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

Institutions

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

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Lucinda Antonacci-Fulton, Christopher M. Grochowski, Jennifer E. Posey, Jeffrey Milbrandt et al.
2 citations
Genome Medicine
Genomic variations and chromosomal abnormalities
3.63
article

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Lucinda Antonacci-Fulton, Christopher M. Grochowski, Jennifer E. Posey, Jeffrey Milbrandt, Victoria Tate, Erik G. Puffenberger, F. Sessions Cole, Patricia Dickson, Zain Dardas, Julie Neidich, Xiaoxia Cui, Ying‐Chen Claire Hou, Jeffrey K. Ng, Amjad Horani, Yang Cao, Toni M. Sinnwell, Amber Neilson, Harsha Gowda, Rodrigo Tzovenos Starosta, Elizabeth L. Appelbaum, Dale Annear, Matthew W. Mitchell, Katherine N. Lyons, Katherine A. King, Laura B. Metz, Michael Heinz, Eleanor I. Sams, Nick Sisneros, Titilope M. Akinwe, Jill Anne Rosenfeld, Christopher E. Pearson, A. Micheil Innes, Milinn Kremitzki, Megha Muraleedharan, Christopher Markovic, Hsiao‐Tuan Chao, Yang Eric Li, Tychele N. Turner, K.H. Wang, R. Frank Kooy, Reza Ghasemi, Paweł Stankiewicz, Nathaniel Jensen, Sandra Crocker, Khadija Belhassan, Robert E. Fulton, Susan K. Dutcher, Marco Corbo, Rachel Slaugh, Catherine Gooch, Christina A. Gurnett, Robi D. Mitra, Weimin Bi, Sophia Couteranis, Kostandin Valle, Yu Liu, Juana Manuel, Kevin A. Peterson, Richard D. Head, Tina Lindsay, S. Tracy, Tracie DeLuca, Stephan Toutain, Yingxi Wang, Emily Cordova Hurtado, Jack Ustanik, Thomas Antonacci, Andrew Emory, Brianne Thomeczek, Anantha Kethireddy
article en
2 citations

Abstract

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.

Genome MedicineVol. 17(1)
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)
Washington University in St. Louis, National Institutes of Health
Openalex Percentile: Top 6%
Genomic variations and chromosomal abnormalities
3.63
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.