Perrine Malzac

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon et al. · Human Mutation · 2000 · 250 citations

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

Philippe Jay, Claire Rougeulle, Annick Massacrier et al. · Nature Genetics · 1997 · 245 citations

Developmental Biology, Genetic Disorder, Medicine +8

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Perrine Malzac, Hayley Webber, A. Moncla et al. · The American Journal of Human Genetics · 1998 · 218 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac et al. · Journal of Medical Genetics · 2012 · 123 citations

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

Anne Moncla, Perrine Malzac, Marie‐Antoinette Voelckel et al. · European Journal of Human Genetics · 1999 · 106 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6