Guillaume Sarrabay

Marielle Van Gijn, Isabella Ceccherini, Yael Shinar, Ellen Carbo, Mariska Slofstra, et al.. New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). Journal of Medical Genetics, BMJ Publishing Group, 2018, 〈10.1136/jmedgenet-2017-105216〉. 〈hal-01846891〉

Mélanie Rama, Isabelle Touitou, Guillaume Sarrabay. Reply to Sönmez et al.. European Journal of Human Genetics, Nature Publishing Group, 2018, 〈10.1038/s41431-018-0242-z〉. 〈hal-01873337〉

Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, et al.. A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (7), pp.960 - 971. 〈10.1038/s41431-018-0130-6〉. 〈hal-01846894〉

Florian Berteau, Bénédicte Rouvière, Aurelien Delluc, Alice Nau, Rozenn Le Berre, et al.. Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature. Autoimmunity Reviews, Elsevier, 2018, 17 (8), pp.809 - 815. 〈10.1016/j.autrev.2018.02.012〉. 〈hal-01846956〉

Sébastien Viel, Elodie Cheyssac, Rémi Pescarmona, Laurie Besson, Marianne Till, et al.. Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy. Annals of the Rheumatic Diseases, BMJ Publishing Group, 2018, 〈10.1136/annrheumdis-2018-213300〉. 〈hal-01846889〉

Florian Berteau, Bénédicte Rouvière, Alice Nau, Rozenn Le Berre, Guillaume Sarrabay, et al.. Response to: ‘A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease’. Annals of the Rheumatic Diseases, BMJ Publishing Group, 2018, 〈10.1136/annrheumdis-2018-213347〉. 〈hal-01846903〉

Marielle Labrousse, Charlotte Kevorkian-Verguet, Guilaine Boursier, Dorota Rowczenio, Francois Maurier, et al.. Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review. Critical Reviews in Clinical Laboratory Sciences, Taylor & Francis, 2018, 55 (6), pp.432 - 442. 〈10.1080/10408363.2018.1488805〉. 〈hal-01870365〉

Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, et al.. Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype. Molecular Genetics and Genomic Medicine, Wiley, 2017, 5 (2), pp.110 - 116. 〈10.1002/mgg3.229〉. 〈hal-01767733〉

Guillaume Sarrabay, Isabelle Touitou. Dominant familial Mediterranean fever. Rheumatology, Oxford University Press (OUP), 2017, 56 (2), pp.173 - 175. 〈10.1093/rheumatology/kew203〉. 〈hal-01846974〉

Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, Frederic Tran Mau-Them, Didier Bessis, et al.. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD ( NLRP1- associated autoinflammation with arthritis and dyskeratosis). Annals of the Rheumatic Diseases, BMJ Publishing Group, 2017, 76 (7), pp.1191 - 1198. 〈10.1136/annrheumdis-2016-210021〉. 〈hal-01796999〉

Isabelle Touitou, Guillaume Sarrabay. Criteria for CAPS, is it all in the name?. Annals of the Rheumatic Diseases, BMJ Publishing Group, 2017, 76 (5), pp.e9 - e9. 〈10.1136/annrheumdis-2016-210681〉. 〈hal-01801375〉

Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hulya Kayserili, Jutta Becker, et al.. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Human Mutation, Wiley, 2016, 37 (9), pp.847 - 864. 〈10.1002/humu.23026〉. 〈hal-01847014〉

Mouna Barat-Houari, Guillaume Sarrabay, Vincent Gatinois, Aurélie Fabre, Bruno Dumont, et al.. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Human Mutation, Wiley, 2016, 37 (1), pp.7 - 15. 〈10.1002/humu.22915〉. 〈hal-01847020〉

Ramesh Reddy, Ngoc Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra Rivas, et al.. Erratum: The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (10), pp.1516 - 1516. 〈10.1038/ejhg.2016.96〉. 〈hal-01824551〉

Ramesh Reddy, Ngoc Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra Rivas, et al.. The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (10), pp.1445 - 1452. 〈10.1038/ejhg.2016.9〉. 〈hal-01847000〉

Guillaume Sarrabay, Sylvie Grandemange, Isabelle Touitou. Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts. Expert Review of Clinical Immunology, Expert Reviews (formerly Future Drugs), 2015, 11 (7), pp.827 - 835. 〈10.1586/1744666X.2015.1047765〉. 〈hal-01847034〉

Guillaume Sarrabay, Isabelle Touitou. Management of hereditary recurrent fevers—SHARE experience. Nature Reviews Rheumatology, Nature Publishing Group, 2015, 11 (10), pp.567 - 569. 〈10.1038/nrrheum.2015.114〉. 〈hal-01847032〉