Mathilde Gay‐Bellile

Author

Université Clermont Auvergne ORCID

Also Known As

Céline Gaucher, M. Gay-Bellile, Mathilde GAY-BELLILE, Mathilde Gay-Bellile, Mathilde Gay-bellile, Mathilde Gay‐Bellile

Publications

386

Citations

H-Index

Concepts

All Affiliations

Université Clermont Auvergne Centre Jean Perrin Inserm Génétique Médicale & Génomique Fonctionelle Centre Hospitalier Universitaire de Clermont-Ferrand

About

Mathilde Gay‐Bellile is an author at Université Clermont Auvergne specializing in genetics, medicine, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	126
2	Pathology	3	3	97
3	Public Health	2	2	41
4	Molecular Genetics	2	2	58
5	Biostatistics	1	1	29

Mathilde Gay‐Bellile

Publications

282

Citations

H-Index

Page 1

	Year	Citations
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, European Journal of Human Genetics Gene Deletion DataGenetic DisorderGeneticsPathogenesisPathology	2013	56
<i>TERT</i> promoter status and gene copy number gains: effect on <i>TERT</i> expression and association with prognosis in breast cancer Mathilde Gay‐Bellile, Lauren Véronèse, Patricia Combes, Oncotarget	2017	44
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome Carole Goumy, Fanny Laffargue, Éléonore Eymard-Pierre, American Journal of Medical Genetics Part A Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderMedicine	2014	29
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach Sandrine M. Caputo, Lisa Golmard, Mélanie Léoné, The American Journal of Human Genetics Genetic AnalysisCosegregation StudyAllelic VariantUncertain SignificanceGenetics	2021	29
ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis Mathilde Gay‐Bellile, P. Romero, Anne Cayre, The Journal of Pathology Clinical Research	2016	24
Telomere status in chronic lymphocytic leukemia with <i>TP53</i> disruption Romain Guièze, Mélanie Pagès, Lauren Véronèse, Oncotarget	2016	20
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing Mathias Cavaillé, Flora Ponelle‐Chachuat, Nancy Uhrhammer, Frontiers in Genetics	2018	20
De novo 2q36.1q36.3 interstitial deletion involving the <i>PAX3</i> and <i>EPHA4</i> genes in a fetus with spina bifida and cleft palate Carole Goumy, Mathilde Gay‐Bellile, Éléonore Eymard-Pierre, Birth Defects Research Part A Clinical and Molecular Teratology	2014	17
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition Mathias Cavaillé, Nancy Uhrhammer, Maud Privat, Genes Chromosomes and Cancer Cancer PathologyGeneticsGenetic EpidemiologyPathologyClinical Genetics	2020	12
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease Julien Masliah‐Planchon, Céline Dupont, George Vartzelis, BMC Medical Genetics	2015	11

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