Guillaume Sarrabay

Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients*

Sophie Georgin‐Lavialle, Benjamin Terrier, Alexis F. Guédon et al. · British Journal of Dermatology · 2021 · 387 citations · Full text

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

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer et al. · Human Mutation · 2016 · 183 citations · Full text

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Marielle E van Gijn, Isabella Ceccherini, Yael Shinar et al. · Journal of Medical Genetics · 2018 · 158 citations · Full text

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Mélanie Rama, Claire Duflos, Isabelle Melki et al. · European Journal of Human Genetics · 2018 · 88 citations · Full text

Genetic Diagnosis, Genetic Testing, Decision Tree +12