Luis Rohena

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 111 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +11

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

Mutations in ARID2 are associated with intellectual disabilities

Linshan Shang, Megan T. Cho, Kyle Retterer et al. · Neurogenetics · 2015 · 80 citations

Genetic Disorder, Genetics, Intellectual Disabilities +4

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Carlos R. Ferreira, Zhi‐Jie Xia, Aurélie Clément et al. · The American Journal of Human Genetics · 2018 · 71 citations · Full text

Signal Transduction, Glycosylation, Altered Proteoglycan Glycosylation +11

Mutation in<i>SNAP25</i>as a novel genetic cause of epilepsy and intellectual disability

Luis Rohena, Julie Neidich, Megan Truitt Cho et al. · Rare Diseases · 2013 · 69 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +11