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Author Details

Justin Paschall
National Human Genome Research Institute, National Institutes of Health
2004
30
20
PMIDPaper TitleJournal TitlePublished Year
36608682Genotype first: Clinical genomics research through a reverse phenotyping approach.Am J Hum Genet2023
36608682Genotype first: Clinical genomics research through a reverse phenotyping approach.Am J Hum Genet2023
36782149XY sex determination in a cnidarian.BMC Biol2023
36782149XY sex determination in a cnidarian.BMC Biol2023
35886053A Chromosome-Length Assembly of the Hawaiian Monk Seal (<i>Neomonachus schauinslandi</i>): A History of "Genetic Purging" and Genomic Stability.Genes (Basel)2022
35886053A Chromosome-Length Assembly of the Hawaiian Monk Seal (<i>Neomonachus schauinslandi</i>): A History of "Genetic Purging" and Genomic Stability.Genes (Basel)2022
35627201Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.Genes (Basel)2022
36466872HLA-associated outcomes in peanut oral immunotherapy trials identify mechanistic and clinical determinants of therapeutic success.Front Immunol2022
35627201Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.Genes (Basel)2022
36466872HLA-associated outcomes in peanut oral immunotherapy trials identify mechanistic and clinical determinants of therapeutic success.Front Immunol2022
31812694Mango: Exploratory Data Analysis for Large-Scale Sequencing Datasets.Cell Syst2019
31812694Mango: Exploratory Data Analysis for Large-Scale Sequencing Datasets.Cell Syst2019
27899665Open Targets: a platform for therapeutic target identification and validation.Nucleic Acids Res2017
28486464Discovering and linking public omics data sets using the Omics Discovery Index.Nat Biotechnol2017
28475856International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet2017
29123647Tools for annotation and comparison of structural variation.F1000Res2017
27899665Open Targets: a platform for therapeutic target identification and validation.Nucleic Acids Res2017
28486464Discovering and linking public omics data sets using the Omics Discovery Index.Nat Biotechnol2017
28475856International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet2017
29123647Tools for annotation and comparison of structural variation.F1000Res2017
26740642Highly sensitive and ultrafast read mapping for RNA-seq analysis.DNA Res2016
26740642Highly sensitive and ultrafast read mapping for RNA-seq analysis.DNA Res2016
26111507The European Genome-phenome Archive of human data consented for biomedical research.Nat Genet2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
26111507The European Genome-phenome Archive of human data consented for biomedical research.Nat Genet2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
25029978RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.J Gen Intern Med2014
25029978RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.J Gen Intern Med2014
23193291DbVar and DGVa: public archives for genomic structural variation.Nucleic Acids Res2013
23193291DbVar and DGVa: public archives for genomic structural variation.Nucleic Acids Res2013
21234875Quality control procedures for genome-wide association studies.Curr Protoc Hum Genet2011
21234875Quality control procedures for genome-wide association studies.Curr Protoc Hum Genet2011
21921928Assessing and managing risk when sharing aggregate genetic variant data.Nat Rev Genet2011
21844811An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Genet Med2011
22125226Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality.Genet Epidemiol2011
22125226Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality.Genet Epidemiol2011
21844811An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Genet Med2011
21921928Assessing and managing risk when sharing aggregate genetic variant data.Nat Rev Genet2011
20091798The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.Genet Epidemiol2010
20877315Public data archives for genomic structural variation.Nat Genet2010
20718045Quality control and quality assurance in genotypic data for genome-wide association studies.Genet Epidemiol2010
20711177Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.Nat Genet2010
20164292Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women.J Clin Endocrinol Metab2010
20091798The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.Genet Epidemiol2010
20718045Quality control and quality assurance in genotypic data for genome-wide association studies.Genet Epidemiol2010
20711177Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.Nat Genet2010
20877315Public data archives for genomic structural variation.Nat Genet2010
20164292Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women.J Clin Endocrinol Metab2010
18281724CrossSearch, a user-friendly search engine for detecting chemically cross-linked peptides in conjugated proteins.Mol Cell Proteomics2008
18281724CrossSearch, a user-friendly search engine for detecting chemically cross-linked peptides in conjugated proteins.Mol Cell Proteomics2008
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Collaborators

Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 6
Teri A Manolio
National Human Genome Research Institute
Co-authored papers 5
Deanna M Church
Present address: Inscripta Inc.
Co-authored papers 4
Hua Ling
Chongqing Center for Disease Control and Prevention.
Co-authored papers 4
Daniel B Mirel
Broad Institute of Harvard and MIT
Co-authored papers 4
Ilkka Lappalainen
European Bioinformatics Institute
Co-authored papers 3
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Paul Flicek
European Bioinformatics Institute
Co-authored papers 3
John D Spalding
European Bioinformatics Institute
Co-authored papers 3
Monique Hayes
Feinberg School of Medicine, Northwestern University
Co-authored papers 3
Johan T den Dunnen
Leiden University Medical Center
Co-authored papers 2
Stephen T Sherry
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 2
Andrew Crenshaw
Broad Institute
Co-authored papers 2
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 2
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 2
Rebecca L Zuvich
Center for Human Genetics Research, Vanderbilt University School of Medicine
Co-authored papers 2
Gary Saunders
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 2
Stephen D Turner
Co-authored papers 2
Iftikhar J Kullo
Mayo Clinic
Co-authored papers 2
Mariza de Andrade
Mayo Clinic
Co-authored papers 2
Marilyn C Cornelis
Co-authored papers 2
Ignacio Medina
Co-authored papers 2
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 2
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 2
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 2
Michael Feolo
University of Massachusetts Medical School
Co-authored papers 2
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 2
Howard J Edenberg
Indiana University School of Medicine
Co-authored papers 2
John P Rice
Washington University School of Medicine
Co-authored papers 2
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 2
Release 1.2