PubRank

Avinash Abhyankar

Author PubWeight™ 38.30‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 2011 3.63
2 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012 2.86
3 Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 2010 2.70
4 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet 2011 2.52
5 Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol 2012 2.38
6 Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature 2012 2.32
7 Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 2010 2.17
8 Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science 2012 2.06
9 Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 2013 1.57
10 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011 1.55
11 Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med 2012 1.35
12 New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet 2013 1.22
13 A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat 2014 1.21
14 Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J Exp Med 2013 1.14
15 Increased renal arterial resistance predicts the course of renal function in type 2 diabetes with microalbuminuria. Diabetes 2006 1.12
16 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet 2012 1.10
17 The human gene connectome as a map of short cuts for morbid allele discovery. Proc Natl Acad Sci U S A 2013 1.10
18 Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J Clin Invest 2012 1.00
19 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. PLoS One 2013 0.97
20 Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat 2012 0.93
21 HGCS: an online tool for prioritizing disease-causing gene variants by biological distance. BMC Genomics 2014 0.91
22 Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One 2012 0.91
23 Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet 2012 0.87
24 A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One 2012 0.85
25 Altered transcapillary escape of albumin and microalbuminuria reflects two different pathogenetic mechanisms. Diabetes 2005 0.80