T. Person

发表

Rare and low-frequency coding variants alter human adult height

Marcelo P. Segura-Lepe, Dajiang J. Liu, Sara M. Willems, 2016, Nature.

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Ross M. Fraser, M. Jarvelin, L. Liang, 2013, PLoS genetics.

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Marylyn D. Ritchie, Scott Mellis, Alan R. Shuldiner, 2016, Science.

SeqHBase: a big data toolset for family based sequencing data analysis

Peggy L Peissig, Zhan Ye, Gholson J Lyon, 2015, Journal of Medical Genetics.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, Dajiang J. Liu, Sara M. Willems, 2018, Nature Genetics.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2017, Nature Genetics.

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.

Brandon K. Fornwalt, David L. Birtwell, Michael E. Hall, 2019, Circulation.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2018, Nature Genetics.

Genomic Data in the Electronic Health Record

Nephi A. Walton, T. Person, S. Chamala, 2019, Advances in Molecular Pathology.

Convergent horizontal gene transfer and cross-talk of mobile nucleic acids in parasitic plants

Naomi S. Altman, N. Altman, C. dePamphilis, 2019, Nature Plants.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2018, Nature Genetics.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2019, Nature Genetics.

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Alexander E. Lopez, Tanya M. Teslovich, Gaurang C. Patel, 2022, Communications Biology.

Creating a Home for Genomic Data in the Electronic Health Record

Nephi A. Walton, T. Person, M. Williams, 2021, AMIA.

Pilot Implementation of Clinical Genomic Data into the Native Electronic Health Record: Challenges of Scalability

Nephi A. Walton, Marc S. Williams, T. Person, 2020, ACI Open.

Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing: Genotype-Phenotype Association in Incidental ARVC Genetic Findings

Matthew S. Lebo, Alexander E. Lopez, Christopher D. Nevius, 2017 .

Sex-specific association of RAGE and HMGB1 genotype variations with susceptibility to ischemic stroke in Caucasians

V. Abedi, T. Person, C. Griessenauer, 2021, Journal of Clinical Neuroscience.

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

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Nature Communications.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2017, Nature Genetics.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

Daniel R. Lavage, Jason E. Miller, M. Ritchie, 2019, BMC Medical Genomics.

Genetic evidence of assortative mating in humans

Tanya M. Teslovich, Ross M. Fraser, Brendan P. Zietsch, 2017, Nature Human Behaviour.

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

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Scientific Reports.

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Matthew S. Lebo, Daniel R. Lavage, Dustin N. Hartzel, 2018, JAMA network open.

Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing

Matthew S. Lebo, Alexander E. Lopez, Brandon K. Fornwalt, 2017, Genetics in Medicine.

Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network

Agnes S. Sundaresan, Justin H. Gundelach, Nephi A. Walton, 2023, Scientific Reports.

Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population

V. Abedi, T. Person, C. Griessenauer, 2020, Stroke.

Matrix Gla protein polymorphism rs1800801 associates with recurrence of ischemic stroke

H. Kirchner, T. Person, J. Faber, 2020, PloS one.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2018, Nature Genetics.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2019, Nature Genetics.

Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

Daniel R. Lavage, Jason E. Miller, M. Ritchie, 2019, BMC Medical Genomics.

Risk Factors for Acute Ischemic Stroke Caused by Anterior Large Vessel Occlusion

T. Person, J. Faber, N. Rost, 2019, Stroke.

The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health

Nephi A. Walton, David P. Taylor, K. Stefánsson, 2022, Journal of personalized medicine.

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Matthew S. Lebo, Daniel R. Lavage, Dustin N. Hartzel, 2018, JAMA network open.

Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

Daniel R. Lavage, Jason E. Miller, M. Ritchie, 2019, BMC Medical Genomics.

User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis

Michael M. Segal, Nephi A. Walton, Marc S. Williams, 2021, BMJ Health & Care Informatics.

User testing of a Diagnostic Decision Support System with Automated Chart Review to Facilitate Clinical Genomic Diagnosis

Michael M. Segal, N. A. Walton, Nephi A. Walton, 2020, medRxiv.

Supplementary Material 3

Damien C. Croteau Chonka, Nancy L. Heard Costa, Ross M. Fraser, 2008 .

Supplementary Material 1

Damien C. Croteau Chonka, Nancy L. Heard Costa, Ross M. Fraser, 2010 .

Convergent horizontal gene transfer and cross-talk of mobile nucleic acids in parasitic plants

Naomi S. Altman, C. dePamphilis, M. Axtell, 2019, Nature Plants.

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.

Ross M. Fraser, M. Jarvelin, L. Liang, 2013, PLoS genetics.

Edinburgh Research Explorer Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Ross M. Fraser, C. Gieger, D. Absher, 2017 .