Laura S. Farach

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 159 citations · Full text

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 139 citations · Full text

Bi-allelic Tango2 Mutations, Cardiac Muscle, Cardiomyopathy +9

The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome

Laura S. Farach, Mary Ellen Little, Angela L. Duker et al. · American Journal of Medical Genetics Part A · 2017 · 58 citations · Full text

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda Mirzaa, Jessica X. Chong, Amélie Piton et al. · Genetics in Medicine · 2019 · 44 citations · Full text

Neurodevelopmental Disorders, Inherited Variants, Syndromic Autism +10

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

Laura S. Farach, Deborah A. Pearson, John P. Woodhouse et al. · Pediatric Neurology · 2019 · 40 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6