List of works - Yuval Itan

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

scientific article

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

scientific article published on 14 December 2016

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

scientific article published on April 2017

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

scientific article published on 27 December 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

Can the impact of human genetic variations be predicted?

scientific article

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

scientific article published on 18 July 2016

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data

scientific article

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article published in Nature

Evolutionary genetic dissection of human interferons

scientific article published on 12 December 2011

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

scientific article

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

scientific article published on 27 September 2016

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

scientific article published on 13 June 2016

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

scientific article published on 07 December 2016

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

scientific article

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

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

scientific article published on February 2017

Human CRY1 variants associate with attention deficit/hyperactivity disorder

scientific article published on 15 June 2020

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

scientific article published on 25 May 2015

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

scientific article published on 01 December 2018

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

scientific article

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

scientific article published in February 2018

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

scientific article

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

scientific article

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

scientific article published on 17 April 2017

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

scientific article published on 27 April 2015

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

scientific article published on 09 January 2017

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

scientific article

Novel primary immunodeficiency candidate genes predicted by the human gene connectome

scientific article

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

scientific article published on 20 August 2013

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

scholarly article by Peng Zhang et al published 15 December 2018 in Bioinformatics

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

scientific article published on 18 December 2018

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

scientific article published on 01 July 2019

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

scientific article

The genetic structure of the Turkish population reveals high levels of variation and admixture

scientific article published on 7 September 2021

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

scientific article published on 18 March 2013

The human gene damage index as a gene-level approach to prioritizing exome variants

scientific article

The mutation significance cutoff: gene-level thresholds for variant predictions

scientific article published on January 2016

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

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

scientific article published on 31 May 2016

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

scientific article published on 31 March 2015

List of works by Yuval Itan

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

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

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

Can the impact of human genetic variations be predicted?

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Evolutionary genetic dissection of human interferons

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

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

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

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Human CRY1 variants associate with attention deficit/hyperactivity disorder

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Human genetic and immunological determinants of critical COVID-19 pneumonia

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

Novel primary immunodeficiency candidate genes predicted by the human gene connectome

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

Severe influenza pneumonitis in children with inherited TLR3 deficiency

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

The genetic structure of the Turkish population reveals high levels of variation and admixture

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

The human gene damage index as a gene-level approach to prioritizing exome variants

The mutation significance cutoff: gene-level thresholds for variant predictions

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

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

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants