List of works - Avinash Abhyankar

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

scientific journal article

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

scientific article published in 2012

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

scientific article

A novel mutation in the POLE2 gene causing combined immunodeficiency.

scientific article published on 11 September 2015

Altered transcapillary escape of albumin and microalbuminuria reflects two different pathogenetic mechanisms

scientific article published in January 2005

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer

scientific article published on 21 August 2018

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

scientific article published on 27 June 2018

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.

scientific article

Comparative sequence analysis of the non-protein-coding mitochondrial DNA of inbred rat strains

scientific article

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

scientific article

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

scientific article published on 25 June 2015

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies

scientific article published on 23 October 2020

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

scientific article published on 03 June 2016

Disease variants in genomes of 44 centenarians.

scientific article

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

scientific article published on 30 April 2020

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

scientific article published on 7 June 2012

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

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

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

scientific article published in March 2018

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

scientific article

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

scientific article published on 16 November 2012

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

scientific article

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

scientific article published on February 2017

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

scientific article (publication date: 4 September 2012)

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

scientific article

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

scientific article

Increased renal arterial resistance predicts the course of renal function in type 2 diabetes with microalbuminuria

scientific article published on 01 January 2006

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

scientific article

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

scientific article published on 29 July 2013

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

scientific article

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

scientific article

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

scientific article published on 24 May 2013

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities

scientific article published on 01 January 2019

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

scientific article published on 14 January 2021

The human gene connectome as a map of short cuts for morbid allele discovery

scientific article published on 18 March 2013

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

scientific article published on 15 October 2020

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

scientific article published on 31 May 2016

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

scientific article

Whole-exome-sequencing-based discovery of human FADD deficiency

scientific article

List of works by Avinash Abhyankar

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

A novel mutation in the POLE2 gene causing combined immunodeficiency.

Altered transcapillary escape of albumin and microalbuminuria reflects two different pathogenetic mechanisms

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.

Comparative sequence analysis of the non-protein-coding mitochondrial DNA of inbred rat strains

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Disease variants in genomes of 44 centenarians.

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

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

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

Increased renal arterial resistance predicts the course of renal function in type 2 diabetes with microalbuminuria

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

The human gene connectome as a map of short cuts for morbid allele discovery

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

Whole-exome-sequencing-based discovery of human FADD deficiency