Lista de obras -

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Can the impact of human genetic variations be predicted?

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Evolutionary genetic dissection of human interferons

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

artículo científico publicado en 2012

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

artículo científico publicado en 2017

Human CRY1 variants associate with attention deficit/hyperactivity disorder

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2015

Human genetic and immunological determinants of critical COVID-19 pneumonia

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

artículo científico publicado en 2014

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2014

Novel primary immunodeficiency candidate genes predicted by the human gene connectome

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2018

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2021

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Lista de obras de

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