Matt De Both

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Chris Balak, Marianne Bénard, Élise Schaefer et al. · The American Journal of Human Genetics · 2019 · 84 citations · Full text

Rna Dysregulation, Allelic Variant, Genetic Disorder +8

Hippocampal Transcriptomic Profiles: Subfield Vulnerability to Age and Cognitive Impairment

Lara Ianov, Matt De Both, Monica K. Chawla et al. · Frontiers in Aging Neuroscience · 2017 · 56 citations · Full text

Association of SNPs in EGR3 and ARC with Schizophrenia Supports a Biological Pathway for Schizophrenia Risk

Matthew J. Huentelman, Leela Muppana, Jason J. Corneveaux et al. · PLoS ONE · 2015 · 53 citations · Full text

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Isabelle Schrauwen, Szabolcs Szelinger, Ashley L. Siniard et al. · PLoS ONE · 2015 · 51 citations · Full text

Cav1 Is Associated, Frame-shift Mutation, Severe Neonatal Progeroid +14

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck et al. · Nature Communications · 2019 · 50 citations · Full text