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A comprehensive catalog of predicted functional upstream open reading frames in humans

Nucleic acids research, 2018-04, Vol.46 (7), p.3326

2018

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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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Comparative analysis of pseudogenes across three phyla

Proceedings of the National Academy of Sciences - PNAS, 2014-09, Vol.111 (37), p.13361-13366

2014

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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Nature communications, 2021-07, Vol.12 (1), p.4571-4571, Article 4571

2021

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Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Scientific reports, 2021-11, Vol.11 (1), p.21565-21565, Article 21565

2021

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Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

Genome research, 2013-12, Vol.23 (12), p.2042

2013

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MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Nature communications, 2020-10, Vol.11 (1), p.4093-4093, Article 4093

2020

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Seroprevalence of Strongyloides stercoralis infection in a South Indian adult population

PLoS neglected tropical diseases, 2022-07, Vol.16 (7), p.e0010561-e0010561

2022

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Enhanced transcriptome maps from multiple mouse tissues reveal evolutionary constraint in gene expression

Nature communications, 2015-01, Vol.6 (1), p.5903-5903, Article 5903

2015

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Comparative analysis of processed ribosomal protein pseudogenes in four mammalian genomes

Genome biology, 2009-01, Vol.10 (1), p.R2-R2

2009

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Prevalence of proximate risk factors of active tuberculosis in latent tuberculosis infection: A cross-sectional study from South India

Frontiers in public health, 2022-10, Vol.10, p.1011388-1011388

2022

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

Genes & development, 2011-01, Vol.25 (1), p.1-10

2011

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Comprehensive analysis of the pseudogenes of glycolytic enzymes in vertebrates: the anomalously high number of GAPDH pseudogenes highlights a recent burst of retrotrans-positional activity

BMC genomics, 2009-10, Vol.10 (1), p.480-480, Article 480

2009

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Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22

Genome research, 2002-02, Vol.12 (2), p.272

2002

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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Nature communications, 2020, Vol.11 (1), p.163-12, Article 163

2020

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Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

Nature genetics, 2020-07, Vol.52 (7), p.680-691

2020

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A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

The New England journal of medicine, 2018-03, Vol.378 (12), p.1096-1106

2018

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Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

Nature genetics, 2021-11, Vol.53 (11), p.1534-1542

2021

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Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Nature genetics, 2022-03, Vol.54 (3), p.240-250

2022

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A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Science (American Association for the Advancement of Science), 2012-02, Vol.335 (6070), p.823-828

2012

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MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants

Nucleic acids research, 2017-10, Vol.45 (18), p.10393

2017

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ALG9 Mutation Carriers Develop Kidney and Liver Cysts

Journal of the American Society of Nephrology, 2019-11, Vol.30 (11), p.2091-2102

2019

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A comprehensive catalog of predicted functional upstream open reading frames in humans

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

Comparative analysis of pseudogenes across three phyla

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Seroprevalence of Strongyloides stercoralis infection in a South Indian adult population

Enhanced transcriptome maps from multiple mouse tissues reveal evolutionary constraint in gene expression

Comparative analysis of processed ribosomal protein pseudogenes in four mammalian genomes

Prevalence of proximate risk factors of active tuberculosis in latent tuberculosis infection: A cross-sectional study from South India

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

Comprehensive analysis of the pseudogenes of glycolytic enzymes in vertebrates: the anomalously high number of GAPDH pseudogenes highlights a recent burst of retrotrans-positional activity

Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Exome sequencing and analysis of 454,787 UK Biobank participants

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

GENCODE: the reference human genome annotation for The ENCODE Project

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants

ALG9 Mutation Carriers Develop Kidney and Liver Cysts

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

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