PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Genomics & Informatics10.5808/gi.2012.10.4.2142012104214Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human DiseasesGerald Goh, Murim Choihttp://synapse.koreamed.org/DOIx.php?id=10.5808/GI.2012.10.4.214
European Journal of Human Genetics10.1038/ejhg.2014.1252014234547-550Using whole-exome sequencing to identify variants inherited from mosaic parentsJonathan J Rios, Mauricio R Delgadohttp://www.nature.com/articles/ejhg2014125.pdf, http://www.nature.com/articles/ejhg2014125, http://www.nature.com/articles/ejhg2014125.pdf
Genes10.3390/genes110505122020115512Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital CataractVanita Berry, Alex Ionides, Nikolas Pontikos, Ismail Moghul, Anthony T. Moore, Roy A. Quinlan, Michel Michaelideshttps://www.mdpi.com/2073-4425/11/5/512/pdf
Inflammatory Bowel Diseases10.1093/ibd/izaa347.075202127Supplement_1S32-S32UTILIZATION OF WHOLE EXOME SEQUENCING DATA TO IDENTIFY CLINICALLY RELEVANT PHARMACOGENOMIC VARIANTS IN INFLAMMATORY BOWEL DISEASEDaniel Mulder, Sam Khalouei, Neil Warner, Claudia Gonzaga-Jauregui, Peter Church, Tom Walters, Arun Ramani, Anne Griffiths, Iris Cohn, Aleixo Muisehttp://academic.oup.com/ibdjournal/article-pdf/27/Supplement_1/S32/35931843/izaa347.075.pdf, http://academic.oup.com/ibdjournal/article-pdf/27/Supplement_1/S32/35931843/izaa347.075.pdf
Genetic Epidemiology10.1002/gepi.219722016405432-441Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and PalateAlana Aylward, Yi Cai, Andrew Lee, Elizabeth Blue, Daniel Rabinowitz, Joseph Haddad, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fgepi.21972, https://onlinelibrary.wiley.com/doi/full/10.1002/gepi.21972
10.21203/rs.3.rs-142511/v12021Whole-exome Sequencing Identify Rare Variants in Novel Candidate Genes with Non-syndromic Patent Ductus ArteriosusYing Gao, Ying Liu, Jiaoyu Li, Yinghui Chen, Qi Zhang, Bingyao Zhang, Pengjun Zhao, Bo Chenhttps://www.researchsquare.com/article/rs-142511/v1, https://www.researchsquare.com/article/rs-142511/v1.html
Neuromuscular Disorders10.1016/s0960-8966(12)70096-2201222S31-S32P88 Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathyM. Wagner, S. Laval, J. Mueller, H. Durmus, P. Serdaroglu-Oflazer, H. Lochmüllerhttps://api.elsevier.com/content/article/PII:S0960896612700962?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896612700962?httpAccept=text/plain
Alzheimer's & Dementia10.1016/j.jalz.2016.06.3072016127S_Part_3O1‐03‐04: Whole Exome Sequencing in Healthy Elderly APOE E44 Subjects to Identify Protective Variants in Alzheimer’s DiseaseBadri N. Vardarajan, Alexander H. Li, Eric Boerwinkle, Richard Mayeuxhttps://api.elsevier.com/content/article/PII:S1552526016306094?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1552526016306094?httpAccept=text/plain, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2Fj.jalz.2016.06.307, https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2016.06.307, https://onlinelibrary.wiley.com/doi/full-xml/10.1016/j.jalz.2016.06.307, https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2016.06.307
Gastroenterology10.1053/j.gastro.2021.01.11920211603S43UTILIZATION OF WHOLE EXOME SEQUENCING DATA TO IDENTIFY CLINICALLY RELEVANT PHARMACOGENOMIC VARIANTS IN INFLAMMATORY BOWEL DISEASEDaniel Mulder, Sam Khalouei, Neil Warner, Claudia Gonzaga-Jauregui, Peter Church, Tom Walters, Arun Ramani, Anne Griffiths, Iris Cohn, Aleixo Muisehttps://api.elsevier.com/content/article/PII:S0016508521001864?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0016508521001864?httpAccept=text/plain
Genetics and Genomics of Eye Disease10.1016/b978-0-12-816222-4.00003-4202027-39Whole-exome sequencing and whole-genome sequencingHui Wang, Rui Chenhttps://api.elsevier.com/content/article/PII:B9780128162224000034?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:B9780128162224000034?httpAccept=text/plain