Anne‐Sophie Jourdain

<i>EFTUD2</i> haploinsufficiency leads to syndromic oesophageal atresia

Christopher T. Gordon, Florence Petit, Myriam Oufadem et al. · Journal of Medical Genetics · 2012 · 96 citations

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain et al. · Genetics in Medicine · 2017 · 68 citations · Full text

Blepharocheilodontic Syndrome, Pathology, Molecular Medicine +2

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid et al. · European Journal of Human Genetics · 2018 · 60 citations · Full text

Translational Medicine, Pathology, Tbx5 Variants +5

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse et al. · European Journal of Human Genetics · 2015 · 59 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +13

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Endika Haro, Florence Petit, Charmaine U. Pira et al. · Nature Communications · 2021 · 31 citations · Full text