Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Vorstman Jas"'
Autor:
Tara Goodale, Wendy Roberts, Jason P. Lerch, Bridget A. Fernandez, Melissa T. Carter, Vorstman Jas, Flanagan J, Bhooma Thiruvahindrapuram, Lonnie Zwaigenbaum, Jennifer Crosbie, Paul D. Arnold, Christian R. Marshall, Drmic I, Muhammad Faheem, Rohan V. Patel, Russell Schachar, Jennifer L. Howe, Kozue Samler, Stephen W. Scherer, Lu C, Rob Nicolson, Janet A. Buchanan, Edward J Higginbotham, Tara Paton, Mayada Elsabbagh, Chan Ajs, Stelios Georgiades, Peter Szatmari, Cheryl Cytrynbaum, Bahareh A. Mojarad, Daniele Merico, Sylvia Lamoureux, Evdokia Anagnostou, Barbara Kellam, Xudong Liu, Dimitri J. Stavropoulos, Christie L. Burton, Brett Trost, Ny Hoang, MacDonald, Young Ej, Anne S. Bassett, Heung T, Worrawat Engchuan, Wang X, Richard F. Wintle, Gregory A. Costain, Yuen Rkc, Marc Woodbury-Smith, Maian Roifman, Giovanna Pellecchia, Susan Walker, David R. Rosenberg, John Wei, Rosanna Weksberg, Mehdi Zarrei, Miron K, Wang T, Gregory L. Hanna, Marsha Speevak
Publikováno v:
Paediatrics Publications
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-13 (2019)
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-13 (2019)
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a786610f389afd143c4d95731aeb72e
https://ir.lib.uwo.ca/context/paedpub/article/2471/viewcontent/s41525_019_0098_3.pdf
https://ir.lib.uwo.ca/context/paedpub/article/2471/viewcontent/s41525_019_0098_3.pdf
Autor:
Gur, RE, Bassett, AS, McDonald-McGinn, DM, Bearden, CE, Chow, E, Emanuel, BS, Owen, M, Swillen, A, Van Den Bree, Marianne Bernadette, Vermeesch, J, Vorstman, JAS, Warren, S, Lehner, T, Morrow, B, Niarchou, Maria
Rare copy number variants contribute significantly to the risk for schizophrenia, with the\ud 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome\ud (22q11DS) have an estimated 25-fold increased risk for schizophreni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::378ade628b1f785b1eee1e5e6075b020
Autor:
Anney, RJL, Ripke, S, Anttila, V, Grove, J, Holmans, P, Huang, H, Klei, L, Lee, PH, Medland, SE, Neale, B, Robinson, E, Weiss, LA, Zwaigenbaum, L, Yu, TW, Wittemeyer, K, Willsey, AJ, Wijsman, EM, Werge, T, Wassink, TH, Waltes, R, Walsh, CA, Wallace, S, Vorstman, JAS, Vieland, VJ, Vicente, AM, Vanengeland, H, Tsang, K, Thompson, AP, Szatmari, P, Svantesson, O, Steinberg, S, Stefansson, K, Stefansson, H, State, MW, Soorya, L, Silagadze, T, Scherer, SW, Schellenberg, GD, Sandin, S, Sanders, SJ, Saemundsen, E, Rouleau, GA, Rogé, B, Roeder, K, Roberts, W, Reichert, J, Reichenberg, A, Rehnström, K, Regan, R, Poustka, F, Poultney, CS, Piven, J, Pinto, D, Pericak-Vance, MA, Pejovic-Milovancevic, M, Pedersen, MG, Pedersen, CB, Paterson, AD, Parr, JR
Publikováno v:
Anney, RJL; Ripke, S; Anttila, V; Grove, J; Holmans, P; Huang, H; et al.(2017). Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Molecular Autism, 8(1). doi: 10.1186/s13229-017-0137-9. UCSF: Retrieved from: http://www.escholarship.org/uc/item/9kd189vf
© 2017 The Author(s). Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::669870b3364dbdbb306a1a440276d3de
http://www.escholarship.org/uc/item/9kd189vf
http://www.escholarship.org/uc/item/9kd189vf
Autor:
Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J
Publikováno v:
Human molecular genetics, vol 21, iss 21
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive pic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7a8821b5fe3a9bd319c1f760c35e4ae0
https://escholarship.org/uc/item/7452m9z1
https://escholarship.org/uc/item/7452m9z1
Akademický článek
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Autor:
Sønderby, I.E., Ching, CRK, Thomopoulos, S.I., van der Meer, D., Sun, D., Villalon-Reina, J.E., Agartz, I., Amunts, K., Arango, C., Armstrong, N.J., Ayesa-Arriola, R., Bakker, G., Bassett, A.S., Boomsma, D.I., Bülow, R., Butcher, N.J., Calhoun, V.D., Caspers, S., Chow, EWC, Cichon, S., Ciufolini, S., Craig, M.C., Crespo-Facorro, B., Cunningham, A.C., Dale, A.M., Dazzan, P., de Zubicaray, G.I., Djurovic, S., Doherty, J.L., Donohoe, G., Draganski, B., Durdle, C.A., Ehrlich, S., Emanuel, B.S., Espeseth, T., Fisher, S.E., Ge, T., Glahn, D.C., Grabe, H.J., Gur, R.E., Gutman, B.A., Haavik, J., Håberg, A.K., Hansen, L.A., Hashimoto, R., Hibar, D.P., Holmes, A.J., Hottenga, J.J., Hulshoff Pol, H.E., Jalbrzikowski, M., Knowles, EEM, Kushan, L., Linden, DEJ, Liu, J., Lundervold, A.J., Martin-Brevet, S., Martínez, K., Mather, K.A., Mathias, S.R., McDonald-McGinn, D.M., McRae, A.F., Medland, S.E., Moberget, T., Modenato, C., Monereo Sánchez, J., Moreau, C.A., Mühleisen, T.W., Paus, T., Pausova, Z., Prieto, C., Ragothaman, A., Reinbold, C.S., Reis Marques, T., Repetto, G.M., Reymond, A., Roalf, D.R., Rodriguez-Herreros, B., Rucker, J.J., Sachdev, P.S., Schmitt, J.E., Schofield, P.R., Silva, A.I., Stefansson, H., Stein, D.J., Tamnes, C.K., Tordesillas-Gutiérrez, D., Ulfarsson, M.O., Vajdi, A., van 't Ent, D., van den Bree, MBM, Vassos, E., Vázquez-Bourgon, J., Vila-Rodriguez, F., Walters, G.B., Wen, W., Westlye, L.T., Wittfeld, K., Zackai, E.H., Stefánsson, K., Jacquemont, S., Thompson, P.M., Bearden, C.E., Andreassen, O.A.
Publikováno v:
Human brain mapping, vol. 43, no. 1, pp. 300-328
The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1900::e7b7218937f1b78df95ee7011cc7ff11
https://serval.unil.ch/resource/serval:BIB_5F029CA6DCDE.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_5F029CA6DCDE.P001/REF.pdf
A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome.
Autor:
Selten I; Institute for Language Sciences, Utrecht University, Utrecht, The Netherlands.; Department of Psychiatry and Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatrics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Dutch Autism & ADHD Research Center, Department of psychology, University of Amsterdam, Amsterdam, The Netherlands., Blok J; Department of Psychiatry and Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Boerma T; Institute for Language Sciences, Utrecht University, Utrecht, The Netherlands.; Department of Psychiatry and Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatrics, Wilhelmina Children's Hospital, Utrecht, The Netherlands., Djelantik AAAMJ; Department of Psychiatry and Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Houben M; Department of Pediatrics, Wilhelmina Children's Hospital, Utrecht, The Netherlands., Wijnen F; Institute for Language Sciences, Utrecht University, Utrecht, The Netherlands., Zinkstok J; Department of Psychiatry and Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands.; Child and Adolescent Psychiatry, Karakter, Nijmegen, The Netherlands., Vorstman JAS; Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, Canada., Fiksinski AM; Department of Psychiatry and Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatrics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Department of Psychology, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
Publikováno v:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2024 Oct 22. Date of Electronic Publication: 2024 Oct 22.
Autor:
de Reuver S; Department of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands. s.dereuver-4@umcutrecht.nl., Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada., Safarian N; Department of Psychiatry, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada., Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada., Vorstman JAS; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Psychiatry, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada., Castelein RM; Department of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Breetvelt EJ; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Elemi.Breetvelt@sickkids.ca.; Department of Psychiatry, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. Elemi.Breetvelt@sickkids.ca.
Publikováno v:
Spine deformity [Spine Deform] 2024 Oct 15. Date of Electronic Publication: 2024 Oct 15.
Autor:
Baribeau DA; Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada; The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address: danielle.baribeau@mail.utoronto.ca., Vorstman JAS; The Hospital for Sick Children, Toronto, Ontario, Canada., Pearson TS; Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio.
Publikováno v:
Journal of the American Academy of Child and Adolescent Psychiatry [J Am Acad Child Adolesc Psychiatry] 2024 Jun; Vol. 63 (6), pp. 571-573. Date of Electronic Publication: 2024 Mar 07.
Autor:
van der Heijden-Hobus IMW; Department of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Janssen-Cilag B.V., Breda, The Netherlands., Rosema BS; Department of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Vorstman JAS; Department of Psychiatry, Hospital for Sick Children, Toronto, Ontario, Canada.; SickKids Research Institute & Genetics & Genome Biology Program, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Kas MJH; Groningen Institute for Evolutionary Life Sciences, University of Groningen, Groningen, The Netherlands., Franke SK; Department of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Boonstra N; Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; NHL/Stenden, University of Applied Sciences, Leeuwarden, The Netherlands.; KieN VIP Mental Health Care Services, Leeuwarden, The Netherlands., Sommer IEC; Department of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Publikováno v:
Early intervention in psychiatry [Early Interv Psychiatry] 2024 Jun; Vol. 18 (6), pp. 415-424. Date of Electronic Publication: 2023 Nov 29.