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Avinash Abhyankar

Researcher at Rockefeller University

Publications -  59
Citations -  5743

Avinash Abhyankar is an academic researcher from Rockefeller University. The author has contributed to research in topics: Exome sequencing & Genetic testing. The author has an hindex of 31, co-authored 53 publications receiving 4863 citations. Previous affiliations of Avinash Abhyankar include Lund University.

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

Luyan Liu, +70 more
- 01 Aug 2011 - 
TL;DR: Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Aude Nicolas, +435 more
- 21 Mar 2018 - 
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.
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Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

Dusan Bogunovic, +37 more
- 28 Sep 2012 - 
TL;DR: An experiment of nature shows that human ISGylation is largely redundant for antiviral immunity, but that ISG15 plays an essential role as an IFN-γ–inducing secreted molecule for optimal antimycobacterial immunity.
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Giulia Barcia, +21 more
- 01 Nov 2012 - 
TL;DR: Exome sequencing in three probands with MMPSI and de novo gain-of-function mutations affecting the C-terminal domain of the KCNT1 potassium channel were identified, which led to constitutive activation of the channel.
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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Bertrand Boisson, +40 more
- 01 Dec 2012 - 
TL;DR: It is suggested that LUBAC regulates NF-κB–dependent IL-1β responses differently in different cell types, consistent with the unique association of autoinflammation and immunodeficiency in patients from two kindreds.