المؤلفون: Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: NAA10, X-linked, XLID, Microcephaly, Intellectual disability, N-alpha-acetyltransferase, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-019-0803-1Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/93e5462b61b849f39b3bbe9118429fd6Test

المؤلفون: Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia MS, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, DDD Study, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Care4Rare Canada Consortium, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, CAUSES Study, Martin, Martin G, Martinez-Agosto, Julian A, Undiagnosed Diseases Network, Nelson, Stan F, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, Stuurman, KE

المصدر: Science advances. 6(49)

مصطلحات موضوعية: DDD Study, Care4Rare Canada Consortium, CAUSES Study, Undiagnosed Diseases Network, Cancer, Rare Diseases, Human Genome, Pediatric Research Initiative, Genetics, Biotechnology, 2.1 Biological and endogenous factors

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6fw0s88wTest

المؤلفون: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

مصطلحات موضوعية: ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophy

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2023022728799Test

المؤلفون: Singh, Tarjinder, Kurki, Mitja I, Curtis, David, Purcell, Shaun M, Crooks, Lucy, McRae, Jeremy, Suvisaari, Jaana, Chheda, Himanshu, Blackwood, Douglas, Breen, Gerome, Pietiläinen, Olli, Gerety, Sebastian S, Ayub, Muhammad, Blyth, Moira, Cole, Trevor, Collier, David, Coomber, Eve L, Craddock, Nick, Daly, Mark J, Danesh, John, DiForti, Marta, Foster, Alison, Freimer, Nelson B, Geschwind, Daniel, Johnstone, Mandy, Joss, Shelagh, Kirov, Georg, Körkkö, Jarmo, Kuismin, Outi, Holmans, Peter, Hultman, Christina M, Iyegbe, Conrad, Lönnqvist, Jouko, Männikkö, Minna, McCarroll, Steve A, McGuffin, Peter, McIntosh, Andrew M, McQuillin, Andrew, Moilanen, Jukka S, Moore, Carmel, Murray, Robin M, Newbury-Ecob, Ruth, Ouwehand, Willem, Paunio, Tiina, Prigmore, Elena, Rees, Elliott, Roberts, David, Sambrook, Jennifer, Sklar, Pamela, St Clair, David, Veijola, Juha, Walters, James TR, Williams, Hywel, Swedish Schizophrenia Study, INTERVAL Study, DDD Study, UK10 K Consortium, Sullivan, Patrick F, Hurles, Matthew E, O'Donovan, Michael C, Palotie, Aarno, Owen, Michael J, Barrett, Jeffrey C

المصدر: Nature neuroscience. 19(4)

مصطلحات موضوعية: Swedish Schizophrenia Study, INTERVAL Study, DDD Study, UK10 K Consortium, Humans, Genetic Predisposition to Disease, Histone-Lysine N-Methyltransferase, Case-Control Studies, Cohort Studies, Schizophrenia, Finland, Female, Male, Genetic Variation, Genetic Association Studies, Neurodevelopmental Disorders, Genetics, Brain Disorders, Human Genome, Serious Mental Illness, Mental Health, Clinical Research, 2.1 Biological and endogenous factors, Neurology & Neurosurgery, Neurosciences, Cognitive Sciences, Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3mn1331gTest

المؤلفون: Sinéad O’Brien, Elise Ng-Cordell, The DDD Study, Duncan E. Astle, Gaia Scerif, Kate Baker

المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: STXBP1, Epilepsy, Intellectual disability, Language, Social, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s11689-019-9278-9Test; https://doaj.org/toc/1866-1947Test; https://doaj.org/toc/1866-1955Test

الوصول الحر: https://doaj.org/article/e255d994dd0a4359b8efa7d3f4c9a3dbTest

المؤلفون: Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: TCF20, 22q13, Neurodevelopmental disorders, Smith–Magenis syndrome, Haploinsufficiency, Loss-of-function variants, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13073-019-0623-0Test; https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/d24638f2efce49c3b8ea400cc414438dTest

المؤلفون: Wright, Caroline F, Eberhardt, Ruth Y, Constantinou, Panayiotis, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V, DDD Study

مصطلحات موضوعية: developmental disorders, exome sequencing, genomic medicine, reanalysis, variant interpretation, Databases, Genetic, Exome, Gene Frequency, Humans

وصف الملف: application/pdf; application/zip; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/318446Test

الإتاحة: https://doi.org/10.17863/CAM.65560Test
https://www.repository.cam.ac.uk/handle/1810/318446Test

المؤلفون: Vissers, Lisenka E L M, Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L, Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E V, Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J, Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G, Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, DDD Study, Raymond, F Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E, Murrell, Jill R, Wood, Kathleen, Cho, Megan T, van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P M

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)

مصطلحات موضوعية: Alleles, Developmental Disabilities, Female, Gene Expression, Genetic Variation, Haploinsufficiency, Heterozygote, Humans, Male, Nervous System Malformations, Neurodevelopmental Disorders, Nuclear Receptor Subfamily 4, Group A, Member 2, Phenotype, Protein Stability, RNA, Receptors, CCR4, Transcription Factors, CCR4-NOT complex, CNOT1, Drosophila, de novo mutations, developmental delay, exome sequencing, genomics, intellectual disability, neurodevelopment

العلاقة: boreal:260411; http://hdl.handle.net/2078.1/260411Test; info:pmid/32553196; urn:ISSN:0002-9297; urn:EISSN:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.05.017Test
http://hdl.handle.net/2078.1/260411Test

المؤلفون: DDD Study, Konrad, Enrico D. H., Nardini, Niels, Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno

المساهمون: Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator

مصطلحات موضوعية: CTCF, neurodevelopmental disorders, Drosophila melanogaster, intellectual disability, chromatin organization, DE-NOVO MUTATIONS, GENE ONTOLOGY, EXPRESSION, DROSOPHILA, HUMANS, INACTIVATION, DATABASE, LIBRARY, TOOL, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: We thank all individuals and families for participating in this study. We especially thank Laila Distel and Christine Suchy for excellent technical assistance; Andre Reis, Arif Ekici, and Fulvia Ferrazzi at the next-generation sequencing core facility at the Institute of Human Genetics in Erlangen; and Felix Engel for help with the confocal microscope, which was supported by the German Research Foundation (INST 410/91-1 FUGG). C.Z. is supported by grants from the German Research Foundation (ZW184/1-2, ZW184/3-1, and 270949263/GRK2162) and by the Interdisciplinary Center for Clinical Research in Erlangen (E26 and ELAN-Fonds). H.V.E. is a clinical investigator of FWO Vlaanderen. K.O. and S.P. received support from Estonian Research Council grants PUT355, PRG471, and PUTJD827. M.H.W. is supported by T32GM007748. This study makes use of data generated by the DECIPHER community. Funding for the project was provided by the Wellcome Trust. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. The Broad Center for Mendelian Genomics (UM1 HG008900) is funded by the National Human Genome Research Institute with supplemental funding provided by the National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program and the National Eye Institute. Please also see Supplementary Acknowledgements.; DDD Study , Konrad , E D H , Nardini , N , Kuismin , O , Kurki , M I , Pietiläinen , O & Palotie , A 2019 , ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ' , Genetics In medicine , vol. 21 , no. 12 , pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-zTest; ORCID: /0000-0002-2527-5874/work/97266242; ORCID: /0000-0003-4387-1861/work/158617350; http://hdl.handle.net/10138/310447Test; d68437e4-8cd3-4eb8-baa7-d7087e0ca507; 000500923300010

الإتاحة: http://hdl.handle.net/10138/310447Test

المؤلفون: Jackson, Adam, Ward, Heather, Bromley, Rebecca Louise, Deshpande, Charulata, Vasudevan, Pradeep, Scurr, Ingrid, Dean, John, Shannon, Nora, Berg, Jonathon, Holder, Susan, Baralle, Diana, Clayton-Smith, Jill, DDD Study

مصطلحات موضوعية: Drug therapy

وصف الملف: text/html

العلاقة: http://adc.bmj.com/cgi/content/short/105/4/384Test; http://dx.doi.org/10.1136/archdischild-2018-316547Test

الإتاحة: https://doi.org/10.1136/archdischild-2018-316547Test
http://adc.bmj.com/cgi/content/short/105/4/384Test