Skip to Main content

Co-authors

Number of documents

22

Guillaume Sarrabay


Journal articles21 documents

  • Isabelle Kone-Paut, Sophie Georgin-Laviallec, Caroline Galeotti, Linda Rossi-Semerano, Véronique Hentgen, et al.. New data in causes of autoinflammatory diseases. Joint Bone Spine, Elsevier Masson, 2019, 86 (5), pp.554-561. ⟨10.1016/j.jbspin.2018.11.003⟩. ⟨hal-02372848⟩
  • Guilaine Boursier, Véronique Hentgen, Guillaume Sarrabay, Isabelle Kone-Paut, Isabelle Touitou. The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity. Journal of Pediatrics, Elsevier, 2019, 209, pp.12-16.e1. ⟨10.1016/j.jpeds.2019.02.039⟩. ⟨hal-02869552⟩
  • Florian Berteau, Bénédicte Rouvière, Alice Nau, Rozenn Le Berre, Guillaume Sarrabay, et al.. ‘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, 2019, 78 (5), pp.e35-e35. ⟨10.1136/annrheumdis-2018-213347⟩. ⟨hal-02263604⟩
  • Romain Gabeff, Roba Safar, Sophie Leducq, Annabel Maruani, Guillaume Sarrabay, et al.. Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation. International Journal of Dermatology, Wiley-Blackwell, 2019, 58 (1), pp.e16-e17. ⟨10.1111/ijd.14293⟩. ⟨hal-02566764⟩
  • Guilaine Boursier, Cécile Rittore, Sophie Georgin-Lavialle, Alexandre Belot, Caroline Galeotti, et al.. Clinical Medicine Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases. Journal of Clinical Medicine, MDPI, 2019, 8 (10), pp.1729. ⟨10.3390/jcm8101729⟩. ⟨hal-02407539⟩
  • Florian Berteau, Bénédicte Rouvière, Aurélien 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. ⟨hal-02052302⟩
  • 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⟩
  • 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⟩
  • 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⟩
  • 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⟩
  • 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⟩
  • 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⟩
  • 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, 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⟩
  • 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.. 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, 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⟩
  • 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⟩

Preprints, Working Papers, ...1 document

  • Guillaume Sarrabay, Deborah Mechin, Aicha Salhi, Guilaine Boursier, Cécile Rittore, et al.. PSMB10, the last immunoproteasome gene missing for PRAAS. 2019. ⟨pasteur-02396614⟩