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Cell|March 1, 2024
Structurally divergent and recurrently mutated regions of primate genomesYafei Mao, William T Harvey, David Porubsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.
Nature Communications|March 10, 2026
CXCR4-tropic HIV-1 infection in an immunocompetent monkey modelNicholas R Meyerson, Vanessa L Bauer, Will T Fattor, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
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