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Molecular Genetics and Metabolism|January 12, 2015
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1Thomas Markello, Dong Chen, Justin Y Kwan, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Novel pathogenic <i>COX20</i> variants causing dysarthria, ataxia, and sensory neuropathyMaria G Otero, Emmanuelle Tiongson, Frank Diaz, et al.
Human Molecular Genetics|January 5, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregressionCamilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|July 18, 2025
Clinicopathological characterization of vacuolar tauopathy associated with VCP D395GRyohei Watanabe, John D Papatriantafyllou, Kengo Maeda, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Annals of Neurology|August 29, 2019
Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal FeaturesTory P Johnson, H Benjamin Larman, Myoung-Hwa Lee, et al.
American Journal of Human Genetics|December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Research Square|October 27, 2023
An <i>ANXA11</i> P93S variant dysregulates TDP-43 and causes corticobasal syndromeAllison Snyder, Veronica H Ryan, James Hawrot, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 26, 2024
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndromeAllison Snyder, Veronica H Ryan, James Hawrot, et al.
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