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Human Brain Mapping|January 15, 2024
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndromeRuiyang Ge, Christopher R K Ching, Anne S Bassett, et al.
Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
NPJ Genomic Medicine|July 18, 2023
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DSYingjie Zhao, Yujue Wang, Lijie Shi, et al.
Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
American Journal of Obstetrics and Gynecology|September 17, 2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of ageLindsay R Freud, Stephanie Galloway, T Blaine Crowley, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndromeJhih-Rong Lin, Daniella Miller, Dana Luong, et al.
The American Journal of Psychiatry|February 13, 2020
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric IllnessChristopher R K Ching, Boris A Gutman, Daqiang Sun, et al.
Research Square|January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesisMansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
Journal of the American Heart Association|August 29, 2024
Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 ParticipantsWilliam J Young, Peter J van der Most, Traci M Bartz, et al.
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