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Author Details

Kurt N Hetrick
Center for Inherited Disease Research, Johns Hopkins School of Medicine
2007
24
17
PMIDPaper TitleJournal TitlePublished Year
36018819Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men.Hum Mol Genet2023
37733366Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.JAMA Oncol2023
36921087Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.Am J Respir Crit Care Med2023
34782259Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.J Cyst Fibros2022
32853339Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.J Natl Cancer Inst2021
29859855Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma.EBioMedicine2018
28075488Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing.Curr Protoc Hum Genet2017
26239294Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans.Mol Psychiatry2016
26595808Whole-Exome Sequencing in Familial Parkinson Disease.JAMA Neurol2016
27416908A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia.Leukemia2016
25569433Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.Genet Med2015
26166479The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.Am J Hum Genet2015
25803036Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.PLoS One2015
24387990Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.Am J Hum Genet2014
25565926Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.Mol Syndromol2014
24595103Mutations in Alström protein impair terminal differentiation of cardiomyocytes.Nat Commun2014
22561516Detectable clonal mosaicism from birth to old age and its relationship to cancer.Nat Genet2012
23103226Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data.Am J Hum Genet2012
21478196Performance assessment of copy number microarray platforms using a spike-in experiment.Bioinformatics2011
21829596Copy number variation in familial Parkinson disease.PLoS One2011
19910028A genome-wide association study on African-ancestry populations for asthma.J Allergy Clin Immunol2010
19661241R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips.Bioinformatics2009
20018050Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data.BMC Proc2009
17463248A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.Science2007
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Collaborators

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Co-authored papers 20
Chongqing Center for Disease Control and Prevention.
Co-authored papers 11
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Co-authored papers 6
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Co-authored papers 5
University of Southern California
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National Cancer Institute, National Institutes of Health
Co-authored papers 4
The Institute of Cancer Research
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Co-authored papers 3
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University of Washington
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Indiana University School of Medicine
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Regeneron Pharmaceuticals Inc.
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University of Washington
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The Institute of Cancer Research
Co-authored papers 3
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Fred Hutchinson Cancer Center
Co-authored papers 3
Johns Hopkins University School of Medicine
Co-authored papers 2
Johns Hopkins School of Medicine
Co-authored papers 2
Baylor College of Medicine
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