Christina Nassif

De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi et al. · PLoS Genetics · 2014 · 411 citations · Full text

Genetic Diseases, Mendelian Disorder, Genetic Disorder +13

Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian et al. · BMC Medical Genetics · 2014 · 93 citations · Full text

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 87 citations · Full text

Neurodevelopmental Disorders, Human Neurons, Synaptic Plasticity +11

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Sarah Boissel, Catherine Fallet‐Bianco, David Chitayat et al. · Genetics in Medicine · 2017 · 82 citations · Full text

Developmental Anomaly, Severe Fetal Anomalies, Developmental Biology +11

Loss of the proprioception and touch sensation channel <scp>PIEZO2</scp> in siblings with a progressive form of contractures

Abdullah Al Mahmud, Noor Ahmed Nahid, Christina Nassif et al. · Clinical Genetics · 2016 · 76 citations