Sonia Nizard

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

Guillaume Huguet, Catherine Schramm, Élise Douard et al. · JAMA Psychiatry · 2018 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

Nicolas Chassaing, Ludovic Martin, Laurence Barrié et al. · Journal of Investigative Dermatology · 2004 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

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 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

Guylaine D’Amours, Zoha Kibar, Géraldine Mathonnet et al. · Clinical Genetics · 2011 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Renal lesions and pheochromocytoma in von Hippel-Lindau disease.

Dominique Chauveau, Yves Chrétien, Alban Denys et al. · PubMed · 1994 · 63 citations

Medicine, Endocrinology, Pathology +14