المؤلفون: Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski, James F. Gusella

المصدر: Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: MBD5, Autism spectrum disorder, NDD, CRISPR, Mouse, Neurons, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00354-1; https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/b709c64d351049a6a80897cdee6396b8

المؤلفون: Ian Blumenthal, Catarina M. Seabra, Poornima Manavalan, Charles Lee, Ryan L. Collins, Derek J. C. Tai, Yiping Shen, Michael E. Talkowski, Mustafa Sahin, James F. Gusella, Xiaoli Chen, Serkan Erdin, Alexei Stortchevoi, Chengsheng Zhang, Ashok Ragavendran

المصدر: Nature neuroscience

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Chromosome Disorders, Genomic Disorder, Copy Number Variation (CNV), Biology, Article, Genome engineering, Structural variation, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Genome editing, Seizures, Intellectual Disability, Genetic model, Genome Editing, Humans, CRISPR, Clustered Regularly Interspaced Short Palindromic Repeats, Copy-number variation, Autistic Disorder, Cas9, Sequence Deletion, Segmental duplication, Genetics, Chromosomes, Human, Pair 15, General Neuroscience, 16p11.2, Structural Variation, Homology, NAHR, 030104 developmental biology, CRISPR-Cas Systems, Chromosome Deletion, Genetic Engineering, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c881be752bacba4d75c18406058edff
https://doi.org/10.1038/nn.4235

المؤلفون: Bert Callewaert, Robert J. Hopkin, David A. Koolen, Hennie T. Brüggenwirth, Dezso David, Heather L. Ferguson, Helen Cox, Claire Redin, Joseph V. Thakuria, Ryan L. Collins, Mary-Alice Abbott, Michael E. Talkowski, Sjors Middelkamp, Michael J. Macera, Salmo Raskin, William J. Rhead, Heather Fisher, Han G. Brunner, Emmanuelle Lemyre, Margo Grady, Elyse Mitchell, Tarja Mononen, Sofia L. Alcaraz-Estrada, Cristin Griffis, Emily Moe, Samantha L.P. Schilit, Matthew J. Waterman, Colby Chiang, Aggie W. M. Nieuwint, Ivo Renkens, Joan F. Atkin, Jessie C. Jacobsen, Shehla Mohammed, Ernie M.H.F. Bongers, Maria de la Concepcion A Yerena-de Vega, Wigard P. Kloosterman, Jiddeke M. van de Kamp, Ton van Essen, Liya R Mikami, Tom Cushing, Conny M. A. van Ravenswaaij-Arts, Melita Irving, Kwame Anyane-Yeboa, Diane Masser-Frye, Catarina M. Seabra, Daniela Giachino, Bert B.A. de Vries, Brynn Levy, Caroline Antolik, Tina M. Bartell, Erika Aberg, Edwin Cuppen, Pamela Gerrol, Shahrin Pereira, Megan Mortenson, Raul Eduardo Pina Aguilar, Zehra Ordulu, Jennelle C. Hodge, Nicole de Leeuw, Troy J. Gliem, Michael W. McClellan, Sarah Vergult, Julia Tagoe, Giulia Pregno, Sandhya Parkash, David R. FitzPatrick, Giorgia Mandrile, Catharina M L Volker-Touw, Joseph T. Glessner, Danielle Perrin, Haibo Li, Peter M. Kroisel, Rhett Adley, Jodi D. Hoffman, Dorothy Warburton, Lauren Margolin, David J. Harris, Omar A. Abdul-Rahman, Ineke van der Burgt, Benjamin Currall, Monika Weisz Hubshman, Marjolijn C.J. Jongmans, Roberto T. Zori, William Lawless, Cynthia Lim, Andrea Hanson-Kahn, Vamsee Pillalamarri, Ken Corning, Tamara Mason, Yu An, Pino J. Poddighe, Susan P. Pauker, Cinthya J Zepeda Mendoza, Fowzan S. Alkuraya, Mira Irons, Sandra Janssens, Ranad Shaheen, Kathleen A. Leppig, Erica Spiegel, Chester W. Brown, Cynthia C. Morton, Filip Roelens, Ron Hochstenbach, Tamison Jewett, James F. Gusella, John P. Johnson, Brett H. Graham, Björn Menten, Annelies Dheedene, Rosamund Hill, Eva H. Brilstra, Alex V. Levin, Carlo Marcelis, Anna Wilson, A. Micheil Innes, Matthew A. Deardorff, Marc D'Hooghe, Elizabeth Beyer, Katy Phelan, Jayla Ruliera, Carrie Hanscom, Mark A. Hayden, Debra Rita, Edward J. Lose, Poornima Manavalan, Jerome Korzelius, Susan Wiley, Harrison Brand, Matthew R. Stone, Diane Lucente, Markus J. van Roosmalen, Tammy Kammin, Rebecca Sparkes, Patrick Rump, Stephen G. Kahler, Graciela Moya, Bregje W.M. van Bon, Blair Stevens, Eric C. Liao, Karen W. Gripp, Yves Lacassie, Dawn L. Earl, Erik C. Thorland, Linda M. Reis, Andrea L. Gropman, Jonathan A. Bernstein, Ian Blumenthal, Mary-Anne Anderson, Hong Li

المساهمون: Erasmus MC other, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: Nature Genetics, 49(1), 36-45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Male, INTELLECTUAL DISABILITY, Autism, Genome-wide association study, 030105 genetics & heredity, OF-FUNCTION MUTATIONS, balanced chromosomal abnormalities (BCAs), MEF2C, Genetics, Gene Rearrangement, Cytogenetic Abnormalities, Chromothripsis, DEVELOPMENTAL DELAY, Inversion, karyotypes, Microdeletion syndrome, Doenças Genómicas, Structural Variation, Medical genetics, Female, Topologically Associated Domain (TAD), Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Genetic Markers, medicine.medical_specialty, Human Congenital Anomalies, MICRODELETION SYNDROME, Translocation, Genomics, Biology, Article, Congenital Abnormalities, Structural variation, 03 medical and health sciences, Cytogenetics, Intellectual Disability, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Chromosome Aberrations, Whole-genome sequencing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHROMOSOME REARRANGEMENTS, karyotypes, balanced chromosomal abnormalities (BCAs), Whole-genome sequencing, AUTISM SPECTRUM DISORDER, CANCER GENOMES, Gene rearrangement, Balanced Chromosomal Abnormality, Doenças Genéticas, STRUCTURAL VARIATION, 030104 developmental biology, Congenital Anomaly, SEVERE MENTAL-RETARDATION, DE-NOVO MUTATIONS, Genome-Wide Association Study

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5007f204ae92a2e6bbed6b2be1af11
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c

المؤلفون: Ian Blumenthal, Bernie Devlin, Joshua Z. Levin, Carl Ernst, Vanessa C. Wheeler, Ashok Ragavendran, Kathryn Roeder, Poornima Manavalan, Aarathi Sugathan, Serkan Erdin, Michael E. Talkowski, Lambertus Klei, James F. Gusella, Jolene R. Guide, Julian Q. Zhou

المصدر: The American Journal of Human Genetics. 94:870-883

مصطلحات موضوعية: Male, DNA Copy Number Variations, Genotype, Transcription, Genetic, genetic structures, Genome-wide association study, Biology, Article, MECP2, Mice, 03 medical and health sciences, EHMT1, 0302 clinical medicine, Intellectual Disability, Chromosome Duplication, Gene duplication, Genetics, Animals, Humans, Genetics(clinical), Autistic Disorder, Child, Gene, Genetics (clinical), 030304 developmental biology, Cerebral Cortex, 0303 health sciences, Dosage compensation, Sequence Analysis, RNA, FMR1, Phenotype, Pedigree, Female, Chromosome Deletion, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7833441303be8c82a6499f606b8bb3d
https://doi.org/10.1016/j.ajhg.2014.05.004

المؤلفون: Ashok Ragavendran, Marcy E. MacDonald, Ihn Sik Seong, James F. Gusella, Peter J. Park, Ravi Vijayvargia, Nicole Solomos, Sonia M Vallabh, Serkan Erdin, Michael E. Talkowski, Poornima Manavalan, Marta Biagioli, Eric M. Mendenhall, Yijing Zhang, Fatih Ozsolak, Francesco Ferrari, Jong-Min Lee

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Chromatin Immunoprecipitation, Huntingtin, Genotype, Mice, Transgenic, Nerve Tissue Proteins, Transgenic, Histones, Mice, Alleles, Animals, Chromatin, Chromatin Assembly and Disassembly, Cluster Analysis, Embryonic Stem Cells, Gene Deletion, Gene Expression Regulation, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Neural Stem Cells, Nuclear Proteins, Polycomb Repressive Complex 2, Mutation, Trinucleotide Repeat Expansion, Genetics, Genetics (clinical), Molecular Biology, mental disorders, Huntingtin Protein, biology, General Medicine, Articles, Polyglutamine tract, nervous system diseases, Histone, nervous system, biology.protein, H3K4me3, PRC2, Chromatin immunoprecipitation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfc7c29b2a8566d7a6a6b35bff82e5e7
https://europepmc.org/articles/PMC4383859/

المؤلفون: Steven D. Sheridan, Stephen J. Haggarty, Marta Biagioli, Serkan Erdin, James F. Gusella, Aarathi Sugathan, Christelle Golzio, Nicholas Katsanis, Michael E. Talkowski, Diane Lucente, Poornima Manavalan, Alexei Stortchevoi, Manolis Kellis, Judith H. Miles, Ian Blumenthal, Ashok Ragavendran, Harrison Brand

مصطلحات موضوعية: Heterozygote, Chromodomain, Neural Stem Cells, Risk Factors, Neoplasms, Transcriptional regulation, Animals, Humans, Gene Regulatory Networks, Gene, Zebrafish, Genetics, Neurons, Multidisciplinary, Binding Sites, Genome, biology, Sequence Analysis, RNA, Gene Expression Profiling, DNA Helicases, Gene Expression Regulation, Developmental, Zebrafish Proteins, biology.organism_classification, Axons, Chromatin, Megalencephaly, ChIP-sequencing, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, PNAS Plus, Child Development Disorders, Pervasive, Mutation, Neuron differentiation, Axon guidance, Software, Protein Binding, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b98fc23caa6b0601577f7411fb6cfea
https://europepmc.org/articles/PMC4210312/

المؤلفون: Clemer Abad, Derek J. C. Tai, Yu An, Serkan Erdin, Catarina M. Seabra, Parisa Razaz, Ashok Ragavendran, Patrícia Maciel, Poornima Manavalan, Celine E. F. De Esch, James F. Gusella, Tatsiana Aneichyk, Alexei Stortchevoi, Michael E. Talkowski, Juan I. Young

المصدر: Molecular Autism
Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: NDD, Mouse, Transcription, Genetic, Autism Spectrum Disorder, Methyl-CpG-Binding Protein 2, Induced Pluripotent Stem Cells, Mice, Transgenic, Biology, lcsh:RC346-429, Cell Line, Transcriptome, 03 medical and health sciences, Mice, 0302 clinical medicine, Developmental Neuroscience, Gene expression, medicine, Animals, Humans, Transcriptomics, Molecular Biology, Gene, lcsh:Neurology. Diseases of the nervous system, Exome sequencing, 030304 developmental biology, Neurons, 0303 health sciences, Gene knockdown, Research, Brain, Gene Expression Regulation, Developmental, Cell Differentiation, Human brain, Human genetics, Psychiatry and Mental health, Disease Models, Animal, medicine.anatomical_structure, CRISPR, Gene Targeting, Mutation, MBD5, CRISPR-Cas Systems, Haploinsufficiency, Neuroscience, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43df0709555dba424f20cb9abfeec03