Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

Marie Moatti-Cohen, Céline Garrec, Martine Wolf, +9

Blood

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Marion Lenglet, Florence Robriquet, Klaus Schwarz, +47

Blood

ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw–Schulman Syndrome

Bérangère S. Joly, Pierre Boisseau, Elien Roose, +9

Thrombosis and Haemostasis

BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud, Stanley Letovsky, Corey Braastad, +32

Human Mutation

Genetic TestingCancer PathologyGeneticsPathologyMolecular Genetics +21

Increased incidence of germline <i>PIEZO1</i> mutations in individuals with idiopathic erythrocytosis

Mathilde Filser, Muriel Giansily‐Blaizot, Mélanie Grenier, +15

Blood

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

Sandrine M. Caputo, Lisa Golmard, Mélanie Léoné, +157

The American Journal of Human Genetics

Genetic AnalysisCosegregation StudyAllelic VariantUncertain SignificanceGenetics +12

Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images

Raphaël Bourgade, Noémie Rabilloud, Tanguy Perennec, +13

Modern Pathology

High-grade Ovarian CancerEngineeringDeep LearningTumor HeterogeneityMedicine +10

Characterization of genetic variants in the &lt;i&gt;EGLN1/PHD2&lt;/i&gt; gene identified in a European collection of patients with erythrocytosis

Marine Delamare, Amandine Le Roy, Mathilde Pacault, +38

Haematologica

ImmunohematologyGeneticsGenetic EpidemiologyPathologyMolecular Genetics +20

Comprehensive &lt;i&gt;in silico&lt;/i&gt; and functional studies for classification of &lt;i&gt;EPAS1/HIF2A&lt;/i&gt; genetic variants identified in patients with erythrocytosis

Valéna Karaghiannis, Darko Maric, Céline Garrec, +25

Haematologica

Performance of multiplicom's BRCA MASTR Dx kit on the detection of <i>BRCA1</i> and <i>BRCA2</i> mutations in fresh frozen ovarian and breast tumor samples

Cindy Badoer, Céline Garrec, D. Goossens, +11

Oncotarget