Patrick Calvas

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot et al. · The American Journal of Human Genetics · 2004 · 760 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 447 citations

Life Sciences, Genetics, Molecular Genetics +10

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Sylvain Hanein, Isabelle Perrault, S. Gerber et al. · Human Mutation · 2004 · 349 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

Stanislas Faguer, Stéphane Decramer, Nicolas Chassaing et al. · Kidney International · 2011 · 217 citations · Full text

Medicine, Molecular Medicine, Nephrology +12

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

Marie‐Bernadette Delisle, Jill R. Murrell, Rosemarie Richardson et al. · Acta Neuropathologica · 1999 · 173 citations

Life Sciences, Genetics, Neurology +11