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

Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, +15

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyMolecular Genetics +2

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

Julie Mollet, Irina Giurgea, Dimitri Schlemmer, +7

Journal of Clinical Investigation

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

Fawaz Awad, Eman Assrawi, Claire Jumeau, +11

PLoS ONE

M2 PhenotypeInflammatory Lung DiseaseImmunologyImmune RegulationInnate Immunity +23

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

Paule Bénit, Réjane Beugnot, Dominique Chrétien, +8

Human Mutation

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

Sandra Whalen, Delphine Héron, Thierry Gaillon, +34

Human Mutation

Missense MutationsClinical Diagnosis ScoreGeneticsGenetic EpidemiologyDiagnosis +17

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

M. Mar González‐Barroso, Irina Giurgea, Frédéric Bouillaud, +6

PLoS ONE

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

Laurence Faivre, Philippe Gosset, Valérie Cormier‐Daire, +11

European Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsIgf1 Receptor GenePathology +2

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen, +34

European Journal of Human Genetics

Bcor AnalysisClinical DisordersOphthalmologyLenz Microphthalmia SyndromesNeurology +3

Congenital Hyperinsulinism: Pancreatic [¹⁸F]Fluoro-<scp>l</scp>-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion

Pascale de Lonlay, Aurore Simon-Carré, Maria-João Ribeiro, +13

The Journal of Clinical Endocrinology & Metabolism

Factitious Hyperinsulinism Leading to Pancreatectomy: Severe Forms of Munchausen Syndrome by Proxy

Irina Giurgea, Tim Ulinski, Guy Touati, +6

PEDIATRICS