T. Manolio

发表

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans.

T. Manolio, D. Roden, J. Denny, 2017, Journal of the American College of Cardiology.

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2021, medRxiv.

Cohort studies and the genetics of complex disease

Teri A Manolio, Teri A. Manolio, T. Manolio, 2009, Nature Genetics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?

Tianyuan Lu, A. D. Paterson, Zhong Wang, 2023, American journal of human genetics.

Characterizing genetic variants for clinical action

Kensaku Kawamoto, Nazneen Rahman, Elaine Lyon, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Gene‐environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop

Peter Kraft, Kimberly McAllister, Eric Boerwinkle, 2011, Genetic epidemiology.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

Dana C Crawford, Yuki Bradford, Mariza de Andrade, 2011, Genetic epidemiology.

Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

Laney K. Jones, David C. Kochan, W. Chung, 2023, Circulation. Genomic and precision medicine.

Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.

John J. Connolly, David C. Kochan, H. Hakonarson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Genotype Imputation of Metabochip SNPs Using a Study-Specific Reference Panel of ~4,000 Haplotypes in African Americans From the Women’s Health Initiative

C. Carty, T. Matise, E. Boerwinkle, 2012 .

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Returning integrated genomic risk and clinical recommendations: the eMERGE study.

Melissa L. Habrat, Jorge A. Alsip, Kathleen F. Mittendorf, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Development of Competency-based Online Genomic Medicine Training (COGENT).

Carolyn R Rohrer Vitek, T. Skaar, J. Wynn, 2022, Personalized medicine.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Guidelines for investigating causality of sequence variants in human disease

D. G. MacArthur, T. A. Manolio, D. P. Dimmock, 2014, Nature.

Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects

Marylyn D. Ritchie, Joshua C. Denny, Teri E. Klein, 2018, Clinical pharmacology and therapeutics.

New Models for Large Prospective Studies: Is There a Better Way?

Tim Peakman, Catherine A. McCarty, J. Michael Gaziano, 2012, American journal of epidemiology.

High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant in APOE

William K. Thompson, C. Carlson, T. Manolio, 2012, Clinical and translational science.

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.

Melissa A. Basford, C. Chute, T. Manolio, 2011, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Genome partitioning of genetic variation for complex traits using common SNPs

W. G. Hill, P. Visscher, E. Boerwinkle, 2011, Nature Genetics.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network

Melissa A. Basford, John J. Connolly, Terrie E. Kitchner, 2016, Clinical pharmacology and therapeutics.

Should all babies have their genome sequenced at birth?

E. Green, D. Curtis, L. Biesecker, 2021, BMJ.

A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough

J G Linneman, William K. Thompson, Pedro L. Teixeira, 2015, The Pharmacogenomics Journal.

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

Amy S. Shah, Marc S. Williams, W. Chung, 2019, npj Genomic Medicine.

Survey of the training needs of genetic assistants supports the creation of genetic assistant training programs.

Ebony B Madden, R. Rowley, T. Manolio, 2023, Journal of Genetic Counseling.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

N. Lennon, H. Hakonarson, J. Cimino, 2023, medRxiv.

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Nancy F. Hansen, Alexander F. Wilson, J. Mullikin, 2009, Genome research.

Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.

Marc S. Williams, Marc S. Williams, H. Hakonarson, 2020, American journal of human genetics.

eXclusionarY: Ten years later, where are the sex chromosomes in GWAS?

Tianyuan Lu, A. D. Paterson, Zhong Wang, 2023, bioRxiv.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

Amy S. Shah, Marc S. Williams, W. Chung, 2019, npj Genomic Medicine.

PROTOCOL FOR A PROSPECTIVE COLLABORATIVE OVERVIEW OF ALL CURRENT AND PLANNED RANDOMIZED TRIALS OF CHOLESTEROL TREATMENT REGIMENS

R. Collins, E. Braunwald, C. Baigent, 1995 .

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.