Author

Justin E. Paschall

Johns Hopkins University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetics· 2 Genomics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 4 Organism:human· 4 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Assay:long-read sequencing· 2 Research Focus:software / tool· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1

Frequent Co-Authors

David W. MohriD· 2 shared A. Pionzio· 1 shared Adam M. PhillippyiD· 1 shared Adriana P. RebeloiD· 1 shared Ahmed Naguib· 1 shared Alan F. ScottiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Allison N. RozanskiiD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

David W. MohrORCID

Mutual co-authors in cluster

Author profile →

6 papers

Recent·Most cited

Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes

Arang Rhie, Juhyun Kim, Francisco Rodríguez-Algarra, Steven J. Solar, Sergey Koren, Dmitry Antipov, Caralynn M. Wilczewski, George L. Maxwell, Jennifer L. Gerton, Justin E. Paschall, Tamara Potapova, Tyra G. Wolfsberg, Sumeeta Singh, Sandra del Castillo, Clesson Turner, , Adam M. Phillippy

Short-read genomes can flag Robertsonian translocation carriers by counting rDNA distal junction (DJ) copies (8 rather than 10); UK Biobank screening found 583 candidates, 1 in 841.

bioRxiv · Oct 13, 2026 · PreprintGenomics✦ In-depth digest

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, Carmen J. Buxó, David J. Cutler, Michael P. Epstein, Jacqueline T. Hecht, Lina M. Moreno Uribe, Gary Michael Shaw, Jeffrey Clark Murray, Harrison Brand, Seth Michael Weinberg, Mary L. Marazita, , Elizabeth J. Leslie

The paper identifies protein-altering de novo variants in CP probands, finding higher enrichment in syndromic cases and distinct biological enrichments in single-cell RNA sequencing datasets.

medRxiv · Mar 3, 2025 · PreprintGenetic & Genomic Medicine

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac R. L. Xu, Marie‐Josée Dicaire, Guinevere Spurdens, Gabriel E. Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana P. Rebelo, Virginie Roth, Marion Wandzel, , Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

Nature Genetics · Jun 27, 2024Peer-reviewedGenetics

XY sex determination in a cnidarian

Ruoxu Chen, Steven M. Sanders, Zhiwei Ma, Justin E. Paschall, E. Sally Chang, Brooke M. Riscoe, Christine E. Schnitzler, Andreas D. Baxevanis, Matthew L. Nicotra

This study identifies an XX/XY sex determination system in the cnidarian Hydractinia symbiolongicarpus, establishing it as a model for studying sex determination in non-bilaterian animals.

BMC Biology · Feb 13, 2023Peer-reviewedGenetics

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

David W. Mohr, Stephen J. Gaughran, Justin E. Paschall, Ahmed Naguib, Andy Wing Chun Pang, Olga Dudchenko, Erez Lieberman Aiden, Deanna M. Church, Alan F. Scott

The paper presents a chromosome-length assembly of the Hawaiian monk seal, revealing genomic stability and low variation, with implications for conservation and evolutionary studies.

bioRxiv · Mar 31, 2022 · PreprintGenomics

Mango: Distributed Visualization for Genomic Analysis

Alyssa Morrow, George Zhixuan He, Frank Austin Nothaft, Eric Tongching Tu, Justin E. Paschall, Nir Yosef, Anthony D. Joseph

Mango enables interactive genomic analysis of large sequencing datasets by leveraging cloud-based multi-node clusters, overcoming scalability and staticity limitations of existing tools.

bioRxiv · Jul 3, 2018 · PreprintBioinformatics