Yves Lacassie

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

Vinciane Wouters, Nisha Limaye, Mélanie Uebelhoer et al. · European Journal of Human Genetics · 2009 · 186 citations · Full text

Tie2 Mutations, Variable Hyper-phosphorylating Effects, Mendelian Disorder +6

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

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Christian R. Marshall, Edwin J. Young, Ariel M. Pani et al. · The American Journal of Human Genetics · 2008 · 123 citations · Full text

Developmental Biology, Magi2 Gene, Medicine +6