D. Bessis

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 282 citations

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)

Sylvie Grandemange, Elodie Sanchez, Pascale Louis‐Plence et al. · Annals of the Rheumatic Diseases · 2016 · 220 citations

The Clinical Spectrum and Therapeutic Management of Hypocomplementemic Urticarial Vasculitis: Data From a French Nationwide Study of Fifty‐Seven Patients

M. Jachiet, B. Flageul, Alban Deroux et al. · Arthritis & Rheumatology · 2014 · 172 citations

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 · 140 citations · Full text