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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.American Journal of Human Genetics|December 25, 2019
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart DefectsYingjie Zhao, Alexander Diacou, H Richard Johnston, et al.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.Molecular Psychiatry|June 14, 2018
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion sizeDaqiang Sun, Christopher R K Ching, Amy Lin, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 15, 2025
Twelve-Month Results From the CISTO Study Comparing Radical Cystectomy Versus Bladder-Sparing Therapy for Recurrent High-Grade Non-Muscle-Invasive Bladder CancerJohn L Gore, Erika M Wolff, Michael G Nash, et al.Molecular Psychiatry|July 31, 2019
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging studyJulio E Villalón-Reina, Kenia Martínez, Xiaoping Qu, 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.Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
The Hidden Architecture of Brain Structural Variability in 22q11.2 Deletion Syndrome: A Multi-site StudyRune Boen, Kathleen P O'Hora, Hoki Fung, et al.Molecular Psychiatry|February 5, 2020
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionIsabelle Cleynen, Worrawat Engchuan, Matthew S Hestand, et al.Pageof 19