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American Journal of Medical Genetics. Part A|September 15, 2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup diseaseNishitha R Pillai, Delia Yubero, Brian J Shayota, et al.
Molecular Genetics and Metabolism|November 24, 2019
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature reviewNishitha R Pillai, Bridget M Stroup, Anna Poliner, et al.
Molecular Genetics and Metabolism|August 24, 2020
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathwayBrian J Shayota, Taraka R Donti, Jing Xiao, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Characterization of the renal phenotype in RMND1-related mitochondrial diseaseBrian J Shayota, Nhon T Le, Nasim Bekheirnia, et al.
Journal of Neurology|July 17, 2026
Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidosesKyriakos Martakis, Nicolas J Abreu, Joshua J Baker, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
Human Molecular Genetics|August 18, 2022
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disordersStacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal ModelingNathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese, et al.
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