André Mégarbané

Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

Jocelyne Magré, Marc Délepine, Eliane Khallouf et al. · Nature Genetics · 2001 · 744 citations

Genetic Disorder, Genetics, Pathology +7

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 392 citations

Biology, Pcnt Results, Developmental Biology +10

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß et al. · The American Journal of Human Genetics · 2007 · 367 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza et al. · Genetics in Medicine · 2011 · 333 citations · Full text

Intimate Relationship, Gender Studies, Sociology +8

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh et al. · Journal of Clinical Investigation · 2015 · 330 citations · Full text

Genetics, Immunodeficiencies, Immunology +26