Publications by authors named "Joseph Vockley"

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Genomic and molecular characterization of preterm birth.
Theo A Knijnenburg, Joseph G Vockley, Nyasha Chambwe, David L Gibbs, Crystal Humphries

Proc Natl Acad Sci U S A· March 2019

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Author Correction: Parent-of-origin-specific signatures of de novo mutations.
Jakob M Goldmann, Wendy S W Wong, Michele Pinelli, Terry Farrah, Dale Bodian, Joseph G Vockley

Nat Genet· November 2018

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Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Megan S Kane, Thierry Vilboux, Lynne A Wolfe, Paul R Lee, Yupeng Wang, Joseph G Vockley

Brain· September 2016

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Parent-of-origin-specific signatures of de novo mutations.
Jakob M Goldmann, Wendy S W Wong, Michele Pinelli, Terry Farrah, Dale Bodian, Joseph G Vockley

Nat Genet· August 2016

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CloudForest: A Scalable and Efficient Random Forest Implementation for Biological Data.
Ryan Bressler, Richard B Kreisberg, Brady Bernard, John E Niederhuber, Joseph G Vockley

PLoS One· June 2016

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Using Incomplete Trios to Boost Confidence in Family Based Association Studies.
Varsha Dhankani, David L Gibbs, Theo Knijnenburg, Roger Kramer, Joseph Vockley

Front Genet· April 2016

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Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Dale L Bodian, Elisabeth Klein, Ramaswamy K Iyer, Wendy S W Wong, Prachi Kothiyal, Joseph G Vockley

Genet Med· March 2016

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New observations on maternal age effect on germline de novo mutations.
Wendy S W Wong, Benjamin D Solomon, Dale L Bodian, Prachi Kothiyal, Greg Eley, Joseph G Vockley

Nat Commun· January 2016

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Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.
Sanjeevani Arora, Hong Yan, Iltaeg Cho, Hua-Ying Fan, Biao Luo, Joseph G Vockley

Gastroenterology· December 2015

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Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.
Emmanuelle Nicolas, Sanjeevani Arora, Yan Zhou, Ilya G Serebriiskii, Mark D Andrake, Joseph G Vockley

Oncotarget· November 2015

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Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.
Alina Khromykh, Benjamin D Solomon, Dale L Bodian, Eyby L Leon, Ramaswamy K Iyer, Joseph G Vockley

Mol Syndromol· September 2015

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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Joseph G Vockley

Am J Med Genet A· May 2015

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Diagnosis and treatment of cancer using genomics.
Joseph G Vockley, John E Niederhuber

BMJ· May 2015

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Identification of copy number variants in whole-genome data using Reference Coverage Profiles.
Gustavo Glusman, Alissa Severson, Varsha Dhankani, Max Robinson, Terry Farrah, Joseph G Vockley

Front Genet· March 2015

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Dale L Bodian, Justine N McCutcheon, Prachi Kothiyal, Kathi C Huddleston, Ramaswamy K Iyer, Joseph G Vockley

PLoS One· January 2015

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Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.
Dale L Bodian, Benjamin D Solomon, Alina Khromykh, Dzung C Thach, Ramaswamy K Iyer, Joseph G Vockley

Mol Genet Genomic Med· November 2014

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Mutations in NOTCH1 cause Adams-Oliver syndrome.
Anna-Barbara Stittrich, Anna Lehman, Dale L Bodian, Justin Ashworth, Zheyuan Zong, Joseph G Vockley

Am J Hum Genet· September 2014

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Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers.
Jesus Gonzalez-Bosquet, Jacob Calcei, Jun S Wei, Montserrat Garcia-Closas, Mark E Sherman, Joseph Vockley

PLoS One· January 2011

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International network of cancer genome projects.

Nature· April 2010

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