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Evolutionary history of Tibetans inferred from whole-genome sequencing

PLoS genetics, 2017-04, Vol.13 (4), p.e1006675-e1006675

2017

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Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

American journal of human genetics, 2014-04, Vol.94 (4), p.599-610

2014

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Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations

PloS one, 2014-03, Vol.9 (3), p.e88252-e88252

2014

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Exome sequencing identifies the cause of a mendelian disorder

Nature genetics, 2010-01, Vol.42 (1), p.30-35

2010

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Relationship estimation from whole-genome sequence data

PLoS genetics, 2014-01, Vol.10 (1), p.e1004144-e1004144

2014

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The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans

PloS one, 2015-10, Vol.10 (10), p.e0141260-e0141260

2015

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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

Genetic epidemiology, 2013-09, Vol.37 (6), p.622-634

2013

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Mobile elements create structural variation: analysis of a complete human genome

Genome Research, 2009-09, Vol.19 (9), p.1516-1526

2009

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Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome

Nature communications, 2024-08, Vol.15 (1), p.7507-10, Article 7507

2024

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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

American journal of human genetics, 2011-07, Vol.89 (1), p.28-43

2011

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PADRE: Pedigree-Aware Distant-Relationship Estimation

American journal of human genetics, 2016-07, Vol.99 (1), p.154-162

2016

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Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon

eLife, 2018-07, Vol.7

2018

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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

Nature biotechnology, 2014-07, Vol.32 (7), p.663-669

2014

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Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation

Nature communications, 2023-03, Vol.14 (1), p.1694-1694, Article 1694

2023

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A probabilistic disease-gene finder for personal genomes

Genome research, 2011-09, Vol.21 (9), p.1529-1542

2011

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Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma

Journal of medical genetics, 2021-03, Vol.58 (3), p.145-153

2021

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Maximum-likelihood estimation of recent shared ancestry (ERSA)

Genome research, 2011-05, Vol.21 (5), p.768-774

2011

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Genetic diversity in India and the inference of Eurasian population expansion

Genome biology, 2010-11, Vol.11 (11), p.R113-R113, Article R113

2010

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Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate

Human molecular genetics, 2022-07, Vol.31 (14), p.2348-2357

2022

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The somatic mutation landscape of premalignant colorectal adenoma

Gut, 2018-07, Vol.67 (7), p.1299-1305

2018

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Dengue Outbreak Response during COVID-19 Pandemic, Key Largo, Florida, USA, 2020

Emerging infectious diseases, 2023-08, Vol.29 (8), p.1643-1647

2023

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Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders

Journal of molecular medicine (Berlin, Germany), 2017-06, Vol.95 (6), p.665-670

2017

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Host genetic effects in pneumonia

American journal of human genetics, 2021-01, Vol.108 (1), p.194-201

2021

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Impact of conditioning chemotherapy on lymphocyte kinetics and outcomes in LBCL patients treated with CAR T-cell therapy

Leukemia, 2022-11, Vol.36 (11), p.2669-2677

2022

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Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes

Biochimica et biophysica acta. Molecular basis of disease, 2018-06, Vol.1864 (6), p.2247-2254

2018

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Evolutionary history of Tibetans inferred from whole-genome sequencing

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations

Exome sequencing identifies the cause of a mendelian disorder

Relationship estimation from whole-genome sequence data

The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

Mobile elements create structural variation: analysis of a complete human genome

Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

PADRE: Pedigree-Aware Distant-Relationship Estimation

Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation

A probabilistic disease-gene finder for personal genomes

Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma

Maximum-likelihood estimation of recent shared ancestry (ERSA)

Genetic diversity in India and the inference of Eurasian population expansion

Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate

The somatic mutation landscape of premalignant colorectal adenoma

Dengue Outbreak Response during COVID-19 Pandemic, Key Largo, Florida, USA, 2020

Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders

Host genetic effects in pneumonia

Impact of conditioning chemotherapy on lymphocyte kinetics and outcomes in LBCL patients treated with CAR T-cell therapy

Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes

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