Lista de obras - Anne H O'Donnell-Luria - Dominio Público Uruguay

A Clinician's perspective on clinical exome sequencing.

artículo científico publicado en 2016

A form of muscular dystrophy associated with pathogenic variants in JAG2

artículo científico publicado en 2021

A structural variation reference for medical and population genetics

artículo científico publicado en 2020

Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression.

artículo científico publicado en 2014

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

artículo científico publicado en 2020

Analysis of protein-coding genetic variation in 60,706 humans

artículo científico publicado en 2016

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma

artículo científico publicado en 2017

Centers for Mendelian Genomics: A decade of facilitating gene discovery

artículo científico publicado en 2022

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

artículo científico publicado en 2020

Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns.

artículo científico publicado en 2010

ClinVar data parsing

artículo científico publicado en 2017

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

artículo científico publicado en 2017

Health and population effects of rare gene knockouts in adult humans with related parents

artículo científico publicado en 2016

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

artículo científico publicado en 2017

Identification of pathogenic variant enriched regions across genes and gene families

artículo científico publicado en 2019

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

artículo científico publicado en 2017

Increased DNA methylation in the suicide brain

artículo científico publicado en 2014

Insights into genetics, human biology and disease gleaned from family based genomic studies

article

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

artículo científico

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

artículo científico publicado en 2020

Mammalian cytosine methylation at a glance.

artículo científico publicado en 2009

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review

scientific article published on 26 July 2018

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

artículo científico publicado en 2022

Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis

artículo científico publicado en 2014

MethylomeDB: a database of DNA methylation profiles of the brain.

artículo científico publicado en 2011

Mutations in ARID2 are associated with intellectual disabilities.

artículo científico publicado en 2015

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

artículo científico publicado en 2021

Quantifying prion disease penetrance using large population control cohorts

artículo científico publicado en 2016

Reply to 'Selective effects of heterozygous protein-truncating variants'

scientific article published on 01 January 2019

Role of CpG context and content in evolutionary signatures of brain DNA methylation.

artículo científico publicado en 2011

Solvent isotope effects on alpha-glucosidase.

artículo científico publicado en 2004

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The landscape of tolerated genetic variation in humans and primates

The mutational constraint spectrum quantified from variation in 141,456 humans

artículo científico publicado en 2020

Transcript expression-aware annotation improves rare variant interpretation

artículo científico publicado en 2020

Turner syndrome: update on biology and management across the life span

artículo científico publicado en 2015

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

artículo científico publicado en 2019

Using high-resolution variant frequencies to empower clinical genome interpretation

article published in 2016

Using high-resolution variant frequencies to empower clinical genome interpretation.

artículo científico publicado en 2017

Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

artículo científico publicado en 2017

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

artículo científico publicado en 2018

Lista de obras de Anne H O'Donnell-Luria

A Clinician's perspective on clinical exome sequencing.

A form of muscular dystrophy associated with pathogenic variants in JAG2

A structural variation reference for medical and population genetics

Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Analysis of protein-coding genetic variation in 60,706 humans

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns.

ClinVar data parsing

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Health and population effects of rare gene knockouts in adult humans with related parents

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Identification of pathogenic variant enriched regions across genes and gene families

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Increased DNA methylation in the suicide brain

Insights into genetics, human biology and disease gleaned from family based genomic studies

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Mammalian cytosine methylation at a glance.

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis

MethylomeDB: a database of DNA methylation profiles of the brain.

Mutations in ARID2 are associated with intellectual disabilities.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Quantifying prion disease penetrance using large population control cohorts

Reply to 'Selective effects of heterozygous protein-truncating variants'

Role of CpG context and content in evolutionary signatures of brain DNA methylation.

Solvent isotope effects on alpha-glucosidase.

The Genetic Landscape of Diamond-Blackfan Anemia

The landscape of tolerated genetic variation in humans and primates

The mutational constraint spectrum quantified from variation in 141,456 humans

Transcript expression-aware annotation improves rare variant interpretation

Turner syndrome: update on biology and management across the life span

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

Using high-resolution variant frequencies to empower clinical genome interpretation

Using high-resolution variant frequencies to empower clinical genome interpretation.

Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

matchbox: An open-source tool for patient matching via the Matchmaker Exchange