Exome

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Weisburd B, Sharma R, Pata V, et al. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. Genetics in medicine : official journal of the American College of Medical Genetics. 2024:101336. doi:10.1016/j.gim.2024.101336

Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation.

McGarrity S, Ziehr DR, Austin-Tse CA, Wein MN, Chivukula RR, Oldham WM. Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation. Circulation. Genomic and precision medicine. 2024:e004741. doi:10.1161/CIRCGEN.124.004741

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Lemire G, Sanchis-Juan A, Russell K, et al. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.03.008

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Harms FL, Dingemans AJM, Hempel M, et al. de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100927. doi:10.1016/j.gim.2023.100927

DNA Sequence Variation in Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes.

Emdin CA, Khera AV, Aragam K, et al. DNA Sequence Variation in Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes. Diabetes. 2019;68(1):226-234. doi:10.2337/db18-0857

Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018;39(11):1525-1530. doi:10.1002/humu.23642

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.

Guo MH, Plummer L, Chan YM, Hirschhorn JN, Lippincott MF. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet. 2018;103(4):522-534. doi:10.1016/j.ajhg.2018.08.016

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

Hart R, Biesecker BB, Blout CL, et al. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019;21(5):1100-1110. doi:10.1038/s41436-018-0308-x

Rare gene deletions in genetic generalized and Rolandic epilepsies.

Jabbari K, Bobbili DR, Lal D, et al. Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One. 2018;13(8):e0202022. doi:10.1371/journal.pone.0202022

Rare coding variants in ten genes confer substantial risk for schizophrenia.

Singh T, Poterba T, Curtis D, et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. 2022;604(7906):509-516. doi:10.1038/s41586-022-04556-w

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