المؤلفون: Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R., Whiffin, N.

مصطلحات موضوعية: 5' Untranslated Regions, Child, Cohort Studies, DNA Copy Number Variations, Developmental Disabilities/*etiology/pathology, Genetic Predisposition to Disease, Humans, Loss of Function Mutation, MEF2 Transcription Factors/genetics, Whole Exome Sequencing, developmental disorders, clinical genetic testing, non-coding region variants, 5', UTR variants

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00184-1; Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R. and Whiffin, N. (2021) 'Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms', American Journal of Human Genetics, 108(6), pp. 1083-1094.; American Journal of Human Genetics; PMC8206381; https://hdl.handle.net/11287/621979Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.025Test
https://hdl.handle.net/11287/621979Test

المؤلفون: Wright, C. F., Campbell, P., Eberhardt, R. Y., Aitken, S., Perrett, D., Brent, S., Danecek, P., Gardner, E. J., Chundru, V. K., Lindsay, S. J., Andrews, K., Hampstead, J., Kaplanis, J., Samocha, K. E., Middleton, A., Foreman, J., Hobson, R. J., Parker, M. J., Martin, H. C., FitzPatrick, D. R., Hurles, M. E., Firth, H. V.

مصطلحات موضوعية: Child, Humans, Exome, Genomics, Ireland/epidemiology, United Kingdom/epidemiology, Rare Diseases/diagnosis/epidemiology/genetics, Oligonucleotide Array Sequence Analysis, Genetic Association Studies, Neurodevelopmental Disorders/diagnosis/genetics, Congenital Abnormalities/diagnosis/genetics, Growth Disorders/diagnosis/genetics, Facies, Child Behavior Disorders/diagnosis/genetics, Genetic Diseases, Inborn/diagnosis/genetics

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/37043637Test/; Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, et al. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. The New England journal of medicine. 2023;388(17):1559-71.; The New England journal of medicine; PMC7614484; https://hdl.handle.net/11287/623016Test

الإتاحة: https://doi.org/10.1056/NEJMoa2209046Test
https://hdl.handle.net/11287/623016Test

المؤلفون: Lal D., May P., Perez-Palma E., Samocha K. E., Kosmicki J. A., Robinson E. B., Moller R. S., Krause R., Nurnberg P., Weckhuysen S., De Jonghe P., Guerrini R., Niestroj L. M., Du J., Marini C., Balling R., Barisic N., Baulac S., Caglayan H., Craiu D. C., Depienne C., Helbig I., Hjalgrim H., Hoffman-Zacharska D., Jahn J., Klein K. M., Koeleman B. P. C., Komarek V., Leguern E., Lehesjoki A. -E., Lemke J. R., Lerche H., Linnankivi T., Muhle H., Pal D. K., Palotie A., Rosenow F., Schubert-Bast S., Selmer K., Serratosa J. M., Stephani U., Sterbova K., Striano P., Suls A., Talvik T., Von Spiczak S., Weber Y. G., Zara F., Ware J. S., Kurki M., Gormley P., Tang S., Wu S., Biskup S., Poduri A., Neubauer B. A., Helbig K. L., Majithia A. R., Daly M. J.

المساهمون: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.

مصطلحات موضوعية: Conservation, Gene family, Missense variant, Neurodevelopmental disorder, Paralogs

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000521208500001; volume:12; firstpage:28; lastpage:28; numberofpages:1; journal:GENOME MEDICINE; http://hdl.handle.net/11567/1021987Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082059954

الإتاحة: https://doi.org/10.1186/s13073-020-00725-6Test
http://hdl.handle.net/11567/1021987Test

المؤلفون: Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., TINUPER, PAOLO, LICCHETTA, LAURA, Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A. E.

المساهمون: Muona, M., Berkovic, S.F., Dibbens, L.M., Oliver, K.L., Maljevic, S., Bayly, M.A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S.E., Hildebrand, M.S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I.E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M.D., Ozkara, C., Andrade, D.M., Engelsen, B.A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A.J., Kauffmann, B., Duchowny, M., Moller, R.S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K.E., Daly, M.J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A.-E.

مصطلحات موضوعية: Amino Acid Sequence, Amino Acid Substitution, Animal, Base Sequence, Carrier Protein, Conserved Sequence, Exome, Female, Genes, Dominant, Heat-Shock Protein, Human, Male, Molecular Sequence Data, Myoclonic Epilepsies, Progressive, Pedigree, Prion, Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Shaw Potassium Channel, Species Specificity, Mutation, Missense, Point Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25401298; info:eu-repo/semantics/altIdentifier/wos/WOS:000346990400009; volume:47; issue:1; firstpage:39; lastpage:46; numberofpages:8; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/FP7/201413 ,242167, 261433, 261123; http://hdl.handle.net/11585/515030Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930946843; https://www.nature.com/articles/ng.3144Test

الإتاحة: https://doi.org/10.1038/ng.3144Test
http://hdl.handle.net/11585/515030Test
https://www.nature.com/articles/ng.3144Test

المؤلفون: Satterstrom F. K., Kosmicki J. A., Wang J., Breen M. S., De Rubeis S., An J. -Y., Peng M., Collins R., Grove J., Klei L., Stevens C., Reichert J., Mulhern M. S., Artomov M., Gerges S., Sheppard B., Xu X., Bhaduri A., Norman U., Brand H., Schwartz G., Nguyen R., Guerrero E. E., Dias C., Aleksic B., Anney R., Barbosa M., Bishop S., Brusco A., Bybjerg-Grauholm J., Carracedo A., Chan M. C. Y., Chiocchetti A. G., Chung B. H. Y., Coon H., Cuccaro M. L., Curro A., Dalla Bernardina B., Doan R., Domenici E., Dong S., Fallerini C., Fernandez-Prieto M., Ferrero G. B., Freitag C. M., Fromer M., Gargus J. J., Geschwind D., Giorgio E., Gonzalez-Penas J., Guter S., Halpern D., Hansen-Kiss E., He X., Herman G. E., Hertz-Picciotto I., Hougaard D. M., Hultman C. M., Ionita-Laza I., Jacob S., Jamison J., Jugessur A., Kaartinen M., Knudsen G. P., Kolevzon A., Kushima I., Lee S. L., Lehtimaki T., Lim E. T., Lintas C., Lipkin W. I., Lopergolo D., Lopes F., Ludena Y., Maciel P., Magnus P., Mahjani B., Maltman N., Manoach D. S., Meiri G., Menashe I., Miller J., Minshew N., Montenegro E. M. S., Moreira D., Morrow E. M., Mors O., Mortensen P. B., Mosconi M., Muglia P., Neale B. M., Nordentoft M., Ozaki N., Palotie A., Parellada M., Passos-Bueno M. R., Pericak-Vance M., Persico A. M., Pessah I., Puura K., Reichenberg A., Renieri A., Riberi E., Robinson E. B., Samocha K. E., Sandin S., Santangelo S. L., Schellenberg G., Scherer S. W., Schlitt S., Schmidt R., Schmitt L., Silva I. M. W., Singh T., Siper P. M., Smith M., Soares G., Stoltenberg C., Suren P., Susser E., Sweeney J., Szatmari P., Tang L., Tassone F., Teufel K., Trabetti E., Trelles M. D. P., Walsh C. A., Weiss L. A., Werge T., Werling D. M., Wigdor E. M., Wilkinson E., Willsey A. J., Yu T. W., Yu M. H. C., Yuen R., Zachi E., Agerbo E., Als T. D., Appadurai V., Baekvad-Hansen M., Belliveau R., Buil A., Carey C. E., Cerrato F., Chambert K., Churchhouse C., Dalsgaard S., Demontis D., Dumont A., Goldstein J., Hansen C. S., Hauberg M. E., Hollegaard M. V., Howrigan D. P., Huang H., Maller J., Martin A. R., Martin J., Mattheisen M., Moran J., Pallesen J., Palmer D. S., Pedersen C. B., Pedersen M. G., Poterba T., Poulsen J. B., Ripke S., Schork A. J., Thompson W. K., Turley P., Walters R. K., Betancur C., Cook E. H., Gallagher L., Gill M., Sutcliffe J. S., Thurm A., Zwick M. E., Borglum A. D., State M. W., Cicek A. E., Talkowski M. E., Cutler D. J., Devlin B., Sanders S. J., Roeder K., Daly M. J., Buxbaum J. D.

المساهمون: Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J. -Y., Peng, M., Collins, R., Grove, J., Klei, L., Stevens, C., Reichert, J., Mulhern, M. S., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., Brand, H., Schwartz, G., Nguyen, R., Guerrero, E. E., Dias, C., Aleksic, B., Anney, R., Barbosa, M., Bishop, S., Brusco, A., Bybjerg-Grauholm, J., Carracedo, A., Chan, M. C. Y., Chiocchetti, A. G., Chung, B. H. Y., Coon, H., Cuccaro, M. L., Curro, A., Dalla Bernardina, B., Doan, R., Domenici, E., Dong, S., Fallerini, C., Fernandez-Prieto, M., Ferrero, G. B., Freitag, C. M., Fromer, M., Gargus, J. J., Geschwind, D., Giorgio, E., Gonzalez-Penas, J., Guter, S., Halpern, D., Hansen-Kiss, E., He, X., Herman, G. E., Hertz-Picciotto, I., Hougaard, D. M., Hultman, C. M., Ionita-Laza, I., Jacob, S., Jamison, J., Jugessur, A., Kaartinen, M., Knudsen, G. P., Kolevzon, A., Kushima, I., Lee, S. L., Lehtimaki, T., Lim, E. T., Lintas, C., Lipkin, W. I., Lopergolo, D., Lopes, F., Ludena, Y., Maciel, P., Magnus, P., Mahjani, B., Maltman, N., Manoach, D. S., Meiri, G., Menashe, I., Miller, J., Minshew, N., Montenegro, E. M. S., Moreira, D., Morrow, E. M., Mors, O., Mortensen, P. B., Mosconi, M., Muglia, P., Neale, B. M., Nordentoft, M., Ozaki, N., Palotie, A., Parellada, M., Passos-Bueno, M. R., Pericak-Vance, M., Persico, A. M., Pessah, I., Puura, K.

مصطلحات موضوعية: autism spectrum disorder, cell type, cytoskeleton, excitatory neuron, excitatory-inhibitory balance, exome sequencing, genetic, inhibitory neuron, liability, neurodevelopment, Autistic Disorder, Case-Control Studie, Cell Lineage, Cerebral Cortex, Cohort Studie, Exome, Female, Gene Frequency, Genetic Predisposition to Disease, Human, Male, Mutation, Missense, Neurobiology, Neuron, Phenotype, Sex Factor, Single-Cell Analysi, Whole Exome Sequencing, Gene Expression Regulation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31981491; info:eu-repo/semantics/altIdentifier/wos/WOS:000512977500012; volume:180; issue:3; firstpage:568; lastpage:584.e23; journal:CELL; http://hdl.handle.net/11365/1133708Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078664833

الإتاحة: https://doi.org/10.1016/j.cell.2019.12.036Test
http://hdl.handle.net/11365/1133708Test

المؤلفون: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.

المساهمون: EuroEPINOMICS-RES Consortium, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Department of Medical and Clinical Genetics, Medicum, HUS Helsinki and Uusimaa Hospital District, Wellcome Trust

المصدر: Genome medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Genome Medicine
Lal, D, May, P, Perez-Palma, E, Samocha, K E, Kosmicki, J A, Robinson, E B, Møller, R S, Krause, R, Nürnberg, P, Weckhuysen, S, De Jonghe, P, Guerrini, R, Niestroj, L M, Du, J, Marini, C, Ware, J S, Kurki, M, Gormley, P, Tang, S, Wu, S, Biskup, S, Poduri, A, Neubauer, B A, Koeleman, B P C, Helbig, K L, Weber, Y G, Helbig, I, Majithia, A R, Palotie, A, Daly, M J & EuroEPINOMICS RES Consortium 2020, ' Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders ', Genome Medicine, vol. 12, 28 . https://doi.org/10.1186/s13073-020-00725-6Test

مصطلحات موضوعية: Candidate gene, lcsh:QH426-470, Developmental Disabilities, Mutation, Missense, Sequence Homology, lcsh:Medicine, ORTHOLOGS, Computational biology, Conservation, Gene family, Missense variants, Neurodevelopmental disorders, Paralogs, Biology, 03 medical and health sciences, MULTIPLE SEQUENCE ALIGNMENT, PHYLOGENETIC TREES, Genetics, Missense mutation, Ensembl, Molecular Biology, Gene, Genetics (clinical), Phylogeny, 030304 developmental biology, 0303 health sciences, 0604 Genetics, Phylogenetic tree, Research, 030305 genetics & heredity, lcsh:R, 1184 Genetics, developmental biology, physiology, 1103 Clinical Sciences, EuroEPINOMICS-RES Consortium, Human genetics, lcsh:Genetics, Genetic Loci, DE-NOVO MUTATIONS, Multigene Family, Molecular Medicine, Human medicine, Orthologous Gene, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b036557331bdae2c9f0cad2faa39ec2dTest
https://hdl.handle.net/10067/1686320151162165141Test

المؤلفون: Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., Brown, J. M., Caddle, L. B., Chiani, F., Clary, D., Cleak, J., Daly, M. J., Denegre, J. M., Doe, B., Dolan, M. E., Edie Helmut Fuchs, S. M., Gailus-Durner, V., Galli, A., Gambadoro, A., Gallegos, J., Guo, S., Horner, N. R., Hsu, C. W., Johnson, S. J., Kalaga, S., Keith, L. C., Lanoue, L., Lawson, T. N., Lek, M., Mark, M., Marschall, S., Mason, J., McElwee, M. L., Nutter, Snlmj, Peterson, K. A., Ramirez-Solis, R., Rowland, D. J., Ryder, E., Samocha, K. E., Seavitt, J. R., Selloum, M., Szoke-Kovacs, Z., Tamura, M., Trainor, A. G., Tudose, I., Wakana, S., Warren, J., Wendling, O., West, D. B., Wong, L., Yoshiki, A., Wurst, W., MacArthur, D. G., Tocchini-Valentini, G. P., Gao, X., Flicek, P., Bradley, A., Skarnes, W. C., Justice, M. J., Parkinson, H. E., Moore, M., Wells, S., Braun, R. E., Svenson, K. L., de Angelis, M. H., Herault, Y., Mohun, T., Mallon, A. M., Henkelman, R. M., Brown, S. D. M., Adams, D. J., Lloyd, K. C. K., McKerlie, C., Beaudet, A. L., Murray, Mbsa

مصطلحات موضوعية: info:eu-repo/classification/ddc

العلاقة: https://mediatum.ub.tum.de/1430966Test

الإتاحة: https://doi.org/10.1038/nature24643Test
https://mediatum.ub.tum.de/1430966Test

المؤلفون: Willsey, A. J., Fernandez, T. V., Yu, D., King, R. A., Dietrich, A., Xing, J., Sanders, S. J., Mandell, J. D., Huang, A. Y., Richer, P., Smith, L., Dong, S., Samocha, K. E., Neale, B. M., Coppola, G., Mathews, C. A., Tischfield, J. A., Scharf, J. M., State, M. W., Heiman, G. A.

مصطلحات موضوعية: de novo mutation, Tourette Syndrome

العلاقة: Willsey, A. J., Fernandez, T. V., Yu, D., King, R. A., Dietrich, A., Xing, J., Sanders, S. J., Mandell, J. D., Huang, A. Y., Richer, P., Smith, L., Dong, S., Samocha, K. E., Neale, B. M., Coppola, G., Mathews, C. A., Tischfield, J. A., Scharf, J. M., State, M. W., Heiman, G. A. (May 2017) De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron, 94 (3). 486-499.e9. ISSN 0896-6273

الإتاحة: https://doi.org/10.1016/j.neuron.2017.04.024Test
http://repository.cshl.edu/id/eprint/35077Test/
https://www.ncbi.nlm.nih.gov/pubmed/28472652Test

المؤلفون: Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., DePalma, S. R., McKean, D., Romano-Adesman, A., Chung, W. K., +31 additional authors

المصدر: Journal Articles

مصطلحات موضوعية: Brain/abnormalities/metabolism, Child, Congenital Abnormalities/genetics, Exome/genetics, Heart Defects, Congenital/*diagnosis/*genetics, Humans, Mutation, Nervous System Malformations/*genetics, Neurogenesis/*genetics, Prognosis, RNA Splicing/genetics, RNA, Messenger/genetics, RNA-Binding Proteins/genetics, Repressor Proteins/genetics, Transcription, Genetic, Pediatrics

وصف الملف: application/pdf

العلاقة: https://academicworks.medicine.hofstra.edu/publications/2742Test; https://academicworks.medicine.hofstra.edu/context/publications/article/3743/viewcontent/Science2015v350p1262.pdfTest

الإتاحة: https://doi.org/10.1126/science.aac9396Test
https://academicworks.medicine.hofstra.edu/publications/2742Test
https://academicworks.medicine.hofstra.edu/context/publications/article/3743/viewcontent/Science2015v350p1262.pdfTest

المؤلفون: Weiner, D. J., Wigdor, E. M., Ripke, S., Walters, R. K., Kosmicki, J. A., Grove, J., Samocha, K. E., Goldstein, J. I., Okbay, A., Bybjerg-Grauholm, J., Werge, T., Hougaard, D. M., Taylor, J., Skuse, D., Devlin, B., Anney, R., Sanders, S. J., Bishop, S., Mortensen, P. B., Borglum, A. D., Smith, G. D., Daly, M. J., Robinson, E. B., Baekvad-Hansen, M., Dumont, A., Hansen, C., Hansen, T. F., Howrigan, D., Mattheisen, M., Moran, J., Mors, O., Nordentoft, M., Norgaard-Pedersen, B., Poterba, T., Poulsen, J., Stevens, C., Anttila, V., Holmans, P., Huang, H. L., Klei, L., Lee, P. H., Medland, S. E., Neale, B., Weiss, L. A., Zwaigenbaum, L., Yu, T. W., Wittemeyer, K., Willsey, A. J., Wijsman, E. M., Wassink, T. H., Waltes, R., Walsh, C. A., Wallace, S., Vorstman, J. A. S., Vieland, V. J., Vicente, A. M., van Engeland, H., Tsang, K., Thompson, A. P., Szatmari, P., Svantesson, O., Steinberg, S., Stefansson, K., Stefansson, H., State, M. W., Soorya, L., Silagadze, T., Scherer, S. W., Schellenberg, G. D., Sandin, S., Saemundsen, E., Rouleau, G. A., Roge, B., Roeder, K., Roberts, W., Reichert, J., Reichenberg, A., Rehnstrom, K., Regan, R., Poustka, F., Poultney, C. S., Piven, J., Pinto, D., Pericak-Vance, M. A., Pejovic-Milovancevic, M., Pedersen, M. G., Pedersen, C. B., Paterson, A. D., Parr, J. R., Pagnamenta, A. T., Oliveira, G., Nurnberger, J. I., Murtha, M. T., Mouga, S., Morrow, E. M., De Luca, D. M., Monaco, A. P., Minshew, N., Merikangas, A., McMahon, W. M., McGrew, S. G., Martsenkovsky, I., Martin, D. M., Mane, S. M., Magnusson, P., Magalhaes, T., Maestrini, E., Lowe, J. K., Lord, C., Levitt, P., Martin, C. L., Ledbetter, D. H., Leboyer, M., Le Couteur, A. S., Ladd-Acosta, C., Kolevzon, A., Klauck, S. M., Jacob, S., Iliadou, B., Hultman, C. M., Hertz-Picciotto, I., Hendren, R., Hansen, C. S., Haines, J. L., Guter, S. J., Grice, D. E., Green, J. M., Green, A., Goldberg, A. P., Gillberg, Christopher, 1950, Gilbert, J., Gallagher, L., Freitag, C. M., Fombonne, E., Folstein, S. E., Fernandez, B., Fallin, M. D., Ercan-Sencicek, A. G., Ennis, S., Duque, F., Duketis, E., Delorme, R., De Rubeis, S., De Jonge, M. V., Dawson, G., Cuccaro, M. L., Correia, C. T., Conroy, J., Conceicao, I. C., Chiocchetti, A. G., Celestino-Soper, P. B. S., Casey, J., Cantor, R. M., Cafe, C., Brennan, S., Bourgeron, T., Bolton, P. F., Bolte, S., Bolshakova, N., Betancur, C., Bernier, R., Beaudet, A. L., Battaglia, A., Bal, V. H., Baird, G., Bailey, A. J., Bader, J. S., Bacchelli, E., Anagnostou, E., Amaral, D., Almeida, J., Buxbaum, J. D., Chakravarti, A., Cook, E. H., Coon, H., Geschwind, D. H., Gill, M., Hakonarson, H., Hallmayer, J., Palotie, A., Santangelo, S., Sutcliffe, J. S., Arking, D. E., i, Psych-Broad Autism Grp Psychiat Genomics Consortium

المصدر: Nature Genetics. 49(7)

مصطلحات موضوعية: Neurology, Neurologi, genome-wide association, de-novo, genetic risk, general-population, variants, mutations, insights, disease, biology, loci, Genetics & Heredity

الوصول الحر: https://gup.ub.gu.se/publication/255452Test