Clinical Sequencing Evidence-Generating ResearchActive August, 2020 to July, 2023Publications
2022
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. https://doi.org/10.1016/j.gim.2022.02.006. 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. https://doi.org/10.1016/j.gim.2022.03.007. 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. https://doi.org/10.1016/j.gim.2021.11.020. 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. https://doi.org/10.1186/s13073-022-01139-2. 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. https://doi.org/10.3389/fgene.2022.882703. 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. https://doi.org/10.1016/j.jmoldx.2022.03.011. 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. https://doi.org/10.1186/s13053-022-00217-1. 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). https://doi.org/10.1377/hlthaff.2021.01316. PMID: 35254936.Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review
Douglas MP, Kumar A. (2022). J Pers Med. https://doi.org/10.3390/jpm12040557. 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. https://doi.org/10.1007/s12687-021-00563-y. 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. https://doi.org/10.1016/j.gim.2021.11.017. 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. https://doi.org/10.1016/j.gim.2022.06.004. 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. https://doi.org/10.1016/j.ejmg.2022.104496. 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. https://doi.org/10.1016/j.cancergen.2022.01.001. 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. https://doi.org/10.1007/s10865-021-00253-7. 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. https://doi.org/10.1016/j.gim.2021.11.012. 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. https://doi.org/10.1016/j.gim.2022.07.025. 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. https://doi.org/10.1002/cncr.34349. 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. https://doi.org/10.1002/ajmg.a.62765. 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. https://doi.org/10.1002/jgc4.1459. 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. https://doi.org/10.1186/s13053-022-00231-3. 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. https://doi.org/10.1007/s10689-021-00243-3. 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. https://doi.org/10.1016/j.xhgg.2022.100120. 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. https://doi.org/10.1186/s13053-022-00213-5. 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. https://doi.org/10.1016/j.gim.2021.09.021. 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. https://doi.org/10.1016/j.gim.2022.01.008. 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. https://doi.org/10.3389/fgene.2022.883225. 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. https://doi.org/10.1016/j.gim.2021.08.009. 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. https://doi.org/10.1016/j.gim.2022.02.004. 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. https://doi.org/10.2217/pme-2021-0091. 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. https://doi.org/10.1002/jgc4.1476. 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. https://doi.org/10.1002/pbc.29859. 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. https://doi.org/10.1016/j.ejmg.2021.104407. 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. https://doi.org/10.1007/s00439-022-02449-6. 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. https://doi.org/10.1007/s40271-021-00558-4. 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. https://doi.org/10.1016/j.gim.2021.12.001. 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. https://doi.org/10.1002/pd.6109. 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. https://doi.org/10.1002/pd.6197. 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. https://doi.org/10.1002/pd.5973. PMID: 34057224.2021
Scaling Genetic Counseling in the Genomics Era
Amendola LM, Golden-Grant K, Scollon S. (2021). Annu Rev Genomics Hum Genet. https://doi.org/10.1146/annurev-genom-110320-121752. PMID: 33722076.Private payer coverage policies for ApoE-e4 genetic testing
Arias JJ, Tyler AM, Douglas MP, Phillips KA. (2021). Genet Med. https://doi.org/10.1038/s41436-020-01042-4. 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. https://doi.org/10.1038/s41436-020-01083-9. 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. https://doi.org/10.1002/jgc4.1363. 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. https://doi.org/10.1002/jgc4.1424. 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. https://doi.org/10.1080/23294515.2021.1907475. 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. https://doi.org/10.1016/j.ajhg.2021.04.007. 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. https://doi.org/10.1210/clinem/dgaa609. 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. https://doi.org/10.1016/j.pec.2021.01.030. 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. https://doi.org/10.1111/cge.13917. 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. https://doi.org/10.1002/jgc4.1378. 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. https://doi.org/10.1016/j.pec.2020.10.038. 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. https://doi.org/10.1038/s41436-021-01296-6. 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. https://doi.org/10.1017/cts.2021.855. 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. https://doi.org/10.1016/j.xhgg.2021.100023. 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. https://doi.org/10.1007/s10865-021-00222-0. 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. https://doi.org/10.1038/s41436-021-01125-w. 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. https://doi.org/10.1126/science.abg5266. 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. https://doi.org/10.1038/s41436-020-01020-w. 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. https://doi.org/10.1080/23294515.2020.1823907. 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. https://doi.org/10.1016/j.ajhg.2021.04.002. 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. https://doi.org/10.2217/pme-2020-0075. 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. https://doi.org/10.1200/PO.20.00375. 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. https://doi.org/10.1111/cge.13962. 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. https://doi.org/10.1016/j.cct.2021.106432. PMID: 33984519.Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities
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