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Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, p. 36
Journal Article
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2019, Volume 1885, pp. 251 - 265
Precise tests for genomic structural variation (SV) are essential for accurate diagnosis of prenatal genome abnormalities. The two most ubiquitous traditional... 
Copy-number variation | Chromosomal abnormalities | Jumping libraries | Prenatal diagnosis | Whole-genome sequencing | Structural variation | Translocation, Genetic | Gene Library | DNA Fragmentation | Humans | Chromosome Aberrations | High-Throughput Nucleotide Sequencing - methods | Prenatal Diagnosis - methods | DNA Copy Number Variations
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
Journal Article
by Rubchinsky, Leonid L and Ahn, Sungwoo and Klijn, Wouter and Cumming, Ben and Yates, Stuart and Karakasis, Vasileios and Peyser, Alexander and Woodman, Marmaduke and Diaz-Pier, Sandra and Deraeve, James and Vassena, Eliana and Alexander, William and Beeman, David and Kudela, Pawel and Boatman-Reich, Dana and Anderson, William S and Luque, Niceto R and Naveros, Francisco and Carrillo, Richard R and Ros, Eduardo and Arleo, Angelo and Huth, Jacob and Ichinose, Koki and Park, Jihoon and Kawai, Yuji and Suzuki, Junichi and Mori, Hiroki and Asada, Minoru and Oprisan, Sorinel A and Dave, Austin I and Babaie, Tahereh and Robinson, Peter and Tabas, Alejandro and Andermann, Martin and Rupp, André and Balaguer-Ballester, Emili and Lindén, Henrik and Christensen, Rasmus K and Nakamura, Mari and Barkat, Tania R and Tosi, Zach and Beggs, John and Lonardoni, Davide and Boi, Fabio and Di Marco, Stefano and Maccione, Alessandro and Berdondini, Luca and Jędrzejewska-Szmek, Joanna and Dorman, Daniel B and Blackwell, Kim T and Bauermeister, Christoph and Keren, Hanna and Braun, Jochen and Dornas, João V and Mavritsaki, Eirini and Aldrovandi, Silvio and Bridger, Emma and Lim, Sukbin and Brunel, Nicolas and Buchin, Anatoly and Kerr, Clifford Charles and Chizhov, Anton and Huberfeld, Gilles and Miles, Richard and Gutkin, Boris and Spencer, Martin J and Meffin, Hamish and Grayden, David B and Burkitt, Anthony N and Davey, Catherine E and Tao, Liangyu and Tiruvadi, Vineet and Ali, Rehman and Mayberg, Helen and Butera, Robert and Gunay, Cengiz and Lamb, Damon and Calabrese, Ronald L and Doloc-Mihu, Anca and López-Madrona, Víctor J and Matias, Fernanda S and Pereda, Ernesto and Mirasso, Claudio R and Canals, Santiago and Geminiani, Alice and Pedrocchi, Alessandra and D’Angelo, Egidio and Casellato, Claudia and Chauhan, Ankur and Soman, Karthik and Srinivasa Chakravarthy, V and Muddapu, Vignayanandam R and Chuang, Chao-Chun and Chen, Nan-yow and Bayati, Mehdi and Melchior, Jan and Wiskott, Laurenz and Azizi, Amir Hossein and Diba, Kamran and Cheng, Sen and ...
BMC Neuroscience, ISSN 1471-2202, 08/2017, Volume 18, Issue S1, pp. 59 - 79
Journal Article
by Redin, Claire and Brand, Harrison and Collins, Ryan L and Kammin, Tammy and Mitchell, Elyse and Hodge, Jennelle C and Hanscom, Carrie and Pillalamarri, Vamsee and Seabra, Catarina M and Abbott, Mary-Alice and Abdul-Rahman, Omar A and Aberg, Erika and Adley, Rhett and Alcaraz-Estrada, Sofia L and Alkuraya, Fowzan S and An, Yu and Anderson, Mary-Anne and Antolik, Caroline and Anyane-Yeboa, Kwame and Atkin, Joan F and Bartell, Tina and Bernstein, Jonathan A and Beyer, Elizabeth and Blumenthal, Ian and Bongers, Ernie M H F and Brilstra, Eva H and Brown, Chester W and Brüggenwirth, Hennie T and Callewaert, Bert and Chiang, Colby and Corning, Ken and Cox, Helen and Cuppen, Edwin and Currall, Benjamin B and Cushing, Tom and David, Dezso and Deardorff, Matthew A and Dheedene, Annelies and D'Hooghe, Marc and de Vries, Bert B A and Earl, Dawn L and Ferguson, Heather L and Fisher, Heather and FitzPatrick, David R and Gerrol, Pamela and Giachino, Daniela and Glessner, Joseph T and Gliem, Troy and Grady, Margo and Graham, Brett H and Griffis, Cristin and Gripp, Karen W and Gropman, Anea L and Hanson-Kahn, Anea and Harris, David J and Hayden, Mark A and Hill, Rosamund and Hochstenbach, Ron and Hoffman, Jodi D and Hopkin, Robert J and Hubshman, Monika W and Innes, A Micheil and Irons, Mira and Irving, Melita and Jacobsen, Jessie C and Janssens, Sana and Jewett, Tamison and Johnson, John P and Jongmans, Marjolijn C and Kahler, Stephen G and Koolen, David A and Korzelius, Jerome and Kroisel, Peter M and Lacassie, Yves and Lawless, William and Lemyre, Emmanuelle and Leppig, Kathleen and Levin, Alex V and Li, Haibo and Li, Hong and Liao, Eric C and Lim, Cynthia and Lose, Edward J and Lucente, Diane and Macera, Michael J and Manavalan, Poornima and Manile, Giorgia and Marcelis, Carlo L and Margolin, Lauren and Mason, Tamara and Masser-Frye, Diane and McClellan, Michael W and Mendoza, Cinthya J Zepeda and Menten, Björn and Middelkamp, Sjors and Mikami, Liya R and Moe, Emily and Mohammed, Shehla and Mononen, Tarja and Mortenson, Megan E and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, p. 36–45
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution.... 
Journal Article
by Redin, Claire and Brand, Harrison and Collins, Ryan L and Kammin, Tammy and Mitchell, Elyse and Hodge, Jennelle C and Hanscom, Carrie and Pillalamarri, Vamsee and Seabra, Catarina M and Abbott, Mary-Alice and Abdul-Rahman, Omar A and Aberg, Erika and Adley, Rhett and Alcaraz-Estrada, Sofia L and Alkuraya, Fowzan S and An, Yu and Anderson, Mary-Anne and Antolik, Caroline and Anyane-Yeboa, Kwame and Atkin, Joan F and Bartell, Tina and Bernstein, Jonathan A and Beyer, Elizabeth and Blumenthal, Ian and Bongers, Ernie M. H. F and Brilstra, Eva H and Brown, Chester W and Bruggenwirth, Hennie T and Callewaert, Bert and Chiang, Colby and Corning, Ken and Cox, Helen and Cuppen, Edwin and Currall, Benjamin B and Cushing, Tom and David, Dezso and Deardorff, Matthew A and Dheedene, Annelies and D'Hooghe, Marc and de Vries, Bert B. A and Earl, Dawn L and Ferguson, Heather L and Fisher, Heather and FitzPatrick, David R and Gerrol, Pamela and Giachino, Daniela and Glessner, Joseph T and Gliem, Troy and Grady, Margo and Graham, Brett H and Griffis, Cristin and Gripp, Karen W and Gropman, Anea L and Hanson-Kahn, Anea and Harris, David J and Hayden, Mark A and Hill, Rosamund and Hochstenbach, Ron and Hoffman, Jodi D and Hopkin, Robert J and Hubshman, Monika W and Innes, A. Micheil and Irons, Mira and Irving, Melita and Jacobsen, Jessie C and Janssens, Sana and Jewett, Tamison and Johnson, John P and Jongmans, Marjolijn C and Kahler, Stephen G and Koolen, David A and Korzelius, Jerome and Kroisel, Peter M and Lacassie, Yves and Lawless, William and Lemyre, Emmanuelle and Leppig, Kathleen and Levin, Alex V and Li, Haibo and Li, Hong and Liao, Eric C and Lim, Cynthia and Lose, Edward J and Lucente, Diane and Macera, Michael J and Manavalan, Poornima and Manile, Giorgia and Marcelis, Carlo L and Margolin, Lauren and Mason, Tamara and Masser-Frye, Diane and McClellan, Michael W and Mendoza, Cinthya J. Zepeda and Menten, Bjorn and Middelkamp, Sjors and Mikami, Liya R and Moe, Emily and Mohammed, Shehla and Mononen, Tarja and Mortenson, Megan E and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 36 - 45
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution.... 
Journal Article
Marine Mammal Science, ISSN 0824-0469, 07/2010, Volume 26, Issue 3, p. 716
Journal Article
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