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Human Heredity, ISSN 0001-5652, 06/2018, Volume 83, Issue 1, p. 26
Principal Component Analysis of SNP data has been a mainstay of ancestry analysis in human population genetics. In this study, we combine both copy number... 
Genotype & phenotype | Data analysis | Genealogy | Copy number | Data acquisition systems | Data processing | Population studies | Single-nucleotide polymorphism | Genetic diversity | Variation | Population genetics | Genotypes
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 50 - 56
Biallelic variants in the AEBP1 gene cause a novel autosomal‐recessive connective tissue disorder (CTD) reminiscent of Ehlers‐Danlos Syndrome (EDS). The four... 
Ehlers‐Danlos syndrome | AEBP1 | EDS | connective tissue disorder | recessive | Ehlers-Danlos syndrome | CARBOXYPEPTIDASE-LIKE PROTEIN | GENETICS & HEREDITY | FRAMEWORK | SEQUENCE VARIANTS | ASSOCIATION | GENOME | DNA microarrays | Transcription | mRNA turnover | Hereditary diseases
Journal Article
Journal Article
by Aung, Tin and Ozaki, Mineo and Mizoguchi, Takanori and Allingham, R Rand and Li, Zheng and Haripriya, Aravind and Nakano, Satoko and Uebe, Steffen and Harder, Jeffrey M and Chan, Anita S.Y and Lee, Mei Chin and Burdon, Kathryn P and Astakhov, Yury S and Abu-Amero, Khaled K and Zenteno, Juan C and Nilgün, Yildirim and Zarnowski, Tomasz and Pakravan, Mohammad and Safieh, Leen Abu and Jia, Liyun and Wang, Ya Xing and Williams, Susan and Paoli, Daniela and Schlottmann, Patricio G and Huang, Lulin and Sim, Kar Seng and Foo, Jia Nee and Nakano, Masakazu and Ikeda, Yoko and Kumar, Rajesh S and Ueno, Morio and Manabe, Shin-Ichi and Hayashi, Ken and Kazama, Shigeyasu and Ideta, Ryuichi and Mori, Yosai and Miyata, Kazunori and Sugiyama, Kazuhisa and Higashide, Tomomi and Chihara, Etsuo and Inoue, Kenji and Ishiko, Satoshi and Yoshida, Akitoshi and Yanagi, Masahide and Kiuchi, Yoshiaki and Aihara, Makoto and Ohashi, Tsutomu and Sakurai, Toshiya and Sugimoto, Takako and Chuman, Hideki and Matsuda, Fumihiko and Yamashiro, Kenji and Gotoh, Norimoto and Miyake, Masahiro and Astakhov, Sergei Y and Osman, Essam A and Al-Obeidan, Saleh A and Owaidhah, Ohoud and Al-Jasim, Leyla and Shahwan, Sami Al and Fogarty, Rhys A and Leo, Paul and Yetkin, Yaz and Ouz, Çilingir and Kanavi, Mozhgan Rezaei and Beni, Afsaneh Nederi and Yazdani, Shahin and Akopov, Evgeny L and Toh, Kai-Yee and Howell, Gareth R and Orr, Andrew C and Goh, Yufen and Meah, Wee Yang and Peh, Su Qin and Kosior-Jarecka, Ewa and Lukasik, Urszula and Krumbiegel, Mandy and Vithana, Eranga N and Wong, Tien Yin and Liu, Yutao and Koch, Allison E. Ashley and Challa, Pratap and Rautenbach, Robyn M and Mackey, David A and Hewitt, Alex W and Mitchell, Paul and Wang, Jie Jin and Ziskind, Ari and Carmichael, Trevor and Ramakrishnan, Rangappa and Narendran, Kalpana and Venkatesh, Rangaraj and Vijayan, Saravanan and Zhao, Peiquan and Chen, Xueyi and Guadarrama-Vallejo, Dalia and Cheng, Ching Yu and Perera, Shamira A and Husain, Rahat and Ho, Su-Ling and ... and Blue Mountains Eye Study GWAS Team and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium 2
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 387 - 392
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2011, Volume 19, Issue 2, pp. 186 - 193
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2018, Volume 115, Issue 30, pp. 7813 - 7818
Journal Article