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Ancestry and Disease in the Age of Genomic Medicine

The New England journal of medicine, 2010-10, Vol.363 (16), p.1551-1558

2010

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Genetic Evidence for High-Altitude Adaptation in Tibet

Science (American Association for the Advancement of Science), 2010-07, Vol.329 (5987), p.72-75

2010

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Pedigree-based estimation of human mobile element retrotransposition rates

Genome research, 2019-10, Vol.29 (10), p.1567

2019

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Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

eLife, 2019-09, Vol.8

2019

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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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Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Science (American Association for the Advancement of Science), 2010-04, Vol.328 (5978), p.636-639

2010

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Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study

PloS one, 2023-02, Vol.18 (2), p.e0281934-e0281934

2023

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The mutational dynamics of short tandem repeats in large, multigenerational families

Genome Biology, 2022-12, Vol.23 (1), p.253-253

2022

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A comprehensive map of mobile element insertion polymorphisms in humans

PLoS genetics, 2011-08, Vol.7 (8), p.e1002236

2011

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Genetic variation, classification and 'race'

Nature genetics, 2004-11, Vol.36 (11), p.S28-S33

2004

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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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Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

American journal of human genetics, 2013-11, Vol.93 (5), p.812-824

2013

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A probabilistic disease-gene finder for personal genomes

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

2011

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Genetic determinants of Tibetan high-altitude adaptation

Human genetics, 2012-04, Vol.131 (4), p.527-533

2012

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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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Relationship estimation from whole-genome sequence data

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

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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Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians

PLoS genetics, 2013-07, Vol.9 (7), p.e1003634

2013

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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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Mobile element insertions and associated structural variants in longitudinal breast cancer samples

Scientific reports, 2021-06, Vol.11 (1), p.13020-12, Article 13020

2021

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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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Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci

Human mutation, 2005-09, Vol.26 (3), p.199-204

2005

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Microsatellites as EWS/FLI response elements in Ewing's sarcoma

Proceedings of the National Academy of Sciences - PNAS, 2008-07, Vol.105 (29), p.10149-10154

2008

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Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR)

PloS one, 2015-06, Vol.10 (6), p.e0131514-e0131514

2015

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Ancestry and Disease in the Age of Genomic Medicine

Genetic Evidence for High-Altitude Adaptation in Tibet

Pedigree-based estimation of human mobile element retrotransposition rates

Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

Evolutionary history of Tibetans inferred from whole-genome sequencing

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study

The mutational dynamics of short tandem repeats in large, multigenerational families

A comprehensive map of mobile element insertion polymorphisms in humans

Genetic variation, classification and 'race'

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

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

A probabilistic disease-gene finder for personal genomes

Genetic determinants of Tibetan high-altitude adaptation

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

Relationship estimation from whole-genome sequence data

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

Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians

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

Mobile element insertions and associated structural variants in longitudinal breast cancer samples

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

Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci

Microsatellites as EWS/FLI response elements in Ewing's sarcoma

Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR)

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