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Items: 1 to 20 of 37

1.

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent QB, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A; Exome/Array Consortium, Alcais A, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8. doi: 10.1073/pnas.1606460113. Epub 2016 May 31.

2.

Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications.

Creemer OJ, Ansari-Pour N, Ekong R, Tarekegn A, Plaster C, Bains RK, Itan Y, Bekele E, Bradman N.

Pharmacogenet Genomics. 2016 Jun;26(6):255-70. doi: 10.1097/FPC.0000000000000207.

PMID:
27139836
3.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD.

N Engl J Med. 2016 Mar 17;374(11):1032-43. doi: 10.1056/NEJMoa1512234.

PMID:
26981933
4.

The mutation significance cutoff: gene-level thresholds for variant predictions.

Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL.

Nat Methods. 2016 Feb;13(2):109-10. doi: 10.1038/nmeth.3739. No abstract available.

PMID:
26820543
5.

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.

Deschamps M, Laval G, Fagny M, Itan Y, Abel L, Casanova JL, Patin E, Quintana-Murci L.

Am J Hum Genet. 2016 Jan 7;98(1):5-21. doi: 10.1016/j.ajhg.2015.11.014.

PMID:
26748513
6.

The human gene damage index as a gene-level approach to prioritizing exome variants.

Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20. doi: 10.1073/pnas.1518646112. Epub 2015 Oct 19.

7.

Can the impact of human genetic variations be predicted?

Itan Y, Casanova JL.

Proc Natl Acad Sci U S A. 2015 Sep 15;112(37):11426-7. doi: 10.1073/pnas.1515057112. Epub 2015 Sep 8. No abstract available.

8.

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S.

J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24.

9.

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CS, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL.

Science. 2015 Aug 7;349(6248):606-13. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9.

10.

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.

Rissone A, Weinacht KG, la Marca G, Bishop K, Giocaliere E, Jagadeesh J, Felgentreff K, Dobbs K, Al-Herz W, Jones M, Chandrasekharappa S, Kirby M, Wincovitch S, Simon KL, Itan Y, DeVine A, Schlaeger T, Schambach A, Sood R, Notarangelo LD, Candotti F.

J Exp Med. 2015 Jul 27;212(8):1185-202. doi: 10.1084/jem.20141286. Epub 2015 Jul 6.

11.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, İkincioğulları A, Al-Herz W, Helminen M, Doğu F, Casanova JL, Boztuğ K, Notarangelo LD.

N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462.

12.

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, Lidov HG, Hopkins G, Du L, Belkadi A, Chrabieh M, Itan Y, Picard C, Fournet JC, Eibel H, Tsitsikov E, Pai SY, Abel L, Al-Herz W, Casanova JL, Israel A, Notarangelo LD.

J Exp Med. 2015 Jun 1;212(6):939-51. doi: 10.1084/jem.20141130. Epub 2015 May 25.

13.

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy R, Migaud M, Boisson B, Bolze A, Itan Y, Goudin N, Cottineau J, Picard C, Abel L, Bustamante J, Casanova JL, Puel A.

J Exp Med. 2015 May 4;212(5):619-31. doi: 10.1084/jem.20141065. Epub 2015 Apr 27.

14.

Novel primary immunodeficiency candidate genes predicted by the human gene connectome.

Itan Y, Casanova JL.

Front Immunol. 2015 Apr 1;6:142. doi: 10.3389/fimmu.2015.00142. eCollection 2015.

15.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, Shang L, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8. doi: 10.1073/pnas.1418631112. Epub 2015 Mar 31.

16.

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.

Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, Picard C, Ringuier B, Troussier F, Chaussabel D, Abel L, Pellier I, Notarangelo LD, García-Sastre A, Basler CF, Geissmann F, Zhang SY, Snoeck HW, Casanova JL.

Science. 2015 Apr 24;348(6233):448-53. doi: 10.1126/science.aaa1578. Epub 2015 Mar 26.

17.

Evolutionary Genomics.

Itan Y, Gerbault P, Pines G.

Evol Bioinform Online. 2016 Apr 20;11(Suppl 2):53-5. doi: 10.4137/EBO.S39729. eCollection 2015. No abstract available.

18.

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.

Torres JM, Martinez-Barricarte R, García-Gómez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jiménez-Reinoso A, del Pino L, Rodríguez-Pena R, Ferreira A, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Díaz-Almirón M, López-Collazo E, Unzueta-Roch JL, Sánchez-Ramón S, Regueiro JR, López-Granados E, Casanova JL, Pérez de Diego R.

J Clin Invest. 2014 Dec;124(12):5239-48. doi: 10.1172/JCI77493. Epub 2014 Nov 3.

19.

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK, Seppänen M, Hautala T, Ciancanelli MJ, Itan Y, Lafaille FG, Dell W, Lorenzo L, Byun M, Pauwels E, Rönnelid Y, Cai X, Boucherit S, Jouanguy E, Paetau A, Lebon P, Rozenberg F, Tardieu M, Abel L, Yildiran A, Vergison A, Roivainen R, Etzioni A, Tienari PJ, Casanova JL, Zhang SY.

Neurology. 2014 Nov 18;83(21):1888-97. doi: 10.1212/WNL.0000000000000999. Epub 2014 Oct 22.

20.

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S.

Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12.

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