Joelle Abou Ghoch

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5

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

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Nadine Jalkh, Sandra Corbani, Nadine Hamdan et al. · BMC Medical Genomics · 2019 · 56 citations · Full text

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli et al. · Molecular Cytogenetics · 2015 · 49 citations · Full text

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

Nancy Choucair, Joelle Abou Ghoch, Ali Fawaz et al. · American Journal of Medical Genetics Part A · 2015 · 22 citations