Guillaume Sarrabay

Publications

Article dans une revue (32)

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing Valéna Karaghiannis,Loïc Schmitt,Franck Chesnel,Emilie-Fleur Gautier,Marjorie Leducet al. American Journal of Human Genetics, 2025, 112 (11), pp.2591-2604. ⟨10.1016/j.ajhg.2025.09.002⟩ Article dans une revue hal-05284377v1
Evaluation of post-infectious inflammatory reactions in a retrospective study of 3 common invasive bacterial infections in pediatrics Pauline Abraham,Gregory Marin,Anne Filleron,Anne-Laure Michon,Hélène Marchandinet al. Medicine, 2022, 101 (38), pp.e30506. ⟨10.1097/MD.0000000000030506⟩ Article dans une revue hal-03894491v1
Case Report: Persistency Pneumococcal Polysaccharide in Cerebrospinal Fluid During a Post Pneumococcal Chronic Aseptic Meningitis: Coincidental or (Auto-)Inflammatory Embers Manon Ladeveze,Yann Dumont,G. Boursier,Frederic Batteux,Perrine Maheet al. Frontiers in Pediatrics, 2022, 10, pp.762457. ⟨10.3389/fped.2022.762457⟩ Article dans une revue hal-03980113v1
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases Guilaine Boursier,Maryam Piram,Cécile Rittore,Guillaume Sarrabay,Isabelle Touitou Journal of Investigative Dermatology, 2021, 141 (5), pp.1141-1147. ⟨10.1016/j.jid.2020.08.028⟩ Article dans une revue hal-03228762v1
Systemic autoinflammatory diseases: Clinical state of the art Sophie Georgin-Lavialle,Stéphanie Ducharme-Benard,Guillaume Sarrabay,Léa Savey,Gilles Grateauet al. Best Practice and Research: Clinical Rheumatology, 2020, 34 (4), pp.101529. ⟨10.1016/j.berh.2020.101529⟩ Article dans une revue hal-03162674v1
Correspondance on ‘Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases’ Gonçalo Boleto,Carolla El Chamieh,Lucie Biard,Isabelle Koné-Paut,Veronique Hentgenet al. Annals of the Rheumatic Diseases, 2020, ⟨10.1136/annrheumdis-2020-219566⟩ Article dans une revue hal-03220547v1
First report of MEFV gene duplication in a patient with familial Mediterranean fever. Déborah Mechin,Anna Durinikova,Guilaine Boursier,Marc Andre,Isabelle Touitouet al. Clinical and experimental rheumatology, 2020, 38 (5, suppl.127), pp.129-130 Article dans une revue hal-03176539v1
Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation Romain Gabeff,Roba Safar,Sophie Leducq,Annabel Maruani,Guillaume Sarrabayet al. International Journal of Dermatology, 2019, 58 (1), pp.e16-e17. ⟨10.1111/ijd.14293⟩ Article dans une revue hal-02566764v1
The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity Guilaine Boursier,Véronique Hentgen,Guillaume Sarrabay,Isabelle Kone-Paut,Isabelle Touitou The Journal of Pediatrics, 2019, 209, pp.12-16.e1. ⟨10.1016/j.jpeds.2019.02.039⟩ Article dans une revue hal-02869552v1
Clinical Medicine Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases Guilaine Boursier,Cécile Rittore,Sophie Georgin-Lavialle,Alexandre Belot,Caroline Galeottiet al. Journal of Clinical Medicine, 2019, 8 (10), pp.1729. ⟨10.3390/jcm8101729⟩ Article dans une revue hal-02407539v1
‘A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease’ Florian Berteau,Bénédicte Rouvière,Alice Nau,Rozenn Le Berre,Guillaume Sarrabayet al. Annals of the Rheumatic Diseases, 2019, 78 (5), pp.e35-e35. ⟨10.1136/annrheumdis-2018-213347⟩ Article dans une revue hal-02263604v1
Autoinflammation secondaire à des défauts d’ubiquitination dans la voie NFKB : haploinsuffisance de A20 (HA20) et déficit en Otuline (Otulinopénie) Isabelle Koné-Paut,Sophie Georgin-Lavialle,Caroline Galeotti,Linda Rossi-Semerano,Véronique Hentgenet al. Revue du Rhumatisme, 2019, 86, pp.358 - 366. ⟨10.1016/j.rhum.2018.09.012⟩ Article dans une revue hal-03486217v1
New data in causes of autoinflammatory diseases Isabelle Kone-Paut,Sophie Georgin-Laviallec,Caroline Galeotti,Linda Rossi-Semerano,Véronique Hentgenet al. Joint Bone Spine, 2019, 86 (5), pp.554-561. ⟨10.1016/j.jbspin.2018.11.003⟩ Article dans une revue hal-02372848v1
Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy Sébastien Viel,Elodie Cheyssac,Rémi Pescarmona,Laurie Besson,Marianne Tillet al. Annals of the Rheumatic Diseases, 2018, 77 (11), pp.1696-1698. ⟨10.1136/annrheumdis-2018-213300⟩ Article dans une revue hal-01846889v1
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,Didier Bessis,Axelle Bonhommeet al. European Journal of Human Genetics, 2018, 26 (7), pp.960 - 971. ⟨10.1038/s41431-018-0130-6⟩ Article dans une revue hal-01846894v1
Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature Florian Berteau,Bénédicte Rouvière,Aurelien Delluc,Alice Nau,Rozenn Le Berreet al. Autoimmunity Reviews, 2018, 17 (8), pp.809 - 815. ⟨10.1016/j.autrev.2018.02.012⟩ Article dans une revue istex hal-01846956v1
Reply to Sönmez et al. Mélanie Rama,Isabelle Touitou,Guillaume Sarrabay European Journal of Human Genetics, 2018, ⟨10.1038/s41431-018-0242-z⟩ Article dans une revue hal-01873337v1
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review Marielle Labrousse,Charlotte Kevorkian-Verguet,Guilaine Boursier,Dorota Rowczenio,Francois Maurieret al. Critical Reviews in Clinical Laboratory Sciences, 2018, 55 (6), pp.432 - 442. ⟨10.1080/10408363.2018.1488805⟩ Article dans une revue hal-01870365v1
Le déficit en mévalonate kinase en 2016 C. Galeotti,S. Georgin-Lavialle,Guillaume Sarrabay,I. Touitou,I. Kone-Paut La Revue de Médecine Interne, 2018, 39 (4), pp.265 - 270. ⟨10.1016/j.revmed.2016.08.019⟩ Article dans une revue hal-01846898v1
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) Marielle van Gijn,Isabella Ceccherini,Yael Shinar,Ellen Carbo,Mariska Slofstraet al. Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2017-105216⟩ Article dans une revue hal-01846891v1
Clinical overview of auto-inflammatory diseases S. Georgin-Lavialle,F. Rodrigues,V. Hentgen,A. Fayand,P. Quartieret al. La Revue de Médecine Interne, 2018, 39 (4), pp.214-232. ⟨10.1016/j.revmed.2018.01.004⟩ Article dans une revue istex hal-01908992v1
Dominant familial Mediterranean fever Guillaume Sarrabay,Isabelle Touitou Rheumatology, 2017, 56 (2), pp.173 - 175. ⟨10.1093/rheumatology/kew203⟩ Article dans une revue hal-01846974v1
Criteria for CAPS, is it all in the name? Isabelle Touitou,Guillaume Sarrabay Annals of the Rheumatic Diseases, 2017, 76 (5), pp.e9 - e9. ⟨10.1136/annrheumdis-2016-210681⟩ Article dans une revue hal-01801375v1
Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype Sylvie Grandemange,Sébastien Cabasson,Guillaume Sarrabay,Jérôme Pène,Cécile Rittoreet al. Molecular Genetics and Genomic Medicine, 2017, 5 (2), pp.110 - 116. ⟨10.1002/mgg3.229⟩ Article dans une revue hal-01767733v1
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,Frederic Tran Mau-Them,Didier Bessiset al. Annals of the Rheumatic Diseases, 2017, 76 (7), pp.1191 - 1198. ⟨10.1136/annrheumdis-2016-210021⟩ Article dans une revue hal-01796999v1
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions Ramesh Reddy,Ngoc Minh Phuong Tan Nguyen,Guillaume Sarrabay,Maryam Rezaei,Mayra C.G. Rivaset al. European Journal of Human Genetics, 2016, 24 (10), pp.1445 - 1452. ⟨10.1038/ejhg.2016.9⟩ Article dans une revue hal-01847000v1
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 Nina Bögershausen,Vincent Gatinois,Vera Riehmer,Hulya Kayserili,Jutta Beckeret al. Human Mutation, 2016, 37 (9), pp.847 - 864. ⟨10.1002/humu.23026⟩ Article dans une revue hal-01847014v1
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters F Uettwiller,Guillaume Sarrabay,Mathieu P Rodero,G Rice,E Lagrueet al. RMD Open : Rheumatic & Musculoskeletal Diseases, 2016, 2 (1), pp.e000236. ⟨10.1136/RMDOPEN-2015-000236⟩ Article dans une revue hal-02998264v1
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies Mouna Barat-Houari,Guillaume Sarrabay,Vincent Gatinois,Aurélie C.S. Fabre,Bruno Dumontet al. Human Mutation, 2016, 37 (1), pp.7 - 15. ⟨10.1002/humu.22915⟩ Article dans une revue istex hal-01847020v1
The autoinflammatory diseases: a fashion with blurred boundaries! Guillaume Sarrabay,Mouna Barat-Houari,S. Annakib,Isabelle Touitou Seminars in Immunopathology, 2015, 37 (4), pp.359 - 362. ⟨10.1007/s00281-015-0495-3⟩ Article dans une revue hal-01847037v1
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts Guillaume Sarrabay,Sylvie Grandemange,Isabelle Touitou Expert Review of Clinical Immunology, 2015, 11 (7), pp.827 - 835. ⟨10.1586/1744666X.2015.1047765⟩ Article dans une revue hal-01847034v1
Management of hereditary recurrent fevers—SHARE experience Guillaume Sarrabay,Isabelle Touitou Nature Reviews Rheumatology, 2015, 11 (10), pp.567 - 569. ⟨10.1038/nrrheum.2015.114⟩ Article dans une revue hal-01847032v1

Pré-publication, Document de travail (1)

PSMB10, the last immunoproteasome gene missing for PRAAS Guillaume Sarrabay,Déborah Méchin,Aicha Salhi,Guilaine Boursier,Cécile Rittoreet al. 2019 Pré-publication, Document de travail pasteur-02396614v1

Thèse (1)

Identification et caractérisation de gènes impliqués dans les maladies auto-inflammatoires Guillaume Sarrabay Médecine humaine et pathologie. Université Montpellier, 2019. Français. ⟨NNT : 2019MONTT081⟩ Thèse tel-02866730v1