Genomics & Informatics

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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):e28 Published online September 30, 2022
DOI: https://doi.org/10.5808/gi.21044

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 & Informatics. 2022;20(3):e28

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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

Abdullah Sezer, Gülsüm Kayhan, Altuğ Koç, Mehmet A. Ergün, Ferda E. Perçin

Cytogenetic and Genome Research. 2020;160(6):309-315

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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

Kensaku Sasaki, Hiroyuki Mishima, Kiyonori Miura, Koh-ichiro Yoshiura

Gene. 2013;512(2):267-274

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Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig

Molecular Genetics & Genomic Medicine. 2019;7(8):

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Whole Exome Sequencing of Simultaneous Primary Multifocal Lung Cancer (SMPLC): Case Report and Bioinformatics Analysis

Donglin Zhu, Minghong Shen, Jinghuan Lv

. 2020;

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Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

H Carmichael, Y Shen, TT Nguyen, JN Hirschhorn, A Dauber

Clinical Genetics. 2012;84(3):213-222

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

Bushra Rauf, Shahid Y. Khan, Xiaodong Jiao, Bushra Irum, Ramla Ashfaq, Mubashra Zehra, Asma A. Khan, Muhammad Asif Naeem, Mohsin Shahzad, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

Scientific Reports. 2022;12(1):

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Whole exome sequencing in patients with congenital cataracts

P. Liskova

Acta Ophthalmologica. 2015;93:n/a-n/a

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Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronicNTRK1-mutation due to uniparental disomy

Ingo Kurth, Manuela Baumgartner, Maria Schabhüttl, Cecilia Tomni, Reinhard Windhager, Tim M. Strom, Thomas Wieland, Kurt Gremel, Michaela Auer-Grumbach

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2016;171(6):875-878

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Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Aftab Iqbal, Muhammad Imran Khan, Anneke I. den Hollander

PLOS ONE. 2016;11(7):e0159259

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