List of works - Daniel G. MacArthur

A brief history of human disease genetics

scientific article published on 08 January 2020

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

scientific article published on 21 March 2019

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

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

scientific article (publication date: 17 August 2016)

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

scientific article published on June 2014

Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease

scientific article

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

scientific article published on 24 March 2020

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

scientific article published on 27 May 2020

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people

scientific article published on 01 February 2020

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Corrigendum: Landscape of X chromosome inactivation across human tissues

scientific article published in Nature

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1

scientific article

Defining the human reference protein-coding gene set.

scientific article published on 11 October 2010

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

scientific article

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

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 13 September 2016

Evaluating drug targets through human loss-of-function genetic variation

scientific article published on 27 May 2020

Evaluating potential drug targets through human loss-of-function genetic variation

scientific article

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

scientific article published on 14 February 2020

From variant to function in human disease genetics

scholarly article

Gene inactivation and its implications for annotation in the era of personal genomics

scientific article (publication date: 2011)

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

scientific article published on 10 October 2019

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

scientific article

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

scientific article published on April 2017

Human knockouts in a cohort with a high rate of consanguinity

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

scientific article published on 01 January 2019

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

scientific article

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

article

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

scientific article

Integrative annotation of variants from 1092 humans: application to cancer genomics

scientific article

Landscape of X chromosome inactivation across human tissues

scientific article published on October 2017

Landscape of X chromosome inactivation across human tissues

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

scientific article published on 27 May 2020

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

scientific article published on 31 August 2020

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

scientific article published on 22 August 2019

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

scientific article published on 29 August 2020

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Quantitative analysis of population-scale family trees with millions of relatives

scientific article published in March 2018

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

scientific article published on 25 April 2019

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

scientific article published on 29 October 2019

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

scientific article published on 01 January 2019

Resolving the full spectrum of human genome variation using Linked-Reads

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

scientific article published on 11 June 2020

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

scientific article published on 01 March 2020

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome

scientific article published on 15 November 2019

The GTEx Consortium atlas of genetic regulatory effects across human tissues

scientific article

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The effect of LRRK2 loss-of-function variants in humans

scientific article published on 27 May 2020

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

scientific article published on 12 February 2020

The genetic and clinical landscape of nanophthalmos in an Australian cohort

scientific article

The landscape of genomic imprinting across diverse adult human tissues

scientific article published on 7 May 2015

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

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Transcriptome variation in human tissues revealed by long-read sequencing

scientific article

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

scientific article published on 01 January 2019

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

scientific article

List of works by Daniel G. MacArthur

A brief history of human disease genetics

A framework for the interpretation of de novo mutation in human disease

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

A structural variation reference for medical and population genetics

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

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

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

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Corrigendum: Landscape of X chromosome inactivation across human tissues

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1

Defining the human reference protein-coding gene set.

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

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

Distribution and medical impact of loss-of-function variants in the Finnish founder population

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Evaluating drug targets through human loss-of-function genetic variation

Evaluating potential drug targets through human loss-of-function genetic variation

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

From variant to function in human disease genetics

Gene inactivation and its implications for annotation in the era of personal genomics

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

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

Human knockouts in a cohort with a high rate of consanguinity

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

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

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Integrative annotation of variants from 1092 humans: application to cancer genomics

Landscape of X chromosome inactivation across human tissues

Landscape of X chromosome inactivation across human tissues

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

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Quantitative analysis of population-scale family trees with millions of relatives

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

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

Resolving the full spectrum of human genome variation using Linked-Reads

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The Genetic Landscape of Diamond-Blackfan Anemia

The effect of LRRK2 loss-of-function variants in humans

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

The genetic and clinical landscape of nanophthalmos in an Australian cohort

The landscape of genomic imprinting across diverse adult human tissues

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

Transcript expression-aware annotation improves rare variant interpretation

Transcriptome and genome sequencing uncovers functional variation in humans

Transcriptome variation in human tissues revealed by long-read sequencing

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

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia