Daniel Amram

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers

Nicolas Sévenet, Eammon Sheridan, Daniel Amram et al. · The American Journal of Human Genetics · 1999 · 450 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin et al. · The American Journal of Human Genetics · 2013 · 183 citations · Full text

Medicine, Molecular Genetics, Neuroscience +6

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

Christèle Dubourg, Wilfrid Carré, Houda Hamdi‐Rozé et al. · Human Mutation · 2016 · 74 citations

Life Sciences, Genetics, Molecular Genetics +17