Hélène Dreau

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Katharina Schwarze, James Buchanan, Jilles M. Fermont et al. · Genetics in Medicine · 2019 · 248 citations · Full text

Life Sciences, Bioinformatics, Oncology +17

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

Ruth Clifford, Tania Louis, Pauline Robbe et al. · Blood · 2013 · 228 citations

Life Sciences, Genetics, Molecular Genetics +11

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

Pauline Robbe, Niko Popitsch, Samantha J.L. Knight et al. · Genetics in Medicine · 2018 · 191 citations · Full text

Life Sciences, Oncology, Pathology +17

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

Marion Lenglet, Florence Robriquet, Klaus Schwarz et al. · Blood · 2018 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

Noémi Roy, Edward A. Wilson, Shirley Henderson et al. · British Journal of Haematology · 2016 · 90 citations · Full text

Medicine, Genetics, Molecular Genetics +17