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Plos Computational Biology|November 11, 2021
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing dataLarry N Singh, Brian Ennis, Bryn Loneragan, et al.
Genes|March 29, 2023
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion SyndromeMarta Smyk, Maciej Geremek, Kamila Ziemkiewicz, et al.
Clinical Genetics|December 8, 2025
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 DeletionsTanner J Nelson, Daniel E McGinn, T Blaine Crowley, et al.
Nature Communications|December 5, 2024
Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndromeTae-Yeon Eom, J Eric Schmitt, Yiran Li, et al.
Schizophrenia Research|August 11, 2018
Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndromeMaria Niarchou, Samuel J R A Chawner, Ania Fiksinski, et al.
Molecular Psychiatry|March 3, 2023
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophreniaJhih-Rong Lin, Yingjie Zhao, M Reza Jabalameli, et al.
Nature Cell Biology|June 16, 2025
ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndromeThomas L Clarke, Hyo Min Cho, Ilaria Ceppi, et al.
Human Molecular Genetics|January 24, 2018
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2Tingwei Guo, Alexander Diacou, Hiroko Nomaru, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
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