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Guillaume Sarrabay

31
Documents

Publications

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases

Guilaine Boursier , Maryam Piram , Cécile Rittore , Guillaume Sarrabay , Isabelle Touitou et al.
Journal of Investigative Dermatology, 2021, 141 (5), pp.1141-1147. ⟨10.1016/j.jid.2020.08.028⟩
Journal articles hal-03228762v1
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Systemic autoinflammatory diseases: Clinical state of the art

Sophie Georgin-Lavialle , Stéphanie Ducharme-Benard , Guillaume Sarrabay , Léa Savey , Gilles Grateau et al.
Best Practice and Research: Clinical Rheumatology, 2020, 34 (4), pp.101529. ⟨10.1016/j.berh.2020.101529⟩
Journal articles hal-03162674v1
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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 Hentgen et al.
Annals of the Rheumatic Diseases, 2020, ⟨10.1136/annrheumdis-2020-219566⟩
Journal articles hal-03220547v1

First report of MEFV gene duplication in a patient with familial Mediterranean fever.

Déborah Mechin , Anna Durinikova , Guilaine Boursier , Marc Andre , Isabelle Touitou et al.
Clinical and experimental rheumatology, 2020, 38 (5, suppl.127), pp.129-130
Journal articles hal-03176539v1
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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 et al.
The Journal of Pediatrics, 2019, 209, pp.12-16.e1. ⟨10.1016/j.jpeds.2019.02.039⟩
Journal articles hal-02869552v1
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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 Galeotti et al.
Journal of Clinical Medicine, 2019, 8 (10), pp.1729. ⟨10.3390/jcm8101729⟩
Journal articles hal-02407539v1
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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 Hentgen et al.
Revue du Rhumatisme, 2019, 86, pp.358 - 366. ⟨10.1016/j.rhum.2018.09.012⟩
Journal articles hal-03486217v1

‘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 Sarrabay et al.
Annals of the Rheumatic Diseases, 2019, 78 (5), pp.e35-e35. ⟨10.1136/annrheumdis-2018-213347⟩
Journal articles hal-02263604v1

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 Sarrabay et al.
International Journal of Dermatology, 2019, 58 (1), pp.e16-e17. ⟨10.1111/ijd.14293⟩
Journal articles hal-02566764v1

New data in causes of autoinflammatory diseases

Isabelle Kone-Paut , Sophie Georgin-Laviallec , Caroline Galeotti , Linda Rossi-Semerano , Véronique Hentgen et al.
Joint Bone Spine, 2019, 86 (5), pp.554-561. ⟨10.1016/j.jbspin.2018.11.003⟩
Journal articles hal-02372848v1

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 Slofstra et al.
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2017-105216⟩
Journal articles hal-01846891v1

Le déficit en mévalonate kinase en 2016

C. Galeotti , S. Georgin-Lavialle , Guillaume Sarrabay , I. Touitou , I. Kone-Paut et al.
La Revue de Médecine Interne, 2018, 39 (4), pp.265 - 270. ⟨10.1016/j.revmed.2016.08.019⟩
Journal articles hal-01846898v1

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy

Sébastien Viel , Elodie Cheyssac , Rémi Pescarmona , Laurie Besson , Marianne Till et al.
Annals of the Rheumatic Diseases, 2018, ⟨10.1136/annrheumdis-2018-213300⟩
Journal articles 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 Bonhomme et al.
European Journal of Human Genetics, 2018, 26 (7), pp.960 - 971. ⟨10.1038/s41431-018-0130-6⟩
Journal articles hal-01846894v1

Clinical overview of auto-inflammatory diseases

S. Georgin-Lavialle , F. Rodrigues , V. Hentgen , A. Fayand , P. Quartier et al.
La Revue de Médecine Interne, 2018, 39 (4), pp.214-232. ⟨10.1016/j.revmed.2018.01.004⟩
Journal articles hal-01908992v1

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

Florian Berteau , Bénédicte Rouvière , Aurelien Delluc , Alice Nau , Rozenn Le Berre et al.
Autoimmunity Reviews, 2018, 17 (8), pp.809 - 815. ⟨10.1016/j.autrev.2018.02.012⟩
Journal articles 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⟩
Journal articles 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 Maurier et al.
Critical Reviews in Clinical Laboratory Sciences, 2018, 55 (6), pp.432 - 442. ⟨10.1080/10408363.2018.1488805⟩
Journal articles hal-01870365v1
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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 Rittore et al.
Molecular Genetics and Genomic Medicine, 2017, 5 (2), pp.110 - 116. ⟨10.1002/mgg3.229⟩
Journal articles hal-01767733v1

Dominant familial Mediterranean fever

Guillaume Sarrabay , Isabelle Touitou
Rheumatology, 2017, 56 (2), pp.173 - 175. ⟨10.1093/rheumatology/kew203⟩
Journal articles hal-01846974v1

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 Bessis et al.
Annals of the Rheumatic Diseases, 2017, 76 (7), pp.1191 - 1198. ⟨10.1136/annrheumdis-2016-210021⟩
Journal articles hal-01796999v1

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⟩
Journal articles hal-01801375v1

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. Rivas et al.
European Journal of Human Genetics, 2016, 24 (10), pp.1445 - 1452. ⟨10.1038/ejhg.2016.9⟩
Journal articles hal-01847000v1

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies

Mouna Barat-Houari , Guillaume Sarrabay , Vincent Gatinois , Aurélie C.S. Fabre , Bruno Dumont et al.
Human Mutation, 2016, 37 (1), pp.7 - 15. ⟨10.1002/humu.22915⟩
Journal articles hal-01847020v1
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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

F Uettwiller , Guillaume Sarrabay , Mathieu P Rodero , G Rice , E Lagrue et al.
RMD Open : Rheumatic & Musculoskeletal Diseases, 2016, 2 (1), pp.e000236. ⟨10.1136/RMDOPEN-2015-000236⟩
Journal articles hal-02998264v1

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 Becker et al.
Human Mutation, 2016, 37 (9), pp.847 - 864. ⟨10.1002/humu.23026⟩
Journal articles hal-01847014v1

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⟩
Journal articles hal-01847037v1

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⟩
Journal articles hal-01847032v1

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⟩
Journal articles hal-01847034v1