Laurence Faivre

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 269 citations

Life Sciences, Genetics, Molecular Genetics +17

Disruption of a long distance regulatory region upstream of <i>SOX9</i> in isolated disorders of sex development

Sabina Benko, Christopher T. Gordon, Delphine Mallet et al. · Journal of Medical Genetics · 2011 · 189 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel <i>FH</i> mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

Betty Gardie, Audrey Remenieras, Darouna Kattygnarath et al. · Journal of Medical Genetics · 2011 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management

David A. Dyment, Jørn V. Sagen, Judith St‐Onge et al. · Clinical Genetics · 2015 · 93 citations

Life Sciences, Genetics, Molecular Genetics +15