J. Vockley

发表

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Joshua M. Korn, Christopher A. Miller, Derek Y. Chiang, 2008, Nature.

Precision medicine in the age of big data: The present and future role of large‐scale unbiased sequencing in drug discovery and development

J. Vockley, P. Vicini, O. Fields, 2016, Clinical pharmacology and therapeutics.

Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

Ramaswamy K. Iyer, Prachi Kothiyal, John E. Niederhuber, 2014, PloS one.

International network of cancer genome projects

Gary D Bader, Benjamin J. Raphael, Joshua M. Stuart, 2010, Nature.

Parent-of-origin-specific signatures of de novo mutations

J. Roach, L. Vissers, A. Hoischen, 2016, Nature Genetics.

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

J. Vockley, P. Kothiyal, W. Wong, 2015, Genetics in Medicine.

Genomic and molecular characterization of preterm birth

David L. Gibbs, Denise E. Mauldin, L. Hood, 2019, Proceedings of the National Academy of Sciences.

Diagnosis and treatment of cancer using genomics

J. Vockley, J. Niederhuber, 2015, BMJ : British Medical Journal.

Delivery of cytosolic liver arginase into the mitochondrial matrix space: A possible novel site for gene replacement therapy

J. Vockley, W. Grody, S. Cederbaum, 1996, Somatic cell and molecular genetics.

Utility of Whole Genome Sequencing for Detection of Newborn Screening Disorders in a Population Cohort of ∼1700 Neonates

J. Vockley, Aaron D. Black, G. Eley, 2015 .

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio

J. Vockley, D. Bodian, R. Iyer, 2014, Molecular genetics & genomic medicine.

Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia

J. Vockley, D. Tabor, W. Grody, 1994, Human Mutation.

A de novo deletion in FMR1 in a patient with developmental delay.

J. Vockley, D. Nelson, W. Grody, 1994, Human molecular genetics.

Cloning and characterization of the mouse and rat type II arginase genes.

P. S. Kim, J. Vockley, W. Grody, 1998, Molecular genetics and metabolism.

Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome

J. Vockley, D. Bodian, R. Iyer, 2015, American journal of medical genetics. Part A.

Differentiation of human adult and fetal intestinal alkaline phosphatases with monoclonal antibodies.

J. Vockley, H. Harris, L. Meyer, 1984, American journal of human genetics.

Purification of human adult and foetal intestinal alkaline phosphatases by monoclonal antibody immunoaffinity chromatography.

J. Vockley, H. Harris, 1984, The Biochemical journal.

Structural analysis of human adult and fetal alkaline phosphatases by cyanogen bromide peptide mapping.

J. Vockley, C. Foster, H. Harris, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Purification of monoclonal antibodies to human alkaline phosphatases by antigen-immunoaffinity chromatography: comparisons of their molar binding values.

J. Vockley, H. Harris, K. Bednarz, 1984, Journal of immunological methods.

Cloning and characterization of the human type II arginase gene.

J. Vockley, W. Grody, S. Cederbaum, 1996, Genomics.

New observations on maternal age effect on germline de novo mutations

J. Vockley, G. Eley, D. Bodian, 2016, Nature Communications.

Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer

Roland L. Dunbrack, J. Vockley, Yan Zhou, 2015, Oncotarget.

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

J. Vockley, Yan Zhou, B. Egleston, 2015, Gastroenterology.

Mutations in NOTCH1 cause Adams-Oliver syndrome.

J. Roach, J. Vockley, D. Bodian, 2014, American journal of human genetics.

Identification of differentially expressed genes in hepatocellular carcinoma and metastatic liver tumors by oligonucleotide expression profiling

U. Scherf, J. Vockley, J G Vockley, 2001, Cancer.

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Jared C. Roach, Gustavo Glusman, Max Robinson, 2015, Front. Genet..

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

J. Vockley, L. Wolfe, Kathi Huddleston, 2016, Brain : a journal of neurology.

The human arginases and arginase deficiency

J. Vockley, W. Grody, S. Cederbaum, 1998, Journal of Inherited Metabolic Disease.

Efficient and gentle siRNA delivery by magnetofection

J. Vockley, D. Hartl, R. Ensenauer, 2011, Biotechnic & histochemistry : official publication of the Biological Stain Commission.

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

J. Vockley, D. Bodian, R. Iyer, 2015, Molecular Syndromology.

Functional and molecular analysis of liver arginase promoter sequences from man andMacaca fascicularis

J. Vockley, D. Tabor, W. Grody, 1994 .

Characterization of de novo Mutations in the Human Germline

J. Roach, L. Vissers, A. Hoischen, 2019 .

Loss of function mutations in conserved regions of the human arginase I gene.

J. Vockley, D. Tabor, W. Grody, 1996, Biochemical and molecular medicine.