 26646840.

Participant use and communication of findings from exome sequencing: a mixed-methods study

Lewis KL, Hooker GW, Connors PD, Hyams TC, Wright MF, Caldwell S, Biesecker LG, Biesecker BB. (2016). Genet Med. PMID: 26540156.

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW. (2016). Cold Spring Harb Mol Case Stud. PMID: 27626068.

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

Linderman MD, Nielsen DE, Green RC. (2016). J Pers Med. PMID: 27023617.

Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project

Lupo PJ, Robinson JO, Diamond PM, Jamal L, Danysh HE, Blumenthal-Barby J, Lehmann LS, Vassy JL, Christensen KD, Green RC, McGuire AL; MedSeq Project team. (2016). Per Med. PMID: 27019659.

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, Ho N, Zhao M, Liu Y, O'Connell MP, Trivedi NN, Nelson C, DiMaggio T, Jones N, Matthews H, Lewis KL, Oler AJ, Carlson RJ, Arkwright PD, Hong C, Agama S, Wilson TM, Tucker S, Zhang Y, McElwee JJ, Pao M, Glover SC, Rothenberg ME, Hohman RJ, Stone KD, Caughey GH, Heller T, Metcalfe DD, Biesecker LG, Schwartz LB, Milner JD. (2016). Nat Genet. PMID: 27749843.

The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine

MacRae CA, Vasan RS. (2016). Circulation. PMID: 27324359.

What are people willing to pay for whole-genome sequencing information, and who decides what they receive?

Marshall DA, Gonzalez JM, Johnson FR, MacDonald KV, Pugh A, Douglas MP, Phillips KA. (2016). Genet Med. PMID: 27253734.

Modeling the costs of clinical decision support for genomic precision medicine

Mathias PC, Tarczy-Hornoch P, Shirts BH. (2016). AMIA Jt Summits Transl Sci Proc. PMID: 27570652.

Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

McCullough LB, Slashinski MJ, McGuire AL, Street RL Jr, Eng CM, Gibbs RA, Parsons DW, Plon SE. (2016). Pediatr Blood Cancer. PMID: 26505993.

Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney

Mehra R, Vats P, Cieslik M, Cao X, Su F, Shukla S, Udager AM, Wang R, Pan J, Kasaian K, Lonigro R, Siddiqui J, Premkumar K, Palapattu G, Weizer A, Hafez KS, Wolf JS Jr, Sangoi AR, Trpkov K, Osunkoya AO, Zhou M, Giannico G, McKenney JK, Dhanasekaran SM, Chinnaiyan AM. (2016). Cancer Discov. PMID: 27604489.

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S. (2016). Neurol Genet. PMID: 27830187.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. (2016). Hum Mutat. PMID: 26931382.

Physician perspectives of CYP2C19 and clopidogrel drug-gene interaction active clinical decision support alerts

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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

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'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project

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How to know when physicians are ready for genomic medicine

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Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families"

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It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making

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Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

Wolf SM, Branum R, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS. (2015). J Law Med Ethics. PMID: 26479555.

Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide

Wolf SM, Burke W, Koenig BA. (2015). J Law Med Ethics. PMID: 26479558.

INTRODUCTION: Return of Research Results: What About the Family?

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Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research

Wynn J, Martinez J, Duong J, Zhang Y, Phelan J, Fyer A, Klitzman R, Appelbaum PS, Chung WK. (2015). J Genet Couns. PMID: 25592144.

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Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS. (2015). Hepatology. PMID: 25921221.

Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project

Allen NL, Karlson EW, Malspeis S, Lu B, Seidman CE, Lehmann LS. (2014). Mayo Clin Proc. PMID: 24943692.

Models of consent to return of incidental findings in genomic research

Appelbaum PS, Parens E, Waldman CR, Klitzman R, Fyer A, Martinez J, Price WN 2nd, Chung WK. (2014). Hastings Cent Rep. PMID: 24919982.

Informed consent for return of incidental findings in genomic research

Appelbaum PS, Waldman CR, Fyer A, Klitzman R, Parens E, Martinez J, Price WN 2nd, Chung WK. (2014). Genet Med. PMID: 24158054.

Genetic testing in cardiovascular diseases

Arndt AK, MacRae CA. (2014). Curr Opin Cardiol. PMID: 24717670.

Genetic counselors and the future of clinical genomics

Bernhardt B. (2014). Genome Med. PMID: 25045402.

Diagnostic clinical genome and exome sequencing

Biesecker LG, Green RC. (2014). N Engl J Med. PMID: 25229935.

Why information alone is not enough: behavioral economics and the future of genomic medicine

Blumenthal-Barby JS, McGuire AL, Ubel PA. (2014). Ann Intern Med. PMID: 25329206.

Parental permission for pilot newborn screening research: guidelines from the NBSTRN

Botkin JR, Lewis MH, Watson MS, Swoboda KJ, Anderson R, Berry SA, Bonhomme N, Brosco JP, Comeau AM, Goldenberg A, Goldman E, Therrell B, Levy-Fisch J, Tarini B, Wilfond B; Bioethics and Legal Work Group of the Newborn Screening Translational Research Network. (2014). Pediatrics. PMID: 24394680.

Practical guidance on informed consent for pediatric participants in a biorepository

Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AH, Clayton EW. (2014). Mayo Clin Proc. PMID: 25264176.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, et al. (2014). Genome Biol. PMID: 24667040.

Return of results: ethical and legal distinctions between research and clinical care

Burke W, Evans BJ, Jarvik GP. (2014). Am J Med Genet C Semin Med Genet. PMID: 24616381.

Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers

Carere DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group. (2014). Genome Med. PMID: 25484922.

Addressing the ethical challenges in genetic testing and sequencing of children

Clayton EW, McCullough LB, Biesecker LG, Joffe S, Ross LF, Wolf SM; Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group. (2014). Am J Bioeth. PMID: 24592828.

Refining the structure and content of clinical genomic reports

Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, Fullerton SM, Tarczy-Hornoch P, Byers PH, Jarvik GP. (2014). Am J Med Genet C Semin Med Genet. PMID: 24616401.

A framework for analyzing the ethics of disclosing genetic research findings

Eckstein L, Garrett JR, Berkman BE. (2014). J Law Med Ethics. PMID: 25040383.

Biobanks containing clinical specimens: defining characteristics, policies, and practices

Edwards T, Cadigan RJ, Evans JP, Henderson GE. (2014). Clin Biochem. PMID: 24345347.

Regulatory changes raise troubling questions for genomic testing

Evans BJ, Dorschner MO, Burke W, Jarvik GP. (2014). Genet Med. PMID: 25255365.

Economic regulation of next-generation sequencing

Evans BJ. (2014). J Law Med Ethics. PMID: 25298291.

Mining the human genome after Association for Molecular Pathology v. Myriad Genetics

Evans BJ. (2014). Genet Med. PMID: 24357850.

The First Amendment Right to Speak About the Human Genome

Evans BJ. (2014). Univ Pa J Const Law. PMID: 25473380.

Traditional roles in a non-traditional setting: genetic counseling in precision oncology

Everett JN, Gustafson SL, Raymond VM. (2014). J Genet Couns. PMID: 24578120.

A genetic counselor's guide to using next-generation sequencing in clinical practice

Facio FM, Lee K, O'Daniel JM. (2014). J Genet Couns. PMID: 24151055.

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J. (2014). J Neurol. PMID: 24509643.

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes

Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, Burke W, Patrick DL, Jarvik GP, Veenstra DL. (2014). Contemp Clin Trials. PMID: 24997220.

Integrated next-generation sequencing and avatar mouse models for personalized cancer treatment

Garralda E, Paz K, López-Casas PP, Jones S, Katz A, Kann LM, López-Rios F, Sarno F, Al-Shahrour F, Vasquez D, Bruckheimer E, Angiuoli SV, Calles A, Diaz LA, Velculescu VE, Valencia A, Sidransky D, Hidalgo M. (2014). Clin Cancer Res. PMID: 24634382.

Molecular alterations and biomarkers in colorectal cancer

Grady WM, Pritchard CC. (2014). Toxicol Pathol. PMID: 24178577.

Physicians' attitudes about multiplex tumor genomic testing

Gray SW, Hicks-Courant K, Cronin A, Rollins BJ, Weeks JC. (2014). J Clin Oncol. PMID: 24663044.

Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group

Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, Joffe S, Rini C, Veenstra D, McGuire AL; CSER Consortium Outcomes and Measures Working Group. (2014). Genet Med. PMID: 24625446.

Genetic testing of children for diseases that have onset in adulthood: the limits of family interests

Hardart GE, Chung WK. (2014). Pediatrics. PMID: 25274875.

The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations

Henderson GE, Wolf SM, Kuczynski KJ, Joffe S, Sharp RR, Parsons DW, Knoppers BM, Yu JH, Appelbaum PS. (2014). J Law Med Ethics. PMID: 25264092.

Susceptibility to type 2 diabetes mellitus--from genes to prevention

Hivert MF, Vassy JL, Meigs JB. (2014). Nat Rev Endocrinol. PMID: 24535206.

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board

Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, Brewster SJ, Joffe S, Taylor P. (2014). Genet Med. PMID: 24406460.

Clinical Management of Pediatric Genomic Testing

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Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods

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Return of genomic results to research participants: the floor, the ceiling, and the choices in between

Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group; Burke W. (2014). Am J Hum Genet. PMID: 24814192.

Processes and factors involved in decisions regarding return of incidental genomic findings in research

Klitzman R, Buquez B, Appelbaum PS, Fyer A, Chung WK. (2014). Genet Med. PMID: 24071801.

Managing Expectational Language: Translational genetic professionals consider the clinical potential of next-generation sequencing technologies

Koay PP, Sharp RR. (2014). New Genet Soc. PMID: 24883042.

Returning pleiotropic results from genetic testing to patients and research participants

Kocarnik JM, Fullerton SM. (2014). JAMA. PMID: 24481117.

Have we asked too much of consent?

Koenig BA. (2014). Hastings Cent Rep. PMID: 25043364.

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline

Lee IH, Lee K, Hsing M, Choe Y, Park JH, Kim SH, Bohn JM, Neu MB, Hwang KB, Green RC, Kohane IS, Kong SW. (2014). Hum Mutat. PMID: 24478219.

Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent

Levenseller BL, Soucier DJ, Miller VA, Harris D, Conway L, Bernhardt BA. (2014). J Genet Couns. PMID: 23846343.

Newborn screening controversy: past, present, and future

Lewis MH. (2014). JAMA Pediatr. PMID: 24395113.

Guidelines for investigating causality of sequence variants in human disease

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. (2014). Nature. PMID: 24759409.

Clinically relevant functional annotation of genotype

MacRae CA, Vasan RS. (2014). Circ Cardiovasc Genet. PMID: 24550428.

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. (2014). BMC Bioinformatics. PMID: 25047600.

Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings

McGuire AL, Knoppers BM, Zawati MH, Clayton EW. (2014). Genome Res. PMID: 24676095.

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project. (2014). BMC Med Genet. PMID: 25714468.

Educating physicians in the era of genomic medicine

Murray MF. (2014). Genome Med. PMID: 25031626.

Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record

Nishimura AA, Tarczy-Hornoch P, Shirts BH. (2014). Curr Genet Med Rep. PMID: 26146597.

A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project

Overby CL, Rasmussen LV, Hartzler A, Connolly JJ, Peterson JF, Hedberg RE, Freimuth RR, Shirts BH, Denny JC, Larson EB, Chute CG, Jarvik GP, Ralston JD, Shuldiner AR, Starren J, Kullo IJ, Tarczy-Hornoch P, Williams MS. (2014). AMIA Annu Symp Proc. PMID: 25954402.

Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings

Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AM. (2014). J Clin Oncol. PMID: 24958819.

Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study

Peterson D, Munger C, Crowley J, Corcoran C, Cruchaga C, Goate AM, Norton MC, Green RC, Munger RG, Breitner JC, Welsh-Bohmer KA, Lyketsos C, Tschanz J, Kauwe JS; Alzheimer's Disease Neuroimaging Initiative. (2014). Alzheimers Dement. PMID: 23727081.

Muscle dysfunction in hypertrophic cardiomyopathy: what is needed to move to translation?

Poggesi C, Ho CY. (2014). J Muscle Res Cell Motil. PMID: 24493262.

Genetic information, non-discrimination, and privacy protections in genetic counseling practice

Prince AE, Roche MI. (2014). J Genet Couns. PMID: 25063358.

Do physicians think genomic medicine will be useful for patient care?

Raghavan S, Vassy JL. (2014). Per Med. PMID: 26161114.

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

Scollon S, Bergstrom K, Kerstein RA, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW. (2014). Genome Med. PMID: 25317207.

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes

Shirts BH, Jacobson A, Jarvik GP, Browning BL. (2014). Genet Med. PMID: 24357849.

Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study: rationale and design for a randomized controlled trial evaluating rheumatoid arthritis risk education to first-degree relatives

Sparks JA, Iversen MD, Miller Kroouze R, Mahmoud TG, Triedman NA, Kalia SS, Atkinson ML, Lu B, Deane KD, Costenbader KH, Green RC, Karlson EW. (2014). Contemp Clin Trials. PMID: 25151341.

Utility before business

Teutsch SM, Fielding JE, Khoury MJ, Evans JP. (2014). Genet Med. PMID: 25010054.

Searching for a Rosetta Stone: genetic data and clinical patient management

Triedman JK, MacRae C. (2014). Heart Rhythm. PMID: 25046859.

Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma

Van Allen EM, Mouw KW, Kim P, Iyer G, Wagle N, Al-Ahmadie H, Zhu C, Ostrovnaya I, Kryukov GV, O'Connor KW, Sfakianos J, Garcia-Grossman I, Kim J, Guancial EA, Bambury R, Bahl S, Gupta N, Farlow D, Qu A, Signoretti S, Barletta JA, Reuter V, Boehm J, Lawrence M, Getz G, Kantoff P, Bochner BH, Choueiri TK, Bajorin DF, Solit DB, Gabriel S, D'Andrea A, Garraway LA, Rosenberg JE. (2014). Cancer Discov. PMID: 25096233.

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

Van Allen EM, Wagle N, Stojanov P, Perrin DL, Cibulskis K, Marlow S, Jane-Valbuena J, Friedrich DC, Kryukov G, Carter SL, McKenna A, Sivachenko A, Rosenberg M, Kiezun A, Voet D, Lawrence M, Lichtenstein LT, Gentry JG, Huang FW, Fostel J, Farlow D, Barbie D, Gandhi L, Lander ES, Gray SW, Joffe S, Janne P, Garber J, MacConaill L, Lindeman N, Rollins B, Kantoff P, Fisher SA, Gabriel S, Getz G, Garraway LA. (2014). Nat Med. PMID: 24836576.

Polygenic type 2 diabetes prediction at the limit of common variant detection

Vassy JL, Hivert MF, Porneala B, Dauriz M, Florez JC, Dupuis J, Siscovick DS, Fornage M, Rasmussen-Torvik LJ, Bouchard C, Meigs JB. (2014). Diabetes. PMID: 24520119.

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project. (2014). Trials. PMID: 24645908.

"Use it or lose it" as an alternative approach to protect genetic privacy in personalized medicine

Wagner JK, Mozersky JT, Pyeritz RE. (2014). Urol Oncol. PMID: 24445287.

Metabolite traits and genetic risk provide complementary information for the prediction of future type 2 diabetes

Walford GA, Porneala BC, Dauriz M, Vassy JL, Cheng S, Rhee EP, Wang TJ, Meigs JB, Gerszten RE, Florez JC. (2014). Diabetes Care. PMID: 24947790.

A randomized trial of the clinical utility of genetic testing for obesity: design and implementation considerations

Wang C, Gordon ES, Stack CB, Liu CT, Norkunas T, Wawak L, Christman MF, Green RC, Bowen DJ. (2014). Clin Trials. PMID: 24216219.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. (2014). Am J Hum Genet. PMID: 24791903.

Molecular findings among patients referred for clinical whole-exome sequencing

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. (2014). JAMA. PMID: 25326635.

Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing

Yu JH, Harrell TM, Jamal SM, Tabor HK, Bamshad MJ. (2014). Am J Hum Genet. PMID: 24975944.

The best interests of the child and the return of results in genetic research: international comparative perspectives

Zawati MH, Parry D, Knoppers BM. (2014). BMC Med Ethics. PMID: 25280986.

Parents' preferences for return of results in pediatric genomic research

Ziniel SI, Savage SK, Huntington N, Amatruda J, Green RC, Weitzman ER, Taylor P, Holm IA. (2014). Public Health Genomics. PMID: 24642506.

Direct-to-consumer genomic testing offers little clinical utility but appears to cause minimal harm

Adams SD, Evans JP, Aylsworth AS. (2013). N C Med J. PMID: 24316774.

Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT)

Bennette CS, Trinidad SB, Fullerton SM, Patrick D, Amendola L, Burke W, Hisama FM, Jarvik GP, Regier DA, Veenstra DL. (2013). Genet Med. PMID: 23722871.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group. (2013). Genet Med. PMID: 24195999.

Retention and research use of residual newborn screening bloodspots

Botkin JR, Goldenberg AJ, Rothwell E, Anderson RA, Lewis MH. (2013). Pediatrics. PMID: 23209103.

Recommendations for returning genomic incidental findings? We need to talk!

Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R. (2013). Genet Med. PMID: 23907645.

Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals

Cho D, McGowan ML, Metcalfe J, Sharp RR. (2013). Hum Reprod. PMID: 23589535.

Managing incidental genomic findings: legal obligations of clinicians

Clayton EW, Haga S, Kuszler P, Bane E, Shutske K, Burke W. (2013). Genet Med. PMID: 23448723.

Actionable, pathogenic incidental findings in 1,000 participants' exomes

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. (2013). Am J Hum Genet. PMID: 24055113.

A systematic approach to assessing the clinical significance of genetic variants

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. (2013). Clin Genet. PMID: 24033266.

Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing

Evans BJ. (2013). Genet Med. PMID: 24030435.

The NCGENES project: exploring the new world of genome sequencing

Foreman AK, Lee K, Evans JP. (2013). N C Med J. PMID: 24316776.

Reframing the ethical debate regarding incidental findings in genetic research

Garrett JR. (2013). Am J Bioeth. PMID: 23391061.

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

Goddard KA, Whitlock EP, Berg JS, Williams MS, Webber EM, Webster JA, Lin JS, Schrader KA, Campos-Outcalt D, Offit K, Feigelson HS, Hollombe C. (2013). Genet Med. PMID: 23558254.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics. (2013). Genet Med. PMID: 23788249.

Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional

Green RC, Lupski JR, Biesecker LG. (2013). JAMA. PMID: 23917280.

Stakeholder engagement: a key component of integrating genomic information into electronic health records

Hartzler A, McCarty CA, Rasmussen LV, Williams MS, Brilliant M, Bowton EA, Clayton EW, Faucett WA, Ferryman K, Field JR, Fullerton SM, Horowitz CR, Koenig BA, McCormick JB, Ralston JD, Sanderson SC, Smith ME, Trinidad SB. (2013). Genet Med. PMID: 24030437.

Ethical, legal, and social implications of incorporating genomic information into electronic health records

Hazin R, Brothers KB, Malin BA, Koenig BA, Sanderson SC, Rothstein MA, Williams MS, Clayton EW, Kullo IJ. (2013). Genet Med. PMID: 24030434.

A melanocyte lineage program confers resistance to MAP kinase pathway inhibition

Johannessen CM, Johnson LA, Piccioni F, Townes A, Frederick DT, Donahue MK, Narayan R, Flaherty KT, Wargo JA, Root DE, Garraway LA. (2013). Nature. PMID: 24185007.

Impact of genotype-guided dosing on anticoagulation visits for adults starting warfarin: a randomized controlled trial

Jonas DE, Evans JP, McLeod HL, Brode S, Lange LA, Young ML, Shilliday BB, Bardsley MM, Swinton-Jenkins NJ, Weck KE. (2013). Pharmacogenomics. PMID: 24088130.

Return of secondary genomic findings vs patient autonomy: implications for medical care

Klitzman R, Appelbaum PS, Chung W. (2013). JAMA. PMID: 23917282.

Researchers' views on return of incidental genomic research results: qualitative and quantitative findings

Klitzman R, Appelbaum PS, Fyer A, Martinez J, Buquez B, Wynn J, Waldman CR, Phelan J, Parens E, Chung WK. (2013). Genet Med. PMID: 23807616.

Management of incidental findings in clinical genomic sequencing

Krier JB, Green RC. (2013). Curr Protoc Hum Genet. PMID: 23595601.

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