J. Paschall

发表

Highly sensitive and ultrafast read mapping for RNA-seq analysis

E. S. Quintana-Ortí, E. S. Quintana‐Ortí, J. Dopazo, 2016, DNA research : an international journal for rapid publication of reports on genes and genomes.

The NCBI dbGaP database of genotypes and phenotypes

K. Sirotkin, S. Sherry, J. Ostell, 2007, Nature Genetics.

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Orion J. Buske, Danielle R Azzariti, G. J. Swaminathan, 2015, Human mutation.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Peter N. Robinson, A. Philippakis, M. Hurles, 2017, American journal of human genetics.

Quality Control Procedures for Genome‐Wide Association Studies

Rongling Li, Stephen Turner, Lan Jiang, 2011, Current protocols in human genetics.

Assessing and managing risk when sharing aggregate genetic variant data

Robert M. Goor, S. Sherry, J. Ostell, 2011, Nature Reviews Genetics.

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

P. Robinson, I. Gut, K. Zatloukal, 2014, Journal of General Internal Medicine.

Distributed visualization for genomic analysis

Frank A. Nothaft, D. Patterson, A. Joseph, 2016 .

Genome-wide association study of bipolar disorder in European American and African American individuals

John P. Rice, Daniel L. Koller, F. McMahon, 2009, Molecular Psychiatry.

FunnyBase: a systems level functional annotation of Fundulus ESTs for the analysis of gene expression

Gerald J. Wyckoff, D. Crawford, J. Paschall, 2004, BMC Genomics.

The European Genome-phenome Archive of human data consented for biomedical research

Arcadi Navarro, Ignacio Medina, Thomas Laurent, 2015, Nature Genetics.

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Swaroop Aradhya, Michael R Rossi, Vineith Kaul, 2011, Genetics in Medicine.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

Omics Discovery Index - Discovering and Linking Public ‘Omics’ Datasets

Christoph Steinbeck, Yasset Perez-Riverol, Juan Antonio Vizcaíno, 2016, bioRxiv.

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

Alexander F. Wilson, A. F. Wilson, R. Kaneva, 2022, Genes.

A Chromosome-Length Assembly of the Hawaiian Monk Seal (Neomonachus schauinslandi): A History of “Genetic Purging” and Genomic Stability

Erez Lieberman Aiden, A. Pang, D. Church, 2022, Genes.

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Matti Pirinen, Christian Gieger, Peter Donnelly, 2012 .

Quality control and quality assurance in genotypic data for genome‐wide association studies

Peter Kraft, Thomas Lumley, Maria Teresa Landi, 2010, Genetic epidemiology.

CrossSearch, a User-friendly Search Engine for Detecting Chemically Cross-linked Peptides in Conjugated Proteins*S

Gerald J Wyckoff, Gerald J. Wyckoff, J. Paschall, 2008, Molecular & Cellular Proteomics.

Evidence for the location of the allosteric activation switch in the multisubunit phosphorylase kinase complex from mass spectrometric identification of chemically crosslinked peptides.

Qing Yang, Gerald J Wyckoff, Gerald J. Wyckoff, 2007, Journal of molecular biology.

Open Targets: a platform for therapeutic target identification and validation

Gautier Koscielny, Robert Petryszak, Maria Keays, 2016, Nucleic Acids Res..

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease

J. Nutt, W. Scott, K. Doheny, 2010, Nature Genetics.

dbVar and DGVa: public archives for genomic structural variation

Chao Chen, Deanna M. Church, Paul Flicek, 2012, Nucleic Acids Res..

Public data archives for genomic structural variation

Michael DiCuccio, Paul Flicek, Ilkka Lappalainen, 2010, Nature Genetics.

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

Gabriele, D. Church, W. Sanger, 2022 .

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

HLA-associated outcomes in peanut oral immunotherapy trials identify mechanistic and clinical determinants of therapeutic success

G. Toit, I. Ruczinski, J. Paschall, 2022, Frontiers in Immunology.

Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women.

Leah R. Padgett, Daniel L. Koller, K. Doheny, 2010, The Journal of clinical endocrinology and metabolism.

Tools for annotation and comparison of structural variation

Justin M Zook, Fritz J Sedlazeck, Andi Dhroso, 2017, F1000Research.

The gene, environment association studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions

Eric Boerwinkle, Eleanor Feingold, Myriam Fornage, 2010, Genetic epidemiology.

Discovering and linking public omics data sets using the Omics Discovery Index

Robert Petryszak, Christoph Steinbeck, Yasset Perez-Riverol, 2017, Nature Biotechnology.

Artificial neural networks for linkage analysis of quantitative gene expression phenotypes and evaluation of gene × gene interactions

J. Paschall, N. Saccone, Y. Liu, 2007, BMC proceedings.

SPEED: a molecular-evolution-based database of mammalian orthologous groups

Bruce T. Lahn, Eric J. Vallender, Justin E. Paschall, 2006, Bioinform..

XY sex determination in a cnidarian

J. Paschall, A. Baxevanis, C. Schnitzler, 2022, bioRxiv.

Explorer Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson ' s disease

J. Nutt, W. Scott, K. Doheny, 2017 .

A chromosome-length assembly of the Hawaiian Monk seal (Neomonarchus schauinslandi) confirms genomic stability in the Pinnipeds and a prolonged history of “genetic purging”

Erez Lieberman Aiden, Andy Wing Chun Pang, D. Church, 2022, bioRxiv.

Mango: Distributed Visualization for Genomic Analysis

Anthony D. Joseph, Nir Yosef, Alyssa Morrow, 2018, bioRxiv.

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

Dana C Crawford, Yuki Bradford, Mariza de Andrade, 2011, Genetic epidemiology.

Genotype first: Clinical genomics research through a reverse phenotyping approach.

T. Wolfsberg, L. Biesecker, J. Paschall, 2023, American journal of human genetics.

Assessing and managing risk when sharing aggregate genetic variant data

Stephen T. Sherry, Teri A. Manolio, Michael Feolo, 2011, Nature Reviews Genetics.

Discovering and linking public omics data sets using the Omics Discovery Index

Adam J Carroll, A. Nesvizhskii, H. Hermjakob, 2017, Nature Biotechnology.

Assessing and managing risk when sharing aggregate genetic variant data

Robert M. Goor, S. Sherry, J. Ostell, 2011, Nature Reviews Genetics.

Mango: Exploratory Data Analysis for Large-Scale Sequencing Datasets.

Nir Yosef, Frank Austin Nothaft, Justin Paschall, 2019, Cell systems.