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Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy
Parisima Ghaffarian Zavarzadeh, Morteza Bonyadi, Zahra Abedi
Genomics Inform. 2022;20(3):e25  Published online September 6, 2022
DOI: https://doi.org/10.5808/gi.21044

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Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping
Cytogenetic and Genome Research. 2020;160(6):309-315   Crossref logo
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Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations
Gene. 2013;512(2):267-274   Crossref logo
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Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 andCYP1B1deletion
Molecular Genetics & Genomic Medicine. 2019;7(8):   Crossref logo
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Whole Exome Sequencing of Simultaneous Primary Multifocal Lung Cancer (SMPLC): Case Report and Bioinformatics Analysis
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Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype
Clinical Genetics. 2012;84(3):213-222   Crossref logo
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Whole exome sequencing in patients with congenital cataracts
Acta Ophthalmologica. 2015;93:n/a-n/a   Crossref logo
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Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronicNTRK1-mutation due to uniparental disomy
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2016;171(6):875-878   Crossref logo
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Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma
PLOS ONE. 2016;11(7):e0159259   Crossref logo
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Case report: mutation analysis of primary pulmonary lymphoepithelioma-like carcinoma via whole-exome sequencing
Diagnostic Pathology. 2019;14(1):   Crossref logo
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Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Molecular Genetics and Metabolism Reports. 2020;25:100660   Crossref logo
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