Chantal Missirian

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix et al. · European Journal of Human Genetics · 2010 · 140 citations · Full text

Severe Neurological Phenotype, Genetic Disorder, Genetics +6

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Carlos Cardoso, Amber Boys, Elena Parrini et al. · Neurology · 2008 · 129 citations

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 97 citations · Full text

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla El Khattabi, Solveig Heide, Jean‐Hubert Caberg et al. · Journal of Medical Genetics · 2018 · 93 citations