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American journal of human genetics, ISSN 0002-9297, 2017, Volume 101, Issue 1, pp. 87 - 103
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2009, Volume 4, Issue 2, p. e4352
Background: Genomic imprinting is an exception to Mendelian genetics in that imprinted genes are expressed monoallelically, dependent on parental origin... 
MULTIDISCIPLINARY SCIENCES | Multigene Family | Oligonucleotide Array Sequence Analysis | Chromosomes, Mammalian - genetics | Parthenogenesis - genetics | DNA, Complementary - genetics | Antibodies | Molecular Sequence Data | RNA, Messenger - metabolism | Embryo, Mammalian - metabolism | Base Sequence | Cloning, Molecular | Female | Fibroblasts - metabolism | Telomere - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Intercellular Signaling Peptides and Proteins - genetics | Genomic Imprinting - genetics | Proteins - genetics | Polyadenylation - genetics | Animals | Centromere - genetics | Embryo, Mammalian - cytology | RNA, Long Noncoding | Mice | MicroRNAs - genetics | Iodide Peroxidase - genetics | RNA | Analysis | Genes | Sheep | Genetics | Genetic aspects | Book publishing | Genetic transcription | Transcription | Architects | Disorders | Biology | Thyroid gland | Preadipocyte factor 1 | Genomic imprinting | Immunology | Imprinting | DNA methylation | Fibroblasts | Chromosome 12 | miRNA | Chromosomes | Medical research | Prader-Willi syndrome | Introns | Cloning | Abnormalities | Underpotential deposition | Embryo fibroblasts | Gene expression | Ribonucleic acid--RNA | Embryos | Virology | Northern blotting | Polymerase chain reaction | MicroRNAs | Alleles | Epigenetics | Aberration | Cancer | Ribonucleic acid
Journal Article
Nature genetics, ISSN 1546-1718, 2007, Volume 39, Issue 6, pp. 724 - 726
Journal Article
Nature (London), ISSN 1476-4687, 2014, Volume 507, Issue 7492, pp. 371 - 375
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2012, Volume 109, Issue 15, pp. 5844 - 5849
Journal Article
Cell (Cambridge), ISSN 0092-8674, 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
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 Hsi-Yang Fritz, Markus and Konkel, Miriam K and Malhotra, Ankit and Stütz, Adrian M and Shi, Xinghua and Paolo Casale, Francesco 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 Jasmine Mu, Xinmeng 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 The 1000 Genomes Project Consortium and Genomes Project Consortium and 1000 Genomes Project Consortium
Nature (London), ISSN 1476-4687, 2015, Volume 526, Issue 7571, pp. 75 - 81
Journal Article
by Carss, Keren J and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Clement, Emma and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Hurst, Jane and MacLaren, Robert E and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony T and Webster, Andrew R and Raymond, F. Lucy and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brady, Angie and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Carss, Keren and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and Everington, Tamara and Favier, Remi and Firth, Helen and Fletcher, Debra and Flinter, Frances and ... and NIHR-BioResource Rare Diseases Consortium and NIHR-BioResource Rare Dis
American journal of human genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article