Mathilde Gay‐Bellile

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 · 56 citations · Full text

Gene Deletion Data, Genetic Disorder, Genetics +7

<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 et al. · Oncotarget · 2017 · 44 citations · Full text

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 · 29 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +13

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Sandrine M. Caputo, Lisa Golmard, Mélanie Léoné et al. · The American Journal of Human Genetics · 2021 · 29 citations · Full text

Genetic Analysis, Cosegregation Study, Allelic Variant +14

ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis

Mathilde Gay‐Bellile, P. Romero, Anne Cayre et al. · The Journal of Pathology Clinical Research · 2016 · 24 citations · Full text