Deborah Barbouth

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

Yao‐Shan Fan, Parul Jayakar, Hongbo Zhu et al. · Human Mutation · 2007 · 124 citations

Life Sciences, Genetics, Molecular Genetics +17

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld et al. · American Journal of Medical Genetics Part A · 2012 · 121 citations

Life Sciences, Genetics, Molecular Genetics +17

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson et al. · Journal of Neurodevelopmental Disorders · 2014 · 114 citations · Full text

Life Sciences, Genetics, Human Genetics +6

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +16

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

Chiara Pastori, Veronica J. Peschansky, Deborah Barbouth et al. · Human Genetics · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15