K
Kurt N. Hetrick
Researcher at Johns Hopkins University
Publications - 21
Citations - 5132
Kurt N. Hetrick is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: Exome sequencing & Genome-wide association study. The author has an hindex of 14, co-authored 17 publications receiving 4749 citations. Previous affiliations of Kurt N. Hetrick include Walter and Eliza Hall Institute of Medical Research.
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Journal ArticleDOI
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
Laura J. Scott,Karen L. Mohlke,Lori L. Bonnycastle,Cristen J. Willer,Yun Li,William L. Duren,Michael R. Erdos,Heather M. Stringham,Peter S. Chines,Anne U. Jackson,Ludmila Prokunina-Olsson,Chia-Jen Ding,Amy J. Swift,Narisu Narisu,Tianle Hu,Randall Pruim,Rui Xiao,Xiao-Yi Li,Karen N. Conneely,Nancy Riebow,Andrew G. Sprau,Maurine Tong,Peggy P. White,Kurt N. Hetrick,Michael W. Barnhart,Craig W. Bark,Janet L. Goldstein,Lee Watkins,Fang Xiang,Jouko Saramies,Thomas A. Buchanan,Richard M. Watanabe,Timo T. Valle,Leena Kinnunen,Gonçalo R. Abecasis,Elizabeth W. Pugh,Kimberly F. Doheny,Richard N. Bergman,Jaakko Tuomilehto,Francis S. Collins,Michael Boehnke +40 more
TL;DR: The number of T2D loci now confidently identified to at least 10 is confirmed, and it is confirmed that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are associated with T1D risk.
Journal ArticleDOI
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong,Kati J. Buckingham,Shalini N. Jhangiani,C. D. Boehm,Nara Sobreira,Joshua D. Smith,Tanya M. Harrell,Margaret J. McMillin,Wojciech Wiszniewski,Tomasz Gambin,Zeynep Coban Akdemir,Kimberly F. Doheny,Alan F. Scott,Dimitri Avramopoulos,Aravinda Chakravarti,Julie Hoover-Fong,Debra J. H. Mathews,P. Dane Witmer,Hua Ling,Kurt N. Hetrick,Lee Watkins,Karynne E. Patterson,Frederic Reinier,Elizabeth Blue,Donna M. Muzny,Martin Kircher,Kaya Bilguvar,Francesc López-Giráldez,V. Reid Sutton,Holly K. Tabor,Holly K. Tabor,Suzanne M. Leal,Murat Gunel,Shrikant Mane,Richard A. Gibbs,Eric Boerwinkle,Eric Boerwinkle,Ada Hamosh,Jay Shendure,James R. Lupski,Richard P. Lifton,Richard P. Lifton,David Valle,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad +45 more
TL;DR: This collaborative effort has identified 956 genes, including 375 not previously associated with human health, that underlie a Mendelian phenotype, providing insight into study design and analytical strategies, identify novel mechanisms of disease, and reveal the extensive clinical variability of Mendelia phenotypes.
Journal ArticleDOI
Detectable clonal mosaicism from birth to old age and its relationship to cancer.
Cathy C. Laurie,Cecelia A. Laurie,Kenneth Rice,Kimberly F. Doheny,Leila R. Zelnick,Caitlin P. McHugh,Hua Ling,Kurt N. Hetrick,Elizabeth W. Pugh,Christopher I. Amos,Qingyi Wei,Li-E Wang,Jeffrey E. Lee,Kathleen C. Barnes,Nadia N. Hansel,Rasika A. Mathias,Denise Daley,Terri H. Beaty,Alan F. Scott,Ingo Ruczinski,Robert B. Scharpf,Laura J. Bierut,Sarah M. Hartz,Maria Teresa Landi,Neal D. Freedman,Lynn R. Goldin,David Ginsburg,Jun-Jun Li,Karl C. Desch,Sara S. Strom,William J. Blot,Lisa B. Signorello,Sue A. Ingles,Stephen J. Chanock,Sonja I. Berndt,Loic Le Marchand,Brian E. Henderson,Kristine R. Monroe,John A. Heit,Mariza de Andrade,Sebastian M. Armasu,Cynthia Regnier,William L. Lowe,M. Geoffrey Hayes,Mary L. Marazita,Eleanor Feingold,Jeffrey C. Murray,Mads Melbye,Bjarke Feenstra,Jae H. Kang,Janey L. Wiggs,Gail P. Jarvik,Andrew McDavid,Venkatraman E. Seshan,Daniel B. Mirel,Andrew Crenshaw,Nataliya Sharopova,Anastasia L. Wise,Jess Shen,David R. Crosslin,David M. Levine,Xiuwen Zheng,Jenna Udren,Siiri N. Bennett,Sarah C. Nelson,Stephanie M. Gogarten,Matthew P. Conomos,Patrick J. Heagerty,Teri A. Manolio,Louis R. Pasquale,Christopher A. Haiman,Neil E. Caporaso,Bruce S. Weir +72 more
TL;DR: Clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) is detected using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies to identify common deleted regions with genes previously associated with hematological cancers.
Journal ArticleDOI
Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data
Goo Jun,Matthew Flickinger,Kurt N. Hetrick,Jane Romm,Kimberly F. Doheny,Gonçalo R. Abecasis,Michael Boehnke,Hyun Min Kang +7 more
TL;DR: Through a combination of analysis of in silico and experimentally contaminated samples, it is shown that the methods described can reliably detect and estimate levels of contamination as low as 1%.
Journal ArticleDOI
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm
Janice L. Farlow,Hai Lin,Laura Sauerbeck,Dongbing Lai,Daniel L. Koller,Elizabeth W. Pugh,Kurt N. Hetrick,Hua Ling,Rachel Kleinloog,Pieter van der Vlies,Patrick Deelen,Morris A. Swertz,Bon H. Verweij,Luca Regli,Luca Regli,Gabriel J.E. Rinkel,Ynte M. Ruigrok,Kimberly F. Doheny,Yunlong Liu,Tatiana Foroud,Tatiana Foroud,Joseph P. Broderick,Daniel Woo,Brett M. Kissela,Dawn Kleindorfer,Alex Schneider,Mario Zuccarello,Andrew J. Ringer,Ranjan Deka,Robert D. Brown,John Huston,Irene Mesissner,David O. Wiebers,Adnan I. Qureshi,Peter A. Rasmussen,E. Sander Connolly,Ralph L. Sacco,Marc Malkaff,Troy D. Payner,Gary G. Ferguson,E. Francois Aldrich,Guy A. Rouleau,Craig S. Anderson,Edward W. Mee,Graeme J. Hankey,Neville W. Knuckey,Peter L. Reilly,John Laidlaw,Paul D'Urso,Jeffrey V. Rosenfeld,Michael K. Morgan,Nicholas W. C. Dorsch,Michael Besser,H. Hunt Batjer,M. T. Richard,Amin B. Kassam,Gary K. Steinberg,S. Claiborne Johnston,Nerissa U. Ko,Steven L. Giannotta,Neal F. Kassell,Bradford B. Worrall,Kenneth C. Lui,Aaron S. Dumont,David L. Tirschell,Anthony M. Kaufmann,Winfield S. Fisher,Khaled Aziz,Arthur L. Day,Rose Du,Christopher S. Ogilvy,Stephen B. Lewis,Kieran P. Murphy,Martin G. Radvany,Dheerah Gandhi,Lynda D. Lisabeth,Aditya S. Pandey,Lewis B. Morgenstern,Colin P. Derdeyn,Carl D. Langefeld,Joan E. Bailey-Wilson +80 more
TL;DR: It is demonstrated that sequencing of densely affected families permits exploration of the role of rare variants in a relatively common disease such as IA, although there are important study design considerations for applying sequencing to complex disorders.