Genetics in medicine : official journal of the American College of Medical Genetics

Genetics in medicine : official journal of the American College of Medical Genetics

Top Clicked Bibliographies from Search

2017 Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes Clicks: 304

2019 Who's on third? Regulation of third-party genetic interpretation services. Clicks: 283

2020 Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. Clicks: 250

2020 Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Clicks: 247

2019 Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Clicks: 211

2019 AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. Clicks: 201

2019 Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Clicks: 154

2018 Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Clicks: 60

2024 Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Clicks: 31

2023 Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Clicks: 18