List of works - Anne H O'Donnell-Luria

A Clinician's perspective on clinical exome sequencing.

scientific article published on 28 April 2016

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

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

scientific article published on 5 August 2014

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

scientific article published on 24 October 2020

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

scientific article (publication date: 17 August 2016)

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

scientific article

Centers for Mendelian Genomics: A decade of facilitating gene discovery

scientific article published on 09 February 2022

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

scientific article published on 27 May 2020

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

scientific article

ClinVar data parsing

scientific article

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.

scientific article

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

scientific article

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

scientific article published on April 2017

Identification of pathogenic variant enriched regions across genes and gene families

scientific article published on 23 December 2019

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Increased DNA methylation in the suicide brain

scientific article

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

scientific article published on 13 January 2022

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

scientific article published on 27 May 2020

Mammalian cytosine methylation at a glance.

scientific article published on August 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

scientific article published on 24 January 2022

Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis

scientific article published on December 2014

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

scientific article published on 2 December 2011

Mutations in ARID2 are associated with intellectual disabilities.

scientific article

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

scientific article published on 14 September 2021

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 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.

scientific article

Solvent isotope effects on alpha-glucosidase.

scientific article published in December 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

scientific article published on 27 May 2020

Transcript expression-aware annotation improves rare variant interpretation

scientific article published on 27 May 2020

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

scientific article

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

scientific article published on 01 January 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.

scientific article published on 18 May 2017

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

scientific article published on 11 August 2017

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

scientific article published on 03 October 2018

List of works by 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