Concepedia
Statistics
Publications
19
Citations
422
H-Index
14
Active since
2004
Affiliations
Université Clermont Auvergne(Current)
Centre Hospitalier Universitaire de Clermont-Ferrand
Génétique Médicale & Génomique Fonctionelle
Centre National de la Recherche Scientifique
Inserm
Carole Goumy is an author at Université Clermont Auvergne specializing in genetics, life sciences, and human genetics.
Publications per year
2004–2023
Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype
Carole Goumy, A. M. Beaufrère, Christine Francannet et al. · Prenatal Diagnosis · 2005 · 83 citations
Life Sciences, Genetics, Molecular Genetics +17
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
Céline Pebrel‐Richard, Anne Debost‐Legrand, Éléonore Eymard-Pierre et al. · European Journal of Human Genetics · 2013 · 58 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome
Carole Goumy, Fanny Laffargue, Éléonore Eymard-Pierre et al. · American Journal of Medical Genetics Part A · 2014 · 30 citations
Medicine, Genetics, Molecular Genetics +17
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells
Stéphan Kemeny, Christophe Tatout, Gaëlle Salaün et al. · Chromosoma · 2017 · 29 citations
An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment
Céline Pebrel‐Richard, Stéphan Kemeny, Laëtitia Gouas et al. · European Journal of Medical Genetics · 2012 · 21 citations
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