Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 16

1.

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

Itan Y, Mazel M, Mazel B, Abhyankar A, Nitschke P, Quintana-Murci L, Boisson-Dupuis S, Boisson B, Abel L, Zhang SY, Casanova JL.

BMC Genomics. 2014 Apr 3;15:256. doi: 10.1186/1471-2164-15-256.

PMID:
24694260
[PubMed - in process]
Free PMC Article
2.

Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data.

Seligman SJ, Cohen JE, Itan Y, Casanova JL, Pezzullo JC.

Am J Trop Med Hyg. 2014 Feb;90(2):267-71. doi: 10.4269/ajtmh.13-0542. Epub 2014 Jan 6.

PMID:
24394480
[PubMed - indexed for MEDLINE]
3.

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S.

Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Erratum in: Blood. 2014 Mar 6;123(10):1622.

PMID:
23963039
[PubMed - indexed for MEDLINE]
4.

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL.

Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.

PMID:
23579497
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The human gene connectome as a map of short cuts for morbid allele discovery.

Itan Y, Zhang SY, Vogt G, Abhyankar A, Herman M, Nitschke P, Fried D, Quintana-Murci L, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18.

PMID:
23509278
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S.

PLoS One. 2013;8(3):e58286. doi: 10.1371/journal.pone.0058286. Epub 2013 Mar 5.

PMID:
23472171
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Modeling recent human evolution in mice by expression of a selected EDAR variant.

Kamberov YG, Wang S, Tan J, Gerbault P, Wark A, Tan L, Yang Y, Li S, Tang K, Chen H, Powell A, Itan Y, Fuller D, Lohmueller J, Mao J, Schachar A, Paymer M, Hostetter E, Byrne E, Burnett M, McMahon AP, Thomas MG, Lieberman DE, Jin L, Tabin CJ, Morgan BA, Sabeti PC.

Cell. 2013 Feb 14;152(4):691-702. doi: 10.1016/j.cell.2013.01.016.

PMID:
23415220
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S.

Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16.

PMID:
23161749
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Evolutionary genetic dissection of human interferons.

Manry J, Laval G, Patin E, Fornarino S, Itan Y, Fumagalli M, Sironi M, Tichit M, Bouchier C, Casanova JL, Barreiro LB, Quintana-Murci L.

J Exp Med. 2011 Dec 19;208(13):2747-59. doi: 10.1084/jem.20111680. Epub 2011 Dec 12.

PMID:
22162829
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Herders of Indian and European cattle share their predominant allele for lactase persistence.

Gallego Romero I, Basu Mallick C, Liebert A, Crivellaro F, Chaubey G, Itan Y, Metspalu M, Eaaswarkhanth M, Pitchappan R, Villems R, Reich D, Singh L, Thangaraj K, Thomas MG, Swallow DM, Mirazón Lahr M, Kivisild T.

Mol Biol Evol. 2012 Jan;29(1):249-60. doi: 10.1093/molbev/msr190. Epub 2011 Aug 11.

PMID:
21836184
[PubMed - indexed for MEDLINE]
Free Article
11.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL.

J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.

PMID:
21727188
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Evolution of lactase persistence: an example of human niche construction.

Gerbault P, Liebert A, Itan Y, Powell A, Currat M, Burger J, Swallow DM, Thomas MG.

Philos Trans R Soc Lond B Biol Sci. 2011 Mar 27;366(1566):863-77. doi: 10.1098/rstb.2010.0268.

PMID:
21320900
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Detecting gene duplications in the human lineage.

Itan Y, Bryson K, Thomas MG.

Ann Hum Genet. 2010 Nov;74(6):555-65. doi: 10.1111/j.1469-1809.2010.00609.x.

PMID:
20946257
[PubMed - indexed for MEDLINE]
14.

A worldwide correlation of lactase persistence phenotype and genotypes.

Itan Y, Jones BL, Ingram CJ, Swallow DM, Thomas MG.

BMC Evol Biol. 2010 Feb 9;10:36. doi: 10.1186/1471-2148-10-36.

PMID:
20144208
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The origins of lactase persistence in Europe.

Itan Y, Powell A, Beaumont MA, Burger J, Thomas MG.

PLoS Comput Biol. 2009 Aug;5(8):e1000491. doi: 10.1371/journal.pcbi.1000491. Epub 2009 Aug 28.

PMID:
19714206
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Lactose digestion and the evolutionary genetics of lactase persistence.

Ingram CJ, Mulcare CA, Itan Y, Thomas MG, Swallow DM.

Hum Genet. 2009 Jan;124(6):579-91. doi: 10.1007/s00439-008-0593-6. Epub 2008 Nov 26.

PMID:
19034520
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk