Rémi Favier

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 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

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 · 419 citations

Compound Inheritance, Mendelian Disorder, Genetic Disorder +8

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 · 364 citations · Full text

Murine Vascular, Thrombosis, Thrombopoiesis +9

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

Genetic Epidemiology, Diagnosis, Platelet Dysfunction +18

Transcriptional diversity during lineage commitment of human blood progenitors

Lu Chen, Myrto Kostadima, Joost H.A. Martens et al. · Science · 2014 · 296 citations · Full text