المؤلفون: Feliciano, P, Daniels, AM, Green Snyder, LA, Beaumont, A, Camba, A, Esler, A, Gulsrud, AG, Mason, A, Gutierrez, A, Nicholson, A, Paolicelli, AM, McKenzie, AP, Rachubinski, AL, Stephens, AN, Simon, AR, Stedman, A, Shocklee, AD, Swanson, A, Finucane, B, Hilscher, BA, Hauf, B, O'Roak, BJ, McKenna, B, Robertson, BE, Rodriguez, B, Vernoia, BM, Van Metre, B, Bradley, C, Cohen, C, Erickson, CA, Harkins, C, Hayes, C, Lord, C, Martin, CL, Ortiz, C, Ochoa-Lubinoff, C, Peura, C, Rice, CE, Rosenberg, CR, Smith, CJ, Thomas, C, Taylor, CM, White, LC, Walston, CH, Amaral, DG, Coury, DL, Sarver, DE, Istephanous, D, Li, D, Nugyen, DC, Fox, EA, Butter, EM, Berry-Kravis, E, Courchesne, E, Fombonne, EJ, Hofammann, E, Lamarche, E, Wodka, EL, Matthews, ET, O'Connor, E, Palen, E, Miller, F, Dichter, GS, Marzano, G, Stein, G, Hutter, H, Kaplan, HE, Li, H, Lechniak, H, Schneider, HL, Zaydens, H, Arriaga, I, Gerdts, JA, Cubells, JF, Cordova, JM, Gunderson, J, Lillard, J, Manoharan, J, McCracken, JT, Michaelson, JJ, Neely, J, Orobio, J, Pandey, J, Piven, J, Scherr, J, Sutcliffe, JS, Tjernagel, J, Wallace, J, Callahan, K, Dent, K, Schweers, KA, Hamer, KE, Law, JK, Lowe, K, O'Brien, K, Smith, K, Pawlowski, KG, Pierce, KL, Roeder, K, Abbeduto, LJ

المصدر: Feliciano, P; Daniels, AM; Green Snyder, LA; Beaumont, A; Camba, A; Esler, A; et al.(2018). SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research. Neuron, 97(3), 488-493. doi: 10.1016/j.neuron.2018.01.015. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/7xj0j6cj

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::4b39911300428ce6db6d3dbf6ed9b320
http://www.escholarship.org/uc/item/7xj0j6cj

المؤلفون: Krupp, Dr, Barnard, Ra, Duffourd, Y, Evans, Sa, Mulqueen, Rm, Bernier, R, Rivière, Jb, Fombonne, E, O'Roak, Bj

المساهمون: Department of Molecular & Medical Genetics (Oregon Health & Science University, Portland), Oregon Health and Science University Portland (OHSU), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Department of Psychiatry and Behavioral Sciences, University of Washington, Department of Human Genetics Montréal, McGill University = Université McGill Montréal, Canada, Department of Psychiatry (Oregon Health & Science University, Portland), ANR-13-PDOC-0029,MOSAIC,Une approche génomique pour identifier des mutations postzygotiques responsables d'anomalies du développement évocatrices d'un mosaïcisme cutané(2013)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: autism spectrum disorder, exome, mosaicism, mutation, neurodevelopment, postzygotic, somatic, splicing, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/28867142; PUBMED: 28867142; PUBMEDCENTRAL: PMC5590950

الاتاحة: https://u-bourgogne.hal.science/hal-01625497
https://doi.org/10.1016/j.ajhg.2017.07.016

المؤلفون: Coe, BP, Witherspoon, K, Rosenfeld, JA, van Bon, BWM, Vulto-van Silfhout, AT, Bosco, P, Friend, KL, Baker, C, Buono, S, Vissers, LELM, Schuurs-Hoeijmakers, JH, Hoischen, A, Pfundt, R, Krumm, N, Carvill, GL, Li, D, Amaral, D, Brown, N, Lockhart, PJ, Scheffer, IE, Alberti, A, Shaw, M, Pettinato, R, Tervo, R, de Leeuw, N, Reijnders, MRF, Torchia, BS, Peeters, H, O'Roak, BJ, Fichera, M, Hehir-Kwa, JY, Shendure, J, Mefford, HC, Haan, E, Gecz, J, de Vries, BBA, Romano, C, Eichler, EE

Relation: pii: ng.3092; Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., Pfundt, R., Krumm, N., Carvill, G. L., Li, D., Amaral, D., Brown, N., Lockhart, P. J. ,. Eichler, E. E. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. NATURE GENETICS, 46 (10), pp.1063-1071. https://doi.org/10.1038/ng.3092.; http://hdl.handle.net/11343/268965

الاتاحة: http://hdl.handle.net/11343/268965

المؤلفون: Carvill, GL, Regan, BM, Yendle, SC, O'Roak, BJ, Lozovaya, N, Bruneau, N, Burnashev, N, Khan, A, Cook, J, Geraghty, E, Sadleir, LG, Turner, SJ, Tsai, M-H, Webster, R, Ouvrier, R, Damiano, JA, Berkovic, SF, Shendure, J, Hildebrand, MS, Szepetowski, P, Scheffer, IE, Mefford, HC

Relation: NHMRC/628952; NHMRC/1006110; NHMRC/546493; pii: ng.2727; Carvill, G. L., Regan, B. M., Yendle, S. C., O'Roak, B. J., Lozovaya, N., Bruneau, N., Burnashev, N., Khan, A., Cook, J., Geraghty, E., Sadleir, L. G., Turner, S. J., Tsai, M. -H., Webster, R., Ouvrier, R., Damiano, J. A., Berkovic, S. F., Shendure, J., Hildebrand, M. S. ,. Mefford, H. C. (2013). GRIN2A mutations cause epilepsy-aphasia spectrum disorders. NATURE GENETICS, 45 (9), pp.1073-+. https://doi.org/10.1038/ng.2727.; http://hdl.handle.net/11343/41806

الاتاحة: http://hdl.handle.net/11343/41806

المؤلفون: Carvill, GL, Heavin, SB, Yendle, SC, McMahon, JM, O'Roak, BJ, Cook, J, Khan, A, Dorschner, MO, Weaver, M, Calvert, S, Malone, S, Wallace, G, Stanley, T, Bye, AME, Bleasel, A, Howell, KB, Kivity, S, Mackay, MT, Rodriguez-Casero, V, Webster, R, Korczyn, A, Afawi, Z, Zelnick, N, Lerman-Sagie, T, Lev, D, Moller, RS, Gill, D, Andrade, DM, Freeman, JL, Sadleir, LG, Shendure, J, Berkovic, SF, Scheffer, IE, Mefford, HC

Relation: NHMRC/628952; NHMRC/1006110; pii: ng.2646; Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., Stanley, T., Bye, A. M. E., Bleasel, A., Howell, K. B., Kivity, S., Mackay, M. T., Rodriguez-Casero, V. ,. Mefford, H. C. (2013). Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. NATURE GENETICS, 45 (7), pp.825-U158. https://doi.org/10.1038/ng.2646.; http://hdl.handle.net/11343/41805

الاتاحة: http://hdl.handle.net/11343/41805

المؤلفون: Riviere, JB, Mirzaa, GM, O'Roak, BJ, Beddaoui, M, Alcantara, D, Conway, RL, St-Onge, J, Schwartzentruber, JA, Gripp, KW, Nikkel, SM, Worthylake, T, Sullivan, CT, Ward, TR, Butler, HE, Kramer, NA, Albrecht, B, Armour, CM, Armstrong, L, Caluseriu, O, Cytrynbaum, C, Drolet, BA, Innes, AM, Lauzon, JL, Lin, AE, Verheijen - Mancini, Grazia, Meschino, WS, Reggin, JD, Saggar, AK, Lerman-Sagie, T, Uyanik, G, Weksberg, R, Zirn, B, Beaulieu, CL, Majewski, J, Bulman, DE, O'Driscoll, M, Shendure, J, Graham, JM, Boycott, KM, Dobyns, WB

المصدر: Riviere , JB , Mirzaa , GM , O'Roak , BJ , Beddaoui , M , Alcantara , D , Conway , RL , St-Onge , J , Schwartzentruber , JA , Gripp , KW , Nikkel , SM , Worthylake , T , Sullivan , CT , Ward , TR , Butler , HE , Kramer , NA , Albrecht , B , Armour , CM , Armstrong , L , Caluseriu , O , Cytrynbaum , C , Drolet , BA , Innes , AM , Lauzon , JL , Lin , AE , Verheijen - Mancini ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/7a782c7e-154a-49f7-9d17-9a1c3084d668
https://doi.org/10.1038/ng.2331
http://hdl.handle.net/1765/57145

المؤلفون: Riviere, JB, van Bon, BWM, Hoischen, A, Kholmanskikh, SS, O'Roak, BJ, Gilissen, C (Christian), Gijsen, S, Sullivan, CT, Christian, SL, Abdul-Rahman, OA, Atkin, JF, Chassaing, N, Drouin-Garraud, V, Fry, AE, Fryns, JP, Gripp, KW, Kempers, M, Kleefstra, T, Verheijen - Mancini, Grazia, Nowaczyk, MJM, van Ravenswaaij-Arts, CMA, Roscioli, T, Marble, M, Rosenfeld, JA, Siu, VM, de Vries, BBA, Shendure, J, Verloes, A, Veltman, JA, Brunner, HG, Ross, ME, Pilz, DT, Dobyns, WB

المصدر: Riviere , JB , van Bon , BWM , Hoischen , A , Kholmanskikh , SS , O'Roak , BJ , Gilissen , C , Gijsen , S , Sullivan , CT , Christian , SL , Abdul-Rahman , OA , Atkin , JF , Chassaing , N , Drouin-Garraud , V , Fry , AE , Fryns , JP , Gripp , KW , Kempers , M , Kleefstra , T , Verheijen - Mancini , G , Nowaczyk , MJM , van Ravenswaaij-Arts , CMA , Roscioli , T , Marble , M , Rosenfeld , JA ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/3bfd6d3b-d028-4533-9ef8-f592d86abaed
https://doi.org/10.1038/ng.1091
http://hdl.handle.net/1765/57986

المساهمون: Guclu, B, Ozturk, AK, Pricola, KL, Bilguvar, K, Shin, D, O'Roak, BJ, Gunel, M

مصطلحات موضوعية: CCM3, familial cavernous malformations, genetics, mutations in CCM3 gene, PDCD10, TGCE, PROGRAMMED CELL-DEATH, ENCODING KRIT1, HETEROGENEITY, FAMILIES, ELECTROPHORESIS, EXPRESSION, ANGIOMAS, FEATURES, LINKAGE, PROTEIN

Relation: NEUROSURGERY; https://hdl.handle.net/11424/228341; WOS:000233173400040

الاتاحة: https://hdl.handle.net/11424/228341
https://doi.org/10.1227/01.NEU.0000180811.56157.E1