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Cytogenetic and Genome Research|April 8, 2016
Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal ParentsWolfram Demaerel, Majid Hosseinzadeh, Nayereh Nouri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2019
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive conditionMarta Unolt, Molka Kammoun, Beata Nowakowska, et al.
American Journal of Human Genetics|October 3, 2017
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic RearrangementsWolfram Demaerel, Matthew S Hestand, Elfi Vergaelen, et al.
Genome Research|September 5, 2019
The 22q11 low copy repeats are characterized by unprecedented size and structural variabilityWolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, et al.
Human Molecular Genetics|December 30, 2019
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic originsLisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, 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.
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.
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