José‐Mario Capo‐Chichi

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

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev et al. · Neuron · 2013 · 163 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +6

Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation

Aoife J McCarthy, José‐Mario Capo‐Chichi, Tara Spence et al. · The Journal of Pathology Clinical Research · 2018 · 160 citations · Full text

Genetics, Immunology, Pathology +20

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan et al. · The American Journal of Human Genetics · 2012 · 136 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

Myriam Srour, David Chitayat, Véronique Caron et al. · The American Journal of Human Genetics · 2013 · 111 citations · Full text

Diaphragmatic Hernia, Developmental Biology, Ophthalmology +4