Sandra Corbani

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of<i>LDLR</i>mutations and role of<i>PCSK9</i>as a modifier gene

Marianne Abifadel, J. S., Sélim Jambart et al. · Human Mutation · 2009 · 96 citations

Genetics, Genetic Epidemiology, Human Polymorphism +16

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

Virginie Laurier, Corinne Stoetzel, Jean Muller et al. · European Journal of Human Genetics · 2006 · 62 citations · Full text

Homozygosity Mapping, Extended Consanguineous Bardet–biedl, Mendelian Disorder +13

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations

Myrna Medlej‐Hashim, Jean‐Louis Serre, Sandra Corbani et al. · European Journal of Medical Genetics · 2005 · 61 citations

Mendelian Disorder, Genetic Disorder, Medicine +13

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Marie‐Hélène Gannagé‐Yared, Jürgen Klammt, Éliane Chouery et al. · European Journal of Endocrinology · 2012 · 57 citations