Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes
This study introduces the 9P-ARCH research network that is actively pursuing genomic, phenotypic, and functional aspects of 9p-related syndromes. We advanced the study of 9p-related syndromes both at the individual level and across the cohort through the largest, most comprehensive genomic analysis of 9p-related syndromes to date.
Authors
- Lucinda Antonacci-Fulton
- Christopher M. Grochowski (ORCID: https://orcid.org/0000-0002-3884-7720)
- Jennifer E. Posey (ORCID: https://orcid.org/0000-0003-4814-6765)
- Jeffrey Milbrandt (ORCID: https://orcid.org/0000-0002-5477-7689)
- Victoria Tate
- Erik G. Puffenberger (ORCID: https://orcid.org/0000-0002-6388-9148)
- F. Sessions Cole (ORCID: https://orcid.org/0000-0002-3797-9369)
- Patricia Dickson (ORCID: https://orcid.org/0000-0003-3467-8488)
- Zain Dardas (ORCID: https://orcid.org/0000-0003-2387-3122)
- Julie Neidich (ORCID: https://orcid.org/0000-0003-0962-1957)
- Xiaoxia Cui (ORCID: https://orcid.org/0000-0002-3073-7332)
- Ying‐Chen Claire Hou (ORCID: https://orcid.org/0000-0001-7114-6742)
- Jeffrey K. Ng
- Amjad Horani (ORCID: https://orcid.org/0000-0002-5352-1948)
- Yang Cao (ORCID: https://orcid.org/0000-0002-2499-3567)
- Toni M. Sinnwell
- Amber Neilson
- Harsha Gowda (ORCID: https://orcid.org/0000-0002-1340-8203)
- Rodrigo Tzovenos Starosta (ORCID: https://orcid.org/0000-0002-2350-7192)
- Elizabeth L. Appelbaum
- Dale Annear (ORCID: https://orcid.org/0000-0003-0346-7063)
- Matthew W. Mitchell (ORCID: https://orcid.org/0000-0002-6947-0495)
- Katherine N. Lyons
- Katherine A. King
- Laura B. Metz
- Michael Heinz
- Eleanor I. Sams
- Nick Sisneros
- Titilope M. Akinwe (ORCID: https://orcid.org/0000-0002-9406-7497)
- Jill Anne Rosenfeld (ORCID: https://orcid.org/0000-0001-5664-7987)
- Christopher E. Pearson (ORCID: https://orcid.org/0000-0001-9545-4205)
- A. Micheil Innes (ORCID: https://orcid.org/0000-0001-9881-5467)
- Milinn Kremitzki (ORCID: https://orcid.org/0000-0001-7980-3153)
- Megha Muraleedharan
- Christopher Markovic
- Hsiao‐Tuan Chao (ORCID: https://orcid.org/0000-0002-2854-5470)
- Yang Eric Li (ORCID: https://orcid.org/0000-0001-6997-6018)
- Tychele N. Turner
- K.H. Wang
- R. Frank Kooy (ORCID: https://orcid.org/0000-0003-2024-0485)
- Reza Ghasemi (ORCID: https://orcid.org/0000-0002-9704-9753)
- Paweł Stankiewicz (ORCID: https://orcid.org/0000-0002-6456-7490)
- Nathaniel Jensen
- Sandra Crocker
- Khadija Belhassan (ORCID: https://orcid.org/0000-0002-8562-0246)
- Robert E. Fulton
- Susan K. Dutcher (ORCID: https://orcid.org/0000-0001-5689-5753)
- Marco Corbo (ORCID: https://orcid.org/0000-0002-4566-2724)
- Rachel Slaugh (ORCID: https://orcid.org/0000-0002-5742-9153)
- Catherine Gooch (ORCID: https://orcid.org/0000-0002-0919-7933)
- Christina A. Gurnett (ORCID: https://orcid.org/0000-0001-9129-315X)
- Robi D. Mitra (ORCID: https://orcid.org/0000-0002-2680-4264)
- Weimin Bi (ORCID: https://orcid.org/0000-0002-1330-7031)
- Sophia Couteranis
- Kostandin Valle
- Yu Liu (ORCID: https://orcid.org/0009-0007-6599-5685)
- Juana Manuel (ORCID: https://orcid.org/0009-0000-0023-1245)
- Kevin A. Peterson (ORCID: https://orcid.org/0000-0001-8353-3694)
- Richard D. Head (ORCID: https://orcid.org/0000-0002-6865-1542)
- Tina Lindsay
- S. Tracy
- Tracie DeLuca
- Stephan Toutain
- Yingxi Wang
- Emily Cordova Hurtado
- Jack Ustanik
- Thomas Antonacci
- Andrew Emory
- Brianne Thomeczek
- Anantha Kethireddy
Institutions
- James S. McDonnell Foundation (US)
- Clinic for Special Children (US)
- University of Antwerp (BE)
- University of Calgary (CA)
- Illumina (United States) (US)
- Baylor College of Medicine (US)
- Washington University in St. Louis (US)
- Hospital for Sick Children (CA)
- Coriell Institute For Medical Research (US)
- Alberta Children's Hospital (CA)
- NeuroMedical Center (US)
- Robert and Janice McNair Foundation (US)
- Jackson Laboratory (US)
- Neurological Research Institute (US)
- SciGenom Labs (India) (IN)
- Baylor Genetics (US)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1186/s13073-025-01563-0
- Citations
- 2
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Washington University in St. Louis
- National Institutes of Health