Mathias Schwartz

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

Adaptive nanopore sequencing to determine pathogenicity of<i>BRCA1</i>exonic duplication

Mathilde Filser, Mathias Schwartz, Kevin Merchadou et al. · Journal of Medical Genetics · 2023 · 21 citations · Full text

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers

Alexandre Rouen, Léa Carlier, Solveig Heide et al. · Reproductive BioMedicine Online · 2017 · 20 citations · Full text

Spermatogenesis, Infertility, Developmental Biology +13

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

Stéphanie Baert‐Desurmont, Sophie Coutant, Françoise Charbonnier et al. · European Journal of Human Genetics · 2018 · 19 citations · Full text

Inherited Colorectal Cancer, Intronic Sequences, Medicine +10

First estimates of diffuse gastric cancer risks for carriers of <i>CTNNA1</i> germline pathogenic variants

Marie Coudert, Youenn Drouet, Hélène Delhomelle et al. · Journal of Medical Genetics · 2022 · 19 citations