Lam Son Nguyen

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen et al. · Nature Genetics · 2007 · 284 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +7

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

G. McMichael, Matthew N. Bainbridge, Eric Haan et al. · Molecular Psychiatry · 2015 · 227 citations

Mendelian Disorder, Genetic Disorder, Genetics +9

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Lam Son Nguyen, Hyung‐Goo Kim, Jill A. Rosenfeld et al. · Human Molecular Genetics · 2013 · 161 citations

Transcriptional Regulation, Developmental Biology, Molecular Neuroscience +14

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Lam Son Nguyen, Marylin Lepleux, M. Makhlouf et al. · Molecular Autism · 2016 · 155 citations · Full text

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

Claire C. Homan, Raman Kumar, Lam Son Nguyen et al. · The American Journal of Human Genetics · 2014 · 144 citations · Full text

Neurodegenerative Diseases, Developmental Biology, Molecular Neuroscience +10