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Publications

2017

1.Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017 Nov 1;127(11):4090-4103.

2.Carapito R, Gottenberg JE, Kotova I, Untrau M, Michel S, Naegely L, Aouadi I, Kwemou M, Paul N, Pichot A, Locke J, Bowman SJ, Griffiths B, Sivils KL, Sibilia J, Inoko H, Micelli-Richard C, Nocturne G, Ota M, Ng WF, Mariette X, Bahram S.
A new MHC-linked susceptibility locus for primary Sjögren's syndrome: MICA. Hum Mol Genet. 2017 Jul 1;26(13):2565-2576.

2016

1.Carapito R, Radosavljevic M, Bahram S. Next-Generation Sequencing of the HLA locus: methods and impact on HLA-typing, population genetics and disease association studies. Human Immunology 2016 doi:10.1016/j.humimm.2016.04.002

2.Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, Dumant-Forest C, Leroux J, Ory B, Isidor B, Bahram S. Autosomal dominant Spondylocarpotarsal Synostosis Syndrome is caused by mutations in MYH3 in two independent families. European Journal of Human Genetics 2016. doi:10.1038/ejhg.2016.84

3.Carapito R, Jung N, Kwemou M, Untrau M, Michel S, Pichot A, Giacometti G, Macquin C, Ilias W, Morlon A, Kotova I, Apostolova P, Schmitt-Graeff A, Cesbron A, Gagne K, Oudshoorn M, van der Holt B, Labalette M, Spierings E, Picard C, Loiseau P, Tamouza R, Toubert A, Parissiadis A, Dubois V, Lafarge X, Maumy-Bertrand M, Bertrand F, Vago L, Ciceri F, Paillard C, Querol S, Sierra J, Fleischhauer K, Nagler A, Labopin M, Inoko H, von dem Borne PA, Kuball J, Ota M, Katsuyama Y, Michallet M, Lioure B, Peffault de Latour R, Blaise D, Cornelissen JJ, Yakoub-Agha I, Claas F, Moreau P, Milpied N, Charron D, Mohty M, Zeiser R, Socié G, Bahram S. Matching for the nonconventional MHC-I MICA gene significantly reduces the incidence of acute and chronic GVHD. Blood. 2016 Oct 13;128(15):1979-1986.

2015

1.Nocturne G, Tarn J, Boudaoud S, Locke J, Miceli-Richard C, Hachulla E, Dubost JJ, Bowman S, Gottenberg JE, Criswell LA, Lessard CJ, Sivils KL, Carapito R, Bahram S, Seror R, Ng WF, Mariette X. Germline variation of TNFAIP3 in primary Sjogren's syndrome-associated lymphoma. Annals of the rheumatic diseases 2015.

2.Meyer A, Lannes B, Carapito R, Bahram S, Echaniz-Laguna A, Geny B, Sibilia J, Gottenberg JE. Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis. Neuromuscular disorders : NMD 2015;25:149-52.

3.Carapito R, Shahram F, Michel S, Le Gentil M, Radosavljevic M, Meguro A, Abdollahi BS, Inoko H, Ota M, Davatchi F, Bahram S. On the genetics of the Silk Route: association analysis of HLA, IL10, and IL23R-IL12RB2 regions with Behcet's disease in an Iranian population. Immunogenetics 2015;67:289-93.

4.Carapito R, Poustchi H, Kwemou M, Untrau M, Sharifi AH, Merat S, Haj-Sheykholeslami A, Jabbari H, Esmaili S, Michel S, Toussaint J, Le Gentil M, Ansari-Moghaddam A, Radosavljevic M, Etemadi A, Georgel P, Malekzadeh R, Bahram S. Polymorphisms in EGFR and IL28B are associated with spontaneous clearance in an HCV-infected iranian population. Genes and immunity 2015;16:514-8.

5.Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Movement disorders : official journal of the Movement Disorder Society 2015;30:423-7.

6.Carapito R, Isidor B, Guerouaz N, Untrau M, Radosavljevic M, Launay E, Cassagnau E, Frenard C, Aubert H, Romefort B, Le Caignec C, Ott L, Paul N, Barbarot S, Bahram S. Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist. The British journal of dermatology 2015;172:302-5.

 

7.Carapito R, Bahram S. Genetics, genomics, and evolutionary biology of NKG2D ligands. Immunological reviews 2015;267:88-116.

2014

1.Meyer A, Carapito R*, Ott L, Radosavljevic M, Georgel P, Adams EJ, Parham P, Bontrop RE, Blancher A, Bahram S. High diversity of MIC genes in non-human primates. Immunogenetics 2014;66:581-7

2.Carapito R, Paul N, Untrau M, Ott L, Corradini N, Poignant S, Geffroy L, Caldagues E, Heymann MF, Cassagnau E, Isidor B, Bahram S. A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. Journal of human genetics 2014;59:57-9.