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Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.Human Molecular Genetics|June 7, 2020
A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intoleranceBridget M Stroup, Ronit Marom, Xiaohui Li, et al.Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.The Journal of Clinical Investigation|June 17, 2024
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defectRonit Marom, I-Wen Song, Emily C Busse, et al.Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.Nature Genetics|August 7, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning frameworkAlexander J M Dingemans, Max Hinne, Kim M G Truijen, et al.Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.Pageof 4