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Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
Circulation. Cardiovascular Genetics|October 14, 2017
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
American Journal of Human Genetics|March 5, 2013
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromesMaria Delio, Tingwei Guo, Donna M McDonald-McGinn, 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.
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.
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.
Journal of Medical Genetics|August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literatureFrancesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
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