Chrystel Leroy

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

Naresh K. Hanchate, Paolo Giacobini, Pierre Lhuillier et al. · PLoS Genetics · 2012 · 210 citations · Full text

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Véronique Pingault, Virginie Bodereau, Viviane Baral et al. · The American Journal of Human Genetics · 2013 · 195 citations · Full text

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Éric Pasmant, Béatrice Parfait, Armelle Luscan et al. · European Journal of Human Genetics · 2014 · 119 citations · Full text

Large Gene, Molecular Diagnosis, Mendelian Disorder +13

The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

Séverine Marcos, Julie Sarfati, Chrystel Leroy et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 86 citations · Full text

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

Chrystel Leroy, Corinne Fouveaut, Sandrine Leclercq et al. · European Journal of Human Genetics · 2008 · 47 citations · Full text

Biallelic Mutations, Mendelian Disorder, Genetic Disorder +10