Irina Giurgea

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina et al. · The American Journal of Human Genetics · 2007 · 256 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

Julie Mollet, Irina Giurgea, Dimitri Schlemmer et al. · Journal of Clinical Investigation · 2007 · 252 citations · Full text

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

Fawaz Awad, Eman Assrawi, Claire Jumeau et al. · PLoS ONE · 2017 · 178 citations · Full text

M2 Phenotype, Inflammatory Lung Disease, Immunology +25

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Paule Bénit, Réjane Beugnot, Dominique Chrétien et al. · Human Mutation · 2003 · 161 citations

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 128 citations

Missense Mutations, Clinical Diagnosis Score, Genetics +19