| 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 | 879 | 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), 1267-1288, 2018 | 606 | 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 | 546 | 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 | 508 | 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 | 471 | 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 | 357 | 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 | 330 | 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 | 293 | 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 | 288 | 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 | 243 | 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 | 211 | 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 | 199 | 2013 |
| 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 | 158 | 2012 |
| 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 | 157 | 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 | 154 | 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 | 144 | 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 | 138 | 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 | 136 | 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 | 131 | 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 | 131 | 2013 |
Jean-Laurent Casanova, MD, PhDProfessor, Rockefeller University; Investigator, Howard Hughes Medical Institute; Head, St. Giles在 rockefeller.edu 的电子邮件经过验证
