The paper evaluates two self-phenotyping tools, showing that GenomeConnect provides more accurate phenotype profiles while Phenotypr offers greater precision and user preference for its autocomplete format.

EBioMedicine · Oct 30, 2025Peer-reviewedGenetic & Genomic Medicine

Anti-Parkinsonian Drugs Rescue Locomotor Deficits in JIP3 Knockout Zebrafish: Implications for Treating Patients with MAPK8IP3-related Neurodevelopmental Disorders

Aleksandra Foksinska, Jaclyn Paige Souder, Gabrielle Smith, Kinnsley Travis, Sienna Rucka, Addie Allred, Rebeca Bender, Jackie Brunson, Avary Lanier, Amber Glaze, Andrew B. Crouse, Matthew Might, Camerron M. Crowder

The paper identifies amantadine and levodopa as potential therapies for JIP3-related neurodevelopmental disorders using zebrafish models and AI-assisted drug screening.

bioRxiv · Feb 2, 2025 · PreprintNeuroscience

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth S Baynam, David R. Bearden, Ana Beleza‐Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frédéric Bilan, Laurence Albert Bindoff, , Davor Lessel

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

Genome Medicine · May 21, 2021Peer-reviewedGenetic & Genomic Medicine

Structured Reviews for Data and Knowledge Driven Research

Núria Queralt-Rosiñach, Gregory S. Stupp, Tong Shu Li, Michael Mayers, Maureen E. Hoatlin, Matthew Might, Benjamin M. Good, Andrew I. Su

The paper presents a structured review of NGLY1 Deficiency as a knowledge graph, improving hypothesis generation through FAIR principles and enabling collaborative curation.

Database · Jan 1, 2020Peer-reviewedBioinformatics