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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2026
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal ModelingNathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
American Journal of Human Genetics|June 8, 2026
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorderSock Hoai Chan, Audra N Iness, Jill A Rosenfeld, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Genome Medicine|May 29, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
JAMA Pediatrics|October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementLinyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.
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