PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Pediatrics10.3345/kjp.2018.067722019625193-197De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in KoreaKyoung Hee Han, Jong Eun Park, Chang-Seok Kihttp://kjp.or.kr/upload/pdf/kjp-2018-06772.pdf, http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2018.06772, http://kjp.or.kr/upload/pdf/kjp-2018-06772.pdf
Gene10.1016/j.gene.2019.1442282020727144228Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndromeShahram Torkamandi, Somaye Rezaei, Reza Mirfakhraei, Masomeh Askari, Samira Piltan, Milad Gholamihttps://api.elsevier.com/content/article/PII:S037811191930887X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S037811191930887X?httpAccept=text/plain
Acta Ophthalmologica Scandinavica10.1034/j.1600-0420.1999.770220.x1999772214-217Ocular findings in 34 patients with Alport syndrome, correlation of the findings to mutations in COL4A5 geneH. Pajari, K. Setälä, N. Heiskari, H. Kääriäinen, K. Rosenlöf, O. Koskimieshttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1600-0420.1999.770220.x, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1600-0420.1999.770220.x, http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1600-0420.1999.770220.x/fullpdf
Bioscience Reports10.1042/bsr2020335620204012Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype–phenotype correlations in the Chinese populationYuduo Wu, Hairui Sun, Jianbin Wang, Xin Wang, Ming Gong, Lu Han, Yihua He, Hongjia Zhanghttps://portlandpress.com/bioscirep/article-pdf/doi/10.1042/BSR20203356/898744/bsr-2020-3356.pdf, https://portlandpress.com/bioscirep/article-pdf/doi/10.1042/BSR20203356/898744/bsr-2020-3356.pdf
Gastroenterology10.1053/j.gastro.2012.09.027201214351385-1387Recurrent Somatic Mutations in Human Gastric Cancers Identified by Whole Exome SequencingTakahiro Shimizu, Hiroyuki Marusawa, Tsutomu Chibahttps://api.elsevier.com/content/article/PII:S0016508512013832?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0016508512013832?httpAccept=text/plain
10.21203/rs.2.19325/v32020Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani familiesYingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang, Shahid Mahmood Baighttps://www.researchsquare.com/article/rs-9938/v3, https://www.researchsquare.com/article/rs-9938/v3.html
10.21203/rs.2.19325/v12019Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistan familiesYingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang, Shahid Mahmood Baighttps://www.researchsquare.com/article/rs-9938/v1, https://www.researchsquare.com/article/rs-9938/v1.html
PLOS ONE10.1371/journal.pone.01786302017126e0178630Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysisChiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldàhttp://dx.plos.org/10.1371/journal.pone.0178630
Frontiers in Genetics10.3389/fgene.2019.00258201910De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to ApplicationWeidi Wang, Roser Corominas, Guan Ning Linhttps://www.frontiersin.org/article/10.3389/fgene.2019.00258/full
Molecular Neurobiology10.1007/s12035-017-0483-920175532483-2493Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome SequencingZhenwei Liu, Zhongshan Li, Xiao Zhi, Yaoqiang Du, Zhongdong Lin, Jinyu Wuhttp://link.springer.com/article/10.1007/s12035-017-0483-9/fulltext.html, http://link.springer.com/content/pdf/10.1007/s12035-017-0483-9.pdf, http://link.springer.com/content/pdf/10.1007/s12035-017-0483-9.pdf