Rémi Favier

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze et al. · Nature Genetics · 2012 · 426 citations

Life Sciences, Genetics, Molecular Genetics +6

Fli-1 Is Required for Murine Vascular and Megakaryocytic Development and Is Hemizygously Deleted in Patients with Thrombocytopenia

Adam H. Hart, Fabrice Mélet, Paul Grossfeld et al. · Immunity · 2000 · 366 citations · Full text

Medicine, Hematology, Pathology +11

The 11q terminal deletion disorder: A prospective study of 110 cases

Paul Grossfeld, Teresa Mattina, Zona Lai et al. · American Journal of Medical Genetics Part A · 2004 · 343 citations

Life Sciences, Genetics, Molecular Genetics +16