Avinash Abhyankar
Avinash Abhyankar
Sr. Director, Bioinformatics at New York Genome Center
Verified email at - Homepage
Cited by
Cited by
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
L Liu, S Okada, XF Kong, AY Kreins, S Cypowyj, A Abhyankar, J Toubiana, ...
The Journal of Experimental Medicine 208 (8), 1635, 2011
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency
D Bogunovic, M Byun, LA Durfee, A Abhyankar, O Sanal, D Mansouri, ...
Science 337 (6102), 1684-1688, 2012
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
G Barcia, MR Fleming, A Deligniere, VR Gazula, MR Brown, M Langouet, ...
Nature genetics 44 (11), 1255-1259, 2012
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
B Boisson, E Laplantine, C Prando, S Giliani, E Israelsson, Z Xu, ...
Nature immunology 13 (12), 1178-1186, 2012
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells
FG Lafaille, IM Pessach, SY Zhang, MJ Ciancanelli, M Herman, ...
Nature 491 (7426), 769-773, 2012
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
M Byun, A Abhyankar, V Lelarge, S Plancoulaine, A Palanduz, L Telhan, ...
The Journal of experimental medicine 207 (11), 2307, 2010
A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination
AT Wang, T Kim, JE Wagner, BA Conti, FP Lach, AL Huang, H Molina, ...
Molecular cell 59 (3), 478-490, 2015
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
M Herman, M Ciancanelli, YH Ou, L Lorenzo, M Klaudel-Dreszler, ...
Journal of Experimental Medicine 209 (9), 1567-1582, 2012
Mutations in the TGF [beta] Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ...
The American Journal of Human Genetics, 2011
Whole-exome-sequencing-based discovery of human FADD deficiency
A Bolze, M Byun, D McDonald, NV Morgan, A Abhyankar, L Premkumar, ...
The American Journal of Human Genetics, 2010
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
A Bolze, N Mahlaoui, M Byun, B Turner, N Trede, SR Ellis, A Abhyankar, ...
Science 340 (6135), 976-978, 2013
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
C Le Goff, C Mahaut, A Abhyankar, W Le Goff, V Serre, A Afenjar, ...
Nature genetics 44 (1), 85-88, 2012
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
A Crequer, A Troeger, E Patin, CS Ma, C Picard, V Pedergnana, C Fieschi, ...
The Journal of clinical investigation 122 (9), 3239-3247, 2012
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
A Crequer, C Picard, E Patin, A D’Amico, A Abhyankar, M Munzer, ...
Public Library of Science 7 (8), e44010, 2012
Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia
KA Rickman, FP Lach, A Abhyankar, FX Donovan, EM Sanborn, ...
Cell reports 12 (1), 35-41, 2015
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
C Michot, C Le Goff, A Goldenberg, A Abhyankar, C Klein, E Kinning, ...
The American Journal of Human Genetics 90 (4), 740-745, 2012
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
M Byun, CS Ma, A Akçay, V Pedergnana, U Palendira, J Myoung, ...
Journal of Experimental Medicine 210 (9), 1743-1759, 2013
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
S Thomas, KJ Wright, SL Corre, A Micalizzi, M Romani, A Abhyankar, ...
Human mutation 35 (1), 137-146, 2014
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
B Soltész, B Tóth, N Shabashova, A Bondarenko, S Okada, S Cypowyj, ...
Journal of medical genetics 50 (9), 567-578, 2013
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