D. Héron

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

M-L Jacquemont, Damien Sanlaville, Richard Redon et al. · Journal of Medical Genetics · 2006 · 304 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

F. Daoud, Nathalie Angeard, B. Demerre et al. · Human Molecular Genetics · 2009 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquerrière, Jérôme Maluenda, Adrien Camus et al. · Human Molecular Genetics · 2013 · 110 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Cumulative effect of anatomical risk factors for schizophrenia: an MRI study

Christiana M. Leonard, John M. Kuldau, Joshua I. Breier et al. · Biological Psychiatry · 1999 · 88 citations

Medicine, Neuroscience, Psychiatry +16

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Sahar Sabry, Sandrine Vuillaumier‐Barrot, E. Mintet et al. · Orphanet Journal of Rare Diseases · 2016 · 64 citations · Full text

Life Sciences, Biochemistry, Genetics +17