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Nature, ISSN 0028-0836, 2014, Volume 507, Issue 7492, pp. 371 - 375
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2017, Volume 101, Issue 1, pp. 87 - 103
Journal Article
by Sudmant, Peter H and Rausch, Tobias and Gardner, Eugene J and Handsaker, Robert E and Abyzov, Alexej and Huddleston, John and Zhang, Yan and Ye, Kai and Jun, Goo and Fritz, Markus His-Yang and Konkel, Miriam K and Malhotra, Ankit and Stütz, Adrian M and Shi, Xinghua and Casale, Francesco Paolo and Chen, Jieming and Hormozdiari, Fereydoun and Dayama, Gargi and Chen, Ken and Malig, Maika and Chaisson, Mark J.P and Walter, Klaudia and Meiers, Sascha and Kashin, Seva and Garrison, Erik and Auton, Adam and Lam, Hugo Y.K and Mu, Xinmeng Jasmine and Alkan, Can and Antaki, Danny and Bae, Taejeong and Cerveira, Eliza and Chines, Peter and Chong, Zechen and Clarke, Laura and Dal, Elif and Ding, Li and Emery, Sarah and Fan, Xian and Gujral, Madhusudan and Kahveci, Fatma and Kidd, Jeffrey M and Kong, Yu and Lameijer, Eric-Wubbo and McCarthy, Shane and Flicek, Paul and Gibbs, Richard A and Marth, Gabor and Mason, Christopher E and Menelaou, Androniki and Muzny, Donna M and Nelson, Bradley J and Noor, Amina and Parrish, Nicholas F and Pendleton, Matthew and Quitadamo, Andrew and Raeder, Benjamin and Schadt, Eric E and Romanovitch, Mallory and Schlattl, Andreas and Sebra, Robert and Shabalin, Andrey A and Untergasser, Andreas and Walker, Jerilyn A and Wang, Min and Yu, Fuli and Zhang, Chengsheng and Zhang, Jing and Zheng-Bradley, Xiangqun and Zhou, Wanding and Zichner, Thomas and Sebat, Jonathan and Batzer, Mark A and McCarroll, Steven A and Mills, Ryan E and Gerstein, Mark B and Bashir, Ali and Stegle, Oliver and Devine, Scott E and Lee, Charles and Eichler, Evan E and Korbel, Jan O and Genomes Project Consortium and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 09/2015, Volume 526, Issue 7571, pp. 75 - 81
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 5, pp. 897 - 909.e21
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We... 
DYT3 | XDP | dystonia | transcriptome assembly | retrotransposon | Parkinson’s disease | genome assembly | intron retention | SVA | TAF1 | Parkinson's disease | II ELONGATION RATE | STEM-CELLS | HUMAN-DISEASE | RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | INTRON RETENTION | GENE-EXPRESSION | INTERFERENCE | SEQUENCING DATA | VARIATION DISCOVERY | CELL BIOLOGY | TATA-Binding Protein Associated Factors - metabolism | Humans | Histone Acetyltransferases - genetics | Nerve Degeneration - genetics | Male | Genetic Loci | Transcription Factor TFIID - metabolism | RNA, Messenger - metabolism | Transcription Factor TFIID - genetics | Haplotypes - genetics | Short Interspersed Nucleotide Elements | Base Sequence | Histone Acetyltransferases - metabolism | Minisatellite Repeats - genetics | Female | Genetic Diseases, X-Linked - genetics | Neurons - metabolism | Alu Elements - genetics | Induced Pluripotent Stem Cells - metabolism | Dystonic Disorders - genetics | Introns - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Transcriptome - genetics | TATA-Binding Protein Associated Factors - genetics | CRISPR-Cas Systems - genetics | Nerve Degeneration - pathology | Family | High-Throughput Nucleotide Sequencing | Models, Genetic | Genome, Human | Neural Stem Cells - metabolism | Cohort Studies | Nervous system diseases | Analysis | Genomics | Genetic research | Genetic aspects | Dystonia | Index Medicus
Journal Article
Journal Article
by Liu, Ching-Ti and Liu, Jingmin and Liu, Simin and Liu, Yongmei and Raghavan, Sridharan and Maruthur, Nisa and Kabagambe, Edmond Kato and Hong, Jaeyoung and Ng, Maggie C.Y and Hivert, Marie-France and Lu, Yingchang and An, Ping and Bentley, Amy R and Drolet, Anne M and Gaulton, Kyle J and Guo, Xiuqing and Armstrong, Loren L and Irvin, Marguerite R and Li, Man and Li, Xiaohui and Lipovich, Leonard and Rybin, Denis V and Taylor, Kent D and Agyemang, Charles and Palmer, Nicholette D and Cade, Brian E and Chen, Yii-Der Ida and Chen, Guanjie and Chen, Wei-Min and Dauriz, Marco and Delaney, Joseph A.C and Edwards, Todd L and Evans, Daniel S and Evans, Michele K and Lange, Leslie A and Leong, Aaron and Nayak, Uma and Patel, Sanjay R and Porneala, Bianca C and Rasmussen-Torvik, Laura J and Snijder, Marieke B and Stallings, Sarah C and Tanaka, Toshiko and Yanek, Lisa R and Zhao, Wei and Becker, Diane M and Bielak, Lawrence F and Biggs, Mary L and Bottinger, Erwin P and Bowden, Donald W and Correa, Adolfo and Couper, David J and Crawford, Dana C and Cushman, Mary and Eicher, John D and Fornage, Myriam and Franceschini, Nora and Fu, Yi-Ping and Goodarzi, Mark O and Gottesman, Omri and Hara, Kazuo and Harris, Tamara B and Jensen, Richard A and Johnson, Andrew D and Jhun, Min A and Karter, Andrew J and Keller, Margaux F and Kho, Abel N and Kizer, Jorge R and Krauss, Ronald M and Langefeld, Carl D and Liang, Jingling and Lowe, William L and Mosley, Thomas H and North, Kari E and Pacheco, Jennifer A and Peyser, Patricia A and Patrick, Alan L and Rice, Kenneth M and Selvin, Elizabeth and Sims, Mario and Smith, Jennifer A and Tajuddin, Salman M and Vaidya, Dhananjay and Wren, Mary P and Yao, Jie and Zhu, Xiaofeng and Ziegler, Julie T and Zmuda, Joseph M and Zonderman, Alan B and Zwinderman, Aeilko H and Adeyemo, Adebowale and Boerwinkle, Eric and Ferrucci, Luigi and Hayes, M. Geoffrey and Kardia, Sharon L.R and Miljkovic, Iva and Pankow, James S and Rotimi, Charles N and Sale, Michele M and ... and MEDIA Consortium and COGENT-BP Consortium and AAAG Consortium and eMERGE Consortium and MAGIC Consortium and CARe Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 56 - 75
Journal Article
Journal Article
Journal Article