Jamal Ghoumid

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 97 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 74 citations · Full text

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

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome

Jamal Ghoumid, Loïc Drévillon, Seyedeh Maryam Alavi-Naini et al. · Human Molecular Genetics · 2013 · 64 citations

Genetics, Molecular Biology, Molecular Genetics +16

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