ArticlemedRxiv : the preprint server for health sciences2025
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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71 authors.
Yingxi WangDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Eleanor I SamsDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Rachel SlaughEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Sandra CrockerDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Emily Cordova HurtadoDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Sophia TracyEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Ying-Chen Claire HouDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Christopher MarkovicMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Kostandin ValleDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Victoria TateEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Khadija BelhassanDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Elizabeth AppelbaumMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Titilope AkinweDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Rodrigo Starosta TzovenosEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Yang CaoDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Amber NeilsonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Yu LiuDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Nathaniel JensenEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Reza GhasemiDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Tina LindsayMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Juana ManuelDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Sophia CouteranisEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Milinn KremitzkiMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Jack UstanikDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Thomas AntonacciMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Jeffrey K NgDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Andrew EmoryMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Laura MetzDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Tracie DeLucaMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Katherine N LyonsDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Toni SinnwellMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Brianne ThomeczekMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Kymme WangIllumina, San Diego, CA 92122, USA.
Nick SisnerosMedgenome Laboratory, Foster City, CA 94404, USA.
Megha MuraleedharanMedgenome Laboratory, Foster City, CA 94404, USA.
Anantha KethireddyMedgenome Laboratory, Foster City, CA 94404, USA.
Marco CorboMedgenome Laboratory, Foster City, CA 94404, USA.
Harsha GowdaMedgenome Laboratory, Foster City, CA 94404, USA.
Katherine KingEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Christina A GurnettDepartment of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Susan K DutcherDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Catherine GoochEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Yang E LiDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Matthew W MitchellCoriell Institute for Medical Research, Camden, NJ 08103, USA.
Kevin A PetersonThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Amjad HoraniEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Weimin BiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pawel StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hsiao-Tuan ChaoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jennifer PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Christopher M GrochowskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zain DardasDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Erik PuffenbergerClinic for Special Children, Gordonville, PA 17529, USA.
Christopher E PearsonThe Hospital for Sick Children, Genetics & Genome Biology, Toronto, Ontario, Canada.
Frank KooyDepartment of Medical Genetics, University of Antwerp, Edegem, Belgium.
Dale AnnearDepartment of Medical Genetics, University of Antwerp, Edegem, Belgium.
A Micheil InnesDepartments of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Michael HeinzMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Richard HeadMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Robert FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Stephan ToutainChromosome 9P Minus Network, Baton Rouge, LA 70895, USA.
9P-ARCH
Lucinda Antonacci-FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Xiaoxia CuiMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.
Robi D MitraDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
F Sessions ColeEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Julie NeidichDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Patricia I DicksonEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Jeffrey MilbrandtDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Tychele N TurnerDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0001-8246-6477
Funding
New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6MWUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JEFFREY D MILBRANDT · 2020 to 2026
$15.5MCenter for Human Genome Reference DiversityUM1HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Robert Mullan Cook-Deegan, Evan Eichler · 2024 to 2026
$8.6MNoncoding mutations in neurodevelopmental disordersR01MH126933 · NIMH · WASHINGTON UNIVERSITY · PI Tychele Naomi Turner · 2022 to 2026
$3.6MNature and contribution of noncoding, regulatory mutations in neurodevelopmental disordersR00MH117165 · NIMH · WASHINGTON UNIVERSITY · PI TURNER, TYCHELE NAOMI · 2019 to 2021
$743kA Comprehensive De Novo Variant Callset for the Gabriella Miller Kids First Pediatric Research Program Birth Defect DataR03HD116062 · NICHD · WASHINGTON UNIVERSITY · PI TURNER, TYCHELE NAOMI · 2024 to 2024
$311kNHGRI NIH HHS UM1 HG008901NHGRI NIH HHS UM1 HG010971NICHD NIH HHS P50 HD103525NICHD NIH HHS R03 HD116062NIMH NIH HHS R00 MH117165NIMH NIH HHS R01 MH126933
Abstract
Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, chromosome microarrays). We present the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with 9p-related syndromes including 85 unrelated probands through the 9P-ARCH (
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.