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Page 1
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. Itan Y, et al. Among authors: abhyankar a. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18. Proc Natl Acad Sci U S A. 2013. PMID: 23509278 Free PMC article.
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.
Herman M, Ciancanelli M, Ou YH, Lorenzo L, Klaudel-Dreszler M, Pauwels E, Sancho-Shimizu V, Pérez de Diego R, Abhyankar A, Israelsson E, Guo Y, Cardon A, Rozenberg F, Lebon P, Tardieu M, Heropolitanska-Pliszka E, Chaussabel D, White MA, Abel L, Zhang SY, Casanova JL. Herman M, et al. Among authors: abhyankar a. J Exp Med. 2012 Aug 27;209(9):1567-82. doi: 10.1084/jem.20111316. Epub 2012 Jul 30. J Exp Med. 2012. PMID: 22851595 Free PMC article.
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. Belkadi A, et al. Among authors: abhyankar a. Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8. doi: 10.1073/pnas.1606460113. Epub 2016 May 31. Proc Natl Acad Sci U S A. 2016. PMID: 27247391 Free PMC article. Clinical Trial.
Whole-exome-sequencing-based discovery of human FADD deficiency.
Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL. Bolze A, et al. Among authors: abhyankar a. Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109225 Free PMC article.
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. Kong XF, et al. Among authors: abhyankar a. Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161749 Free PMC article.
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. Bolze A, et al. Among authors: abhyankar a. Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11. Science. 2013. PMID: 23579497 Free PMC article.
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
Israel L, Wang Y, Bulek K, Della Mina E, Zhang Z, Pedergnana V, Chrabieh M, Lemmens NA, Sancho-Shimizu V, Descatoire M, Lasseau T, Israelsson E, Lorenzo L, Yun L, Belkadi A, Moran A, Weisman LE, Vandenesch F, Batteux F, Weller S, Levin M, Herberg J, Abhyankar A, Prando C, Itan Y, van Wamel WJB, Picard C, Abel L, Chaussabel D, Li X, Beutler B, Arkwright PD, Casanova JL, Puel A. Israel L, et al. Among authors: abhyankar a. Cell. 2017 Feb 23;168(5):789-800.e10. doi: 10.1016/j.cell.2017.01.039. Cell. 2017. PMID: 28235196 Free PMC article.
174 results