De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies
Erfan Aref‐Eshghi(London Health Sciences Centre), Bobbi McGivern(GenVec), Ingrid M. Wentzensen, Leandra Folk, Tawfeg Ben‐Omran(Qatar Airways (Qatar)), Reem Ibrahim Bux(Hamad Medical Corporation), Hoanh Nguyen(Washington University in St. Louis), Nina B. Gold(Harvard University), Erin McRoy(Washington University in St. Louis), Yanmin Chen(GenVec), Shao Ching Tu(Washington University in St. Louis), Lauren O’Grady(Massachusetts General Hospital)
Cited by 0
Related Papers
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
|Neuromuscular Disorders|2019|636
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
|Science|2014|548
Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency
|Journal of Inherited Metabolic Disease|2016|335
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|The American Journal of Human Genetics|2020|334