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- Classification of uniparental isodisomy patterns that cause autosomal recessive disorders: proposed mechanisms of different proportions and parental origin in each pattern.Cytogenet Genome Res. 2018; 154: 137-146https://doi.org/10.1159/000488572
- A fascination with chromosome rescue in uniparental disomy: mendelian recessive outlaws and imprinting copyrights infringements.Eur J Hum Genet. 2006; 14: 1158-1169https://doi.org/10.1038/sj.ejhg.5201619
- Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome.J Invest Dermatol. 2014; 134: 849-852https://doi.org/10.1038/jid.2013.398
- Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.Eur J Hum Genet. 2018; 26: 1392-1395https://doi.org/10.1038/s41431-018-0195-2
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- ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.Am J Hum Genet. 1998; 62: 334-345https://doi.org/10.1086/301706
- Uniparental disomy as a mechanism for human genetic disease.Am J Hum Genet. 1998; 42: 217-226
- Molecular findings among patients referred for clinical whole-exome sequencing.JAMA. 2014; 312: 1870-1879https://doi.org/10.1001/jama.2014.14601
- Accurate detection of clinically relevant uniparental disomy from exome sequencing data.Genet Med. 2020; 22: 803-808https://doi.org/10.1038/s41436-019-0704-x
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2020; 22: 1133-1141https://doi.org/10.1038/s41436-020-0782-9