Publications by authors named "Justin Paschall"

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Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.
Kelsey R Robinson, Sarah W Curtis, Justin E Paschall, Wasiu Lanre Adeyemo, Terri H Beaty

Am J Hum Genet· November 2025

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Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.
Kelsey R Robinson, Sarah W Curtis, Justin E Paschall, Terri H Beaty, Azeez Butali

medRxiv· March 2025

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XY sex determination in a cnidarian.
Ruoxu Chen, Steven M Sanders, Zhiwei Ma, Justin Paschall, E Sally Chang

BMC Biol· February 2023

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Genotype first: Clinical genomics research through a reverse phenotyping approach.
Caralynn M Wilczewski, Justice Obasohan, Justin E Paschall, Suiyuan Zhang, Sumeeta Singh

Am J Hum Genet· January 2023

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HLA-associated outcomes in peanut oral immunotherapy trials identify mechanistic and clinical determinants of therapeutic success.
Kanika Kanchan, Gautam Shankar, Michelle F Huffaker, Henry T Bahnson, R Sharon Chinthrajah, Justin E Paschall

Front Immunol· December 2022

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A Chromosome-Length Assembly of the Hawaiian Monk Seal (): A History of "Genetic Purging" and Genomic Stability.
David W Mohr, Stephen J Gaughran, Justin Paschall, Ahmed Naguib, Andy Wing Chun Pang

Genes (Basel)· July 2022

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Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.
Cristina M Justice, Anthony M Musolf, Araceli Cuellar, Wanda Lattanzi, Emil Simeonov, Justin Paschall

Genes (Basel)· May 2022

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Mango: Exploratory Data Analysis for Large-Scale Sequencing Datasets.
Alyssa Kramer Morrow, George Zhixuan He, Frank Austin Nothaft, Eric Tongching Tu, Justin Paschall

Cell Syst· December 2019

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Tools for annotation and comparison of structural variation.
Fritz J Sedlazeck, Andi Dhroso, Dale L Bodian, Justin Paschall, Farrah Hermes

F1000Res· October 2017

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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Kym M Boycott, Ana Rath, Jessica X Chong, Taila Hartley, Fowzan S Alkuraya, Justin Paschall

Am J Hum Genet· May 2017

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Discovering and linking public omics data sets using the Omics Discovery Index.
Yasset Perez-Riverol, Mingze Bai, Felipe da Veiga Leprevost, Silvano Squizzato, Young Mi Park, Justin Paschall

Nat Biotechnol· May 2017

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Open Targets: a platform for therapeutic target identification and validation.
Gautier Koscielny, Peter An, Denise Carvalho-Silva, Jennifer A Cham, Luca Fumis, Justin Paschall

Nucleic Acids Res· January 2017

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The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Justin Paschall

Hum Mutat· October 2015

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The European Genome-phenome Archive of human data consented for biomedical research.
Ilkka Lappalainen, Jeff Almeida-King, Vasudev Kumanduri, Alexander Senf, John Dylan Spalding, Justin Paschall

Nat Genet· July 2015

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RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
Rachel Thompson, Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, Justin E Paschall

J Gen Intern Med· August 2014

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DbVar and DGVa: public archives for genomic structural variation.
Ilkka Lappalainen, John Lopez, Lisa Skipper, Timothy Hefferon, J Dylan Spalding, Justin Paschall

Nucleic Acids Res· January 2013

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Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality.
Rebecca L Zuvich, Loren L Armstrong, Suzette J Bielinski, Yuki Bradford, Christopher S Carlson, Justin E Paschall

Genet Epidemiol· December 2011

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke

Genet Med· September 2011

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Assessing and managing risk when sharing aggregate genetic variant data.
David W Craig, Robert M Goor, Zhenyuan Wang, Justin Paschall, Jim Ostell

Nat Rev Genet· September 2011

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Quality control procedures for genome-wide association studies.
Stephen Turner, Loren L Armstrong, Yuki Bradford, Christopher S Carlson, Dana C Crawford, Justin E Paschall

Curr Protoc Hum Genet· January 2011

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Public data archives for genomic structural variation.
Deanna M Church, Ilkka Lappalainen, Tam P Sneddon, Jonathan Hinton, Michael Maguire, Justin Paschall

Nat Genet· October 2010

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Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
Taye H Hamza, Cyrus P Zabetian, Albert Tenesa, Alain Laederach, Jennifer Montimurro, Justin Paschall

Nat Genet· September 2010

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Quality control and quality assurance in genotypic data for genome-wide association studies.
Cathy C Laurie, Kimberly F Doheny, Daniel B Mirel, Elizabeth W Pugh, Laura J Bierut, Justin Paschall

Genet Epidemiol· September 2010

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The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.
Marilyn C Cornelis, Arpana Agrawal, John W Cole, Nadia N Hansel, Kathleen C Barnes, Justin Paschall

Genet Epidemiol· May 2010

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Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women.
Daniel L Koller, Shoji Ichikawa, Dongbing Lai, Leah R Padgett, Kimberly F Doheny, Justin Paschall

J Clin Endocrinol Metab· April 2010

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