PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Genomics & Informatics10.5808/gi.210442022203e28Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomyParisima Ghaffarian Zavarzadeh, Morteza Bonyadi, Zahra Abedihttp://genominfo.org/upload/pdf/gi-21044.pdf, http://genominfo.org/journal/view.php?doi=10.5808/gi.21044, http://genominfo.org/upload/pdf/gi-21044.pdf
Cytogenetic and Genome Research10.1159/00050921420201606309-315Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity MappingAbdullah Sezer, Gülsüm Kayhan, Altuğ Koç, Mehmet A. Ergün, Ferda E. Perçinhttps://www.karger.com/Article/Pdf/509214, https://www.karger.com/Article/Pdf/509214
Gene10.1016/j.gene.2012.10.03520135122267-274Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populationsKensaku Sasaki, Hiroyuki Mishima, Kiyonori Miura, Koh-ichiro Yoshiurahttps://api.elsevier.com/content/article/PII:S0378111912013133?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0378111912013133?httpAccept=text/plain
Molecular Genetics & Genomic Medicine10.1002/mgg3.774201978Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletionEmmanuelle Souzeau, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craighttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.774, https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.774, https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.774, https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.774
10.21203/rs.3.rs-96042/v12020Whole Exome Sequencing of Simultaneous Primary Multifocal Lung Cancer (SMPLC): Case Report and Bioinformatics AnalysisDonglin Zhu, Minghong Shen, Jinghuan Lvhttps://www.researchsquare.com/article/rs-96042/v1, https://www.researchsquare.com/article/rs-96042/v1.html
Clinical Genetics10.1111/cge.120642012843213-222Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotypeH Carmichael, Y Shen, TT Nguyen, JN Hirschhorn, A Dauberhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12064
Scientific Reports10.1038/s41598-022-20939-52022121Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucomaBushra 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 Riazuddinhttps://www.nature.com/articles/s41598-022-20939-5.pdf, https://www.nature.com/articles/s41598-022-20939-5, https://www.nature.com/articles/s41598-022-20939-5.pdf
Acta Ophthalmologica10.1111/j.1755-3768.2015.0068201593n/a-n/aWhole exome sequencing in patients with congenital cataractsP. Liskovahttp://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1755-3768.2015.0068, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1755-3768.2015.0068/fullpdf
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics10.1002/ajmg.b.3245820161716875-878Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronicNTRK1-mutation due to uniparental disomyIngo Kurth, Manuela Baumgartner, Maria Schabhüttl, Cecilia Tomni, Reinhard Windhager, Tim M. Strom, Thomas Wieland, Kurt Gremel, Michaela Auer-Grumbachhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.b.32458, https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.b.32458
PLOS ONE10.1371/journal.pone.01592592016117e0159259Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital GlaucomaShazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Aftab Iqbal, Muhammad Imran Khan, Anneke I. den Hollanderhttp://dx.plos.org/10.1371/journal.pone.0159259