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

Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488

2020

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Variant interpretation using population databases: Lessons from gnomAD

Human mutation, 2022-08, Vol.43 (8), p.1012-1030

2022

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The ExAC browser: displaying reference data information from over 60 000 exomes

Nucleic acids research, 2017-01, Vol.45 (D1), p.D840-D845

2017

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Dindel: accurate indel calls from short-read data

Genome research, 2011-06, Vol.21 (6), p.961-973

2011

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Transcriptome variation in human tissues revealed by long-read sequencing

Nature (London), 2022-08, Vol.608 (7922), p.353-359

2022

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STRetch: detecting and discovering pathogenic short tandem repeat expansions

Genome Biology, 2018-08, Vol.19 (1), p.121-121, Article 121

2018

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Nature genetics, 2017-04, Vol.49 (4), p.504-510

2017

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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Nature genetics, 2016-10, Vol.48 (10), p.1107-1111

2016

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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

Human mutation, 2015-05, Vol.36 (5), p.513-523

2015

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From patients to partners: participant-centric initiatives in biomedical research

Nature reviews. Genetics, 2012-05, Vol.13 (5), p.371-376

2012

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Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci

Proceedings of the National Academy of Sciences - PNAS, 2017-12, Vol.114 (52), p.E11257-E11266

2017

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Science (American Association for the Advancement of Science), 2019-10, Vol.366 (6463), p.351-356

2019

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Origins and functional impact of copy number variation in the human genome

Nature (London), 2010-04, Vol.464 (7289), p.704-712

2010

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

Nature genetics, 2017-05, Vol.49 (5), p.806-810

2017

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Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis

Neuron (Cambridge, Mass.), 2016-10, Vol.92 (2), p.336-338

2016

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

International journal of epidemiology, 2020-02, Vol.49 (1), p.20-21i

2020

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A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

Nature communications, 2018-05, Vol.9 (1), p.1929-10, Article 1929

2018

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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

Nature communications, 2016-10, Vol.7 (1), p.13293-13293, Article 13293

2016

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The landscape of genomic imprinting across diverse adult human tissues

Genome research, 2015-07, Vol.25 (7), p.927-936

2015

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From variant to function in human disease genetics

Science (American Association for the Advancement of Science), 2021-09, Vol.373 (6562), p.1464-1468

2021

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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

Genome Biology, 2024-04, Vol.25 (1), p.111-16, Article 111

2024

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Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Nature communications, 2017-08, Vol.8 (1), p.382-11, Article 382

2017

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Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree

Current biology, 2009-09, Vol.19 (17), p.1453-1457

2009

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The moral and practical urgency of increasing diversity in genomics

European heart journal, 2023-12, Vol.44 (48), p.5157-5159

2023

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Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

American journal of human genetics, 2014-05, Vol.94 (5), p.760-769

2014

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

Variant interpretation using population databases: Lessons from gnomAD

The ExAC browser: displaying reference data information from over 60 000 exomes

Dindel: accurate indel calls from short-read data

Transcriptome variation in human tissues revealed by long-read sequencing

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

From patients to partners: participant-centric initiatives in biomedical research

Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Origins and functional impact of copy number variation in the human genome

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

Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis

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

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

The landscape of genomic imprinting across diverse adult human tissues

From variant to function in human disease genetics

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree

The moral and practical urgency of increasing diversity in genomics

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

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