Lista de obras - David B. Goldstein - Dominio Público Uruguay

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

artículo científico publicado en 2017

A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.

artículo científico publicado en 2009

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

artículo científico publicado en 2011

A genome-wide investigation of SNPs and CNVs in schizophrenia

artículo científico publicado en 2009

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

artículo científico publicado en 2009

A whole-genome analysis of premature termination codons

artículo científico publicado en 2011

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

artículo científico publicado en 2007

Ancient and recent positive selection transformed opioid cis-regulation in humans

artículo científico publicado en 2005

Annotating pathogenic non-coding variants in genic regions

artículo científico

Applications of theoretical population genetics to ploidy level evolution and phylogenetic reconstruction

PhD Thesis of David B Goldstein

Clinical application of exome sequencing in undiagnosed genetic conditions

artículo científico publicado en 2012

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

artículo científico publicado en 2015

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

artículo científico publicado en 2012

Common genetic variation and performance on standardized cognitive tests

artículo científico publicado en 2010

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

scientific journal article

Common genetic variation and the control of HIV-1 in humans

artículo científico publicado en 2009

Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population

artículo científico publicado en 2011

Common variants conferring risk of schizophrenia

artículo científico publicado en 2009

Copy number variation of KIR genes influences HIV-1 control

artículo científico publicado en 2011

Correction: Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure.

artículo científico publicado en 2012

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

artículo científico publicado en 2017

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

artículo científico publicado en 2012

De novo mutations in epileptic encephalopathies

artículo científico publicado en 2013

Determinants of protection among HIV‐exposed seronegative persons: an overview

artículo científico publicado en 2010

Distinct neurological disorders with ATP1A3 mutations

artículo científico publicado en 2014

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

artículo científico publicado en 2015

Ethical challenges in genotype-driven research recruitment

artículo científico publicado en 2010

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

artículo científico publicado en 2012

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

artículo científico publicado en 2012

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 25 November 2019

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia

scientific article published on 18 September 2020

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19

artículo científico publicado en 2020

Finding the missing heritability of complex diseases

artículo científico publicado en 2009

Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors

artículo científico publicado en 2002

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

artículo científico publicado en 2013

Genetic variation in IL28B and spontaneous clearance of hepatitis C virus

artículo científico publicado en 2009

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance

artículo científico publicado en 2009

Genic intolerance to functional variation and the interpretation of personal genomes

artículo científico publicado en 2013

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

artículo científico publicado en 2008

Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients

artículo científico publicado en 2011

Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals

artículo científico publicado en 2010

Genome-wide scan of copy number variation in late-onset Alzheimer's disease

artículo científico publicado en 2010

Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure

artículo científico publicado en 2011

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

artículo científico publicado en 2011

Geographical genomics of human leukocyte gene expression variation in southern Morocco

artículo científico publicado en 2009

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

artículo científico publicado en 2016

H UMAN M IGRATIONS AND P OPULATION S TRUCTURE : What We Know and Why it Matters

artículo científico publicado en 2002

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

artículo científico publicado en 2011

Host determinants of HIV-1 control in African Americans

artículo científico publicado en 2010

Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial

artículo científico publicado en 2011

Host genetics and HIV-1: the final phase?

artículo científico publicado en 2010

IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C.

artículo científico publicado en 2010

Interleukin-28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus

artículo científico publicado en 2010

Large recurrent microdeletions associated with schizophrenia

artículo científico publicado en 2008

Large-scale pathways-based association study in amyotrophic lateral sclerosis

artículo científico publicado en 2007

Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries

artículo científico publicado en 2003

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

artículo científico publicado en 2013

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2012

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

artículo científico publicado en 2016

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

artículo científico publicado en 2007

Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis

artículo científico publicado en 2009

Population genetic structure of variable drug response

artículo científico publicado en 2001

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium

artículo científico publicado en 2012

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

artículo científico publicado en 2020

Quantitation of pretreatment serum interferon-γ-inducible protein-10 improves the predictive value of an IL28B gene polymorphism for hepatitis C treatment response

artículo científico publicado en 2011

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

artículo científico publicado en 2010

Rare genetic causes of complex kidney and urological diseases

artículo científico publicado en 2020

Rare-variant collapsing analyses for complex traits: guidelines and applications

scientific article published on 11 October 2019

SVA: software for annotating and visualizing sequenced human genomes

artículo científico publicado en 2011

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

artículo científico publicado en 2010

The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression

artículo científico publicado en 2009

The characterization of twenty sequenced human genomes

artículo científico publicado en 2010

The genetics of neuropsychiatric diseases: looking in and beyond the exome

artículo científico

Tissue-specific genetic control of splicing: implications for the study of complex traits

artículo científico publicado en 2008

Using ERDS to infer copy-number variants in high-coverage genomes

artículo científico publicado en 2012

Utilizing population controls in rare-variant case-parent association tests

artículo científico publicado en 2014

Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction

artículo científico publicado en 2010

Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes

artículo científico publicado en 2011

Which evolutionary processes influence natural genetic variation for phenotypic traits?

artículo científico publicado en 2007

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

artículo científico publicado en 2010

Lista de obras de David B. Goldstein

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

A genome-wide investigation of SNPs and CNVs in schizophrenia

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

A whole-genome analysis of premature termination codons

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

Ancient and recent positive selection transformed opioid cis-regulation in humans

Annotating pathogenic non-coding variants in genic regions

Applications of theoretical population genetics to ploidy level evolution and phylogenetic reconstruction

Clinical application of exome sequencing in undiagnosed genetic conditions

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

Common genetic variation and performance on standardized cognitive tests

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

Common genetic variation and the control of HIV-1 in humans

Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population

Common variants conferring risk of schizophrenia

Copy number variation of KIR genes influences HIV-1 control

Correction: Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

De novo mutations in epileptic encephalopathies

Determinants of protection among HIV‐exposed seronegative persons: an overview

Distinct neurological disorders with ATP1A3 mutations

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Ethical challenges in genotype-driven research recruitment

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19

Finding the missing heritability of complex diseases

Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Genetic variation in IL28B and spontaneous clearance of hepatitis C virus

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance

Genic intolerance to functional variation and the interpretation of personal genomes

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients

Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals

Genome-wide scan of copy number variation in late-onset Alzheimer's disease

Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

Geographical genomics of human leukocyte gene expression variation in southern Morocco

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

H UMAN M IGRATIONS AND P OPULATION S TRUCTURE : What We Know and Why it Matters

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

Host determinants of HIV-1 control in African Americans

Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial

Host genetics and HIV-1: the final phase?

IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C.

Interleukin-28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus

Large recurrent microdeletions associated with schizophrenia

Large-scale pathways-based association study in amyotrophic lateral sclerosis

Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis

Population genetic structure of variable drug response

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Quantitation of pretreatment serum interferon-γ-inducible protein-10 improves the predictive value of an IL28B gene polymorphism for hepatitis C treatment response

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

Rare genetic causes of complex kidney and urological diseases

Rare-variant collapsing analyses for complex traits: guidelines and applications

SVA: software for annotating and visualizing sequenced human genomes

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression

The characterization of twenty sequenced human genomes

The genetics of neuropsychiatric diseases: looking in and beyond the exome

Tissue-specific genetic control of splicing: implications for the study of complex traits

Using ERDS to infer copy-number variants in high-coverage genomes

Utilizing population controls in rare-variant case-parent association tests

Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction