المؤلفون: Wen, J, Trost, B, Engchuan, W, Halvorsen, M, Pallotto, LM, Mitina, A, Ancalade, N, Farrell, M, Backstrom, I, Guo, KY, Pellecchia, G, Thiruvahindrapuram, B, Giusti-Rodriguez, P, Rosen, JD, Li, Y, Won, HJ, Magnusson, PKE, Gyllensten, U, Bassett, AS, Hultman, CM, Sullivan, PF, Yuen, RKC, Szatkiewicz, JP

المصدر: Molecular psychiatry. 28(2):475-482

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151226968

المؤلفون: Wright, GEB, Collins, JA, Kay, C, McDonald, C, Dolzhenko, E, Xia, QW, Becanovic, K, Drogemoller, BI, Semaka, A, Nguyen, CM, Trost, B, Richards, F, Bijlsma, EK, Squitieri, F, Ross, CJD, Scherer, SW, Eberle, MA, Yuen, RKC, Hayden, MR

المصدر: American journal of human genetics. 104(6):1116-1126

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141080988

المؤلفون: Yuen, RKC, Merico, D, Cao, HZ, Pellecchia, G, Alipanahi, B, Thiruvahindrapuram, B, Tong, X, Sun, YH, Cao, DD, Zhang, T, Wu, XL, Jin, X, Zhou, Z, Liu, XM, Nalpathamkalam, T, Walker, S, Howe, JL, Wang, ZZ, MacDonald, JR, Chan, AJS, D'Abate, L, Deneault, E, Siu, MT, Tammimies, K, Uddin, M, Zarrei, M, Wang, MB, Li, YR, Wang, J, Yang, HM, Bookman, M, Bingham, J, Gross, SS, Loy, D, Pletcher, M, Marshall, CR, Anagnostou, E, Zwaigenbaum, L, Weksberg, R, Fernandez, BA, Roberts, W, Szatmari, P, Glazer, D, Frey, BJ, Ring, RH, Xu, X, Scherer, SW

المصدر: NPJ genomic medicine. 1:160271-1602710

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136895670

المؤلفون: Chan, AJS, Engchuan, W, Reuter, MS, Wang, ZZ, Thiruvahindrapuram, B, Trost, B, Nalpathamkalam, T, Negrijn, C, Lamoureux, S, Pellecchia, G, Patel, R, Sung, WWL, MacDonald, JR, Howe, JL, Vorstman, J, Sondheimer, N, Takahashi, N, Miles, JH, Anagnostou, E, Tammimies, K, Zarrei, M, Merico, D, Stavropoulos, DJ, Yuen, RKC, Fernandez, BA, Scherer, SW

المصدر: Nature communications. 13(1):6463

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151229801

المؤلفون: Zai, G, Alberry, B, Arlothn, J, Banlaki, Z, Bares, C, Boot, E, Camilo, C, Chadha, K, Chen, Q, Cole, CB, Cost, KT, Crow, M, Ekpor, I, Fischer, SB, Flatau, L, Gagliano, S, Kirli, U, Kukshal, P, Labrie, V, Lang, MR, Lett, TA, Maffioletti, E, Maier, R, Mihaljevic, M, Mittal, K, Monson, ET, O'Brien, NL, Ostergaard, SD, Ovenden, E, Patel, S, Peterson, RE, Pouget, JG, Rovaris, DL, Seaman, L, Shankarappa, B, Tsetsos, F, Vereczkei, A, Wang, CY, Xulu, K, Yuen, RKC, Zhao, JJ, Zai, CC, Kennedy, JL

المصدر: Psychiatric genetics. 26(6):229-257

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134563811

المؤلفون: Lionel, AC, Tammimies, K, Vaags, AK, Rosenfeld, JA, Ahn, JW, Merico, D, Noor, A, Runke, CK, Pillalamarri, VK, Carter, MT, Gazzellone, MJ, Thiruvahindrapuram, B, Fagerberg, C, Laulund, LW, Pellecchia, G, Lamoureux, S, Deshpande, C, Clayton-Smith, J, White, AC, Leather, S, Trounce, J, Bedford, HM, Hatchwell, E, Eis, PS, Yuen, RKC, Walker, S, Uddin, M, Geraghty, MT, Nikkel, SM, Tomiak, EM, Fernandez, BA, Soreni, N, Crosbie, J, Arnold, PD, Schachar, RJ, Roberts, W, Paterson, AD, So, J, Szatmari, P, Chrysler, C, Woodbury-Smith, M, Lowry, RB, Zwaigenbaum, L, Mandyam, D, Wei, J, MacDonald, JR, Howe, JL, Nalpathamkalam, T, Wang, ZZ, Tolson, D, Cobb, DS, Wilks, TM, Sorensen, MJ, Bader, PI, An, Y, Wu, BL, Musumeci, SA, Romano, C, Postorivo, D, Nardone, AM, Della Monica, M, Scarano, G, Zoccante, L, Novara, F, Zuffardi, O, Ciccone, R, Antona, V, Carella, M, Zelante, L, Cavalli, P, Poggiani, C, Cavallari, U, Argiropoulos, B, Chernos, J, Brasch-Andersen, C, Speevak, M, Fichera, M, Ogilvie, CM, Shen, YP, Hodge, JC, Talkowski, ME, Stavropoulos, DJ, Marshall, CR, Scherer, SW

المصدر: Human molecular genetics. 23(10):2752-2768

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:128745380

المؤلفون: D'Abate, L, Walker, S, Yuen, RKC, Tammimies, K, Buchanan, JA, Davies, RW, Thiruvahindrapuram, B, Wei, J, Brian, J, Bryson, SE, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Smith, IM, Stone, WL, Warren, ZE, Young, G, Zwaigenbaum, L, Scherer, SW

المصدر: Nature communications. 10(1)

مصطلحات موضوعية: Humans, Genetic Predisposition to Disease, Risk Factors, Pedigree, Siblings, Genomics, Phenotype, Genome, Human, Child, Preschool, Family Health, Female, Male, DNA Copy Number Variations, Autism Spectrum Disorder, Child, Preschool, Genome, Human

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4mb2q3tf

المؤلفون: Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, Jamra, R

المصدر: Brain : a journal of neurology. 142(11)

مصطلحات موضوعية: Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

URL الوصول: https://escholarship.org/uc/item/3hj2q3k2

المؤلفون: D’Abate, L, Walker, S, Yuen, RKC, Tammimies, K, Buchanan, JA, Davies, RW, Thiruvahindrapuram, B, Wei, J, Brian, J, Bryson, SE, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Smith, IM, Stone, WL, Warren, ZE, Young, G, Zwaigenbaum, L, Scherer, SW

المصدر: Nature Communications. 10(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Brain Disorders, Clinical Research, Mental Health, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Child, Preschool, DNA Copy Number Variations, Family Health, Female, Genetic Predisposition to Disease, Genome, Human, Genomics, Humans, Male, Pedigree, Phenotype, Risk Factors, Siblings

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4mb2q3tf
https://escholarship.org/content/qt4mb2q3tf/qt4mb2q3tf.pdf

المؤلفون: Dolzhenko, E, Bennett, MF, Richmond, PA, Trost, B, Chen, S, van Vugt, JJFA, Nguyen, C, Narzisi, G, Gainullin, VG, Gross, AM, Lajoie, BR, Taft, RJ, Wasserman, WW, Scherer, SW, Veldink, JH, Bentley, DR, Yuen, RKC, Bahlo, M, Eberle, MA

Relation: pii: 10.1186/s13059-020-02017-z; Dolzhenko, E., Bennett, M. F., Richmond, P. A., Trost, B., Chen, S., van Vugt, J. J. F. A., Nguyen, C., Narzisi, G., Gainullin, V. G., Gross, A. M., Lajoie, B. R., Taft, R. J., Wasserman, W. W., Scherer, S. W., Veldink, J. H., Bentley, D. R., Yuen, R. K. C., Bahlo, M. & Eberle, M. A. (2020). ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. GENOME BIOLOGY, 21 (1), https://doi.org/10.1186/s13059-020-02017-z.; http://hdl.handle.net/11343/246361

الاتاحة: http://hdl.handle.net/11343/246361

المؤلفون: Schaaf, CP, Betancur, C, Yuen, RKC, Parr, JR, Skuse, DH, Gallagher, L, Bernier, RA, Buchanan, JA, Buxbaum, JD, Chen, C-A, Dies, KA, Elsabbagh, M, Firth, HV, Frazier, T, Hoang, N, Howe, J, Marshall, CR, Michaud, JL, Rennie, O, Szatmari, P, Chung, WK, Bolton, PF, Cook, EH, Scherer, SW, Vorstman, JAS

المصدر: Nature Reviews Genetics , 21 (6) pp. 367-376. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10100743/3/Skuse_A%20framework%20for%20an%20evidence-based%20gene%20list%20relevant%20to%20autism%20spectrum%20disorder_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10100743/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10100743/3/Skuse_A%20framework%20for%20an%20evidence-based%20gene%20list%20relevant%20to%20autism%20spectrum%20disorder_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10100743/

المؤلفون: Uddin, M, Pellecchia, G, Thiruvahindrapuram, B, D'Abate, L, Merico, D, Chan, A, Zarrei, M, Tammimies, K, Walker, S, Gazzellone, MJ, Nalpathamkalam, T, Yuen, RKC, Devriendt, K, Mathonnet, G, Lemyre, E, Nizard, S, Shago, M, Joseph-George, AM, Noor, A, Carter, MT, Yoon, G, Kannu, P, Tihy, F, Thorland, EC, Marshall, CR, Buchanan, JA, Speevak, M, Stavropoulos, DJ, Scherer, SW

المصدر: Scientific reports. 6:28663

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133841345

المؤلفون: Woodbury-Smith, M, Paterson, AD, Thiruvahindrapduram, B, Lionel, AC, Marshall, CR, Merico, D, Fernandez, BA, Duku, E, Sutcliffe, JS, O'Conner, I, Chrysler, C, Thompson, A, Kellam, B, Tammimies, K, Walker, S, Yuen, RKC, Uddin, M, Howe, JL, Parlier, M, Whitten, K, Szatmari, P, Vieland, VJ, Piven, J, Scherer, SW

المصدر: Human genetics. 134(2):191-201

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130674659

المؤلفون: Tammimies, K, Marshall, CR, Walker, S, Kaur, G, Thiruvahindrapuram, B, Lionel, AC, Yuen, RKC, Uddin, M, Roberts, W, Weksberg, R, Woodbury-Smith, M, Zwaigenbaum, L, Anagnostou, E, Wang, ZZ, Wei, J, Howe, JL, Gazzellone, MJ, Lau, L, Sung, WWL, Whitten, K, Vardy, C, Crosbie, V, Tsang, B, D'Abate, L, Tong, WWL, Luscombe, S, Doyle, T, Carter, MT, Szatmari, P, Stuckless, S, Merico, D, Stavropoulos, DJ, Scherer, SW, Fernandez, BA

المصدر: JAMA. 314(9):895-903

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131884881

المؤلفون: Yuen, RKC, Thiruvahindrapuram, B, Merico, D, Walker, S, Tammimies, K, Hoang, N, Chrysler, C, Nalpathamkalam, T, Pellecchia, G, Liu, Y, Gazzellone, MJ, D'Abate, L, Deneault, E, Howe, JL, Liu, RSC, Thompson, A, Zarrei, M, Uddin, M, Marshall, CR, Ring, RH, Zwaigenbaum, L, Ray, PN, Weksberg, R, Carter, MT, Fernandez, BA, Roberts, W, Szatmari, P, Scherer, SW

المصدر: Nature medicine. 21(2):185-191

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130633390

المؤلفون: Woodbury-Smith M, Paterson AD, O'Connor I, Zarrei M, Yuen RKC, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P

المصدر: Journal of Neurodevelopmental Disorders, 11 June 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/249279; https://eprints.ncl.ac.uk/fulltext.aspx?url=249279/E62365B6-574A-4544-BB4D-2FF385444479.pdf&pub_id=249279

الاتاحة: https://eprints.ncl.ac.uk/249279

المؤلفون: De Rubeis, S, He, X, Goldberg, AP, Poultney, CS, Samocha, K, Cicek, AE, Kou, Y, Liu, L, Fromer, M, Walker, S, Singh, T, Klei, L, Kosmicki, J, Fu, SC, Aleksic, B, Biscaldi, M, Bolton, PF, Brownfeld, JM, Cai, JL, Campbell, NG, Carracedo, A, Chahrour, MH, Chiocchetti, AG, Coon, H, Crawford, EL, Crooks, L, Curran, SR, Dawson, G, Duketis, E, Fernandez, BA, Gallagher, L, Geller, E, Guter, SJ, Hill, RS, Ionita-Laza, I, Gonzalez, PJ, Kilpinen, H, Klauck, SM, Kolevzon, A, Lee, I, Lei, J, Lehtimaki, T, Lin, CF, Ma'ayan, A, Marshall, CR, McInnes, AL, Neale, B, Owen, MJ, Ozaki, N, Parellada, M, Parr, JR, Purcell, S, Puura, K, Rajagopalan, D, Rehnstrom, K, Reichenberg, A, Sabo, A, Sachse, M, Sanders, SJ, Schafer, C, Schulte-Ruther, M, Skuse, D, Stevens, C, Szatmari, P, Tammimies, K, Valladares, O, Voran, A, Wang, LS, Weiss, LA, Willsey, AJ, Yu, TW, Yuen, RKC, Cook, EH, Freitag, CM, Gill, M, Hultman, CM, Lehner, T, Palotie, A, Schellenberg, GD, Skiar, P, State, MW, Sutcliffe, JS, Walsh, CA, Scherer, SW, Zwick, ME, Barrett, JC, Cutler, DJ, Roeder, K, Devlin, B, Daly, MJ, Buxbaum, JD

المصدر: Nature. 515(7526):209

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130112455

المؤلفون: Uddin, M, Tammimies, K, Pellecchia, G, Alipanahi, B, Hui, PZ, Wang, ZZ, Pinto, D, Lau, L, Nalpathamkalam, T, Marshall, CR, Blencowe, BJ, Frey, BJ, Merico, D, Yuen, RKC, Scherer, SW

المصدر: Nature genetics. 46(7):742-747

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129272925

المؤلفون: 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

المصدر: Paediatrics Publications
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Microarray, lcsh:Medicine, Neurogenetics, Pathogenesis, Article, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Genetics, medicine, Attention deficit hyperactivity disorder, Copy-number variation, Molecular Biology, Genetics (clinical), Molecular medicine, business.industry, lcsh:R, Neurodevelopmental disorders, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, Autism spectrum disorder, Schizophrenia, Etiology, Medical genetics, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: 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

المؤلفون: Yuen RKC, Merico D, Bookman M, Howe JL, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJS, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WWL, Tsoi FJ, Wei J, Xu L, Tasse A-M, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW

المصدر: Nature Neuroscience, 29 March 2017

Relation: https://eprints.ncl.ac.uk/238261

الاتاحة: https://eprints.ncl.ac.uk/238261