المؤلفون: Weiss, Lauren, State, Matthew, Sanders, Stephan, De, S, He, X, Goldberg, AP, Poultney, CS, Samocha, K, Cicek, AE, Kou, Y, Liu, L, Fromer, M, Walker, S

URL الوصول: https://escholarship.org/uc/item/13p6m25d

المؤلفون: Zhang, X., Theotokis, P. I., Li, N., Wright, C. F., Samocha, K. E., Whiffin, N., Ware, J. S.

المساهمون: Department of Clinical and Biomedical Sciences, Wright, Caroline F

مصطلحات موضوعية: Humans, Mutation, Missense, Protein Domains, Genetic Predisposition to Disease, Clinical interpretation, Developmental disorders, Genetic constraint, Missense variant interpretation, Lumen and Tenaya Therapeutics, unrelated to this work. The remaining authors, declare that they have no competing interests

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38992748/; Zhang X, Theotokis PI, Li N, Wright CF, Samocha KE, Whiffin N, et al. Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery. Genome Med. 2024;16(1):88.; Genome medicine; PMC11238507; https://hdl.handle.net/11287/623355

الاتاحة: https://hdl.handle.net/11287/623355
https://doi.org/10.1186/s13073-024-01358-9

المؤلفون: Wigdor, E. M., Samocha, K. E., Eberhardt, R. Y., Chundru, V. K., Firth, H. V., Wright, C. F., Hurles, M. E., Martin, H. C.

مصطلحات موضوعية: Child, Humans, Penetrance, Polymorphism, Single Nucleotide, Quantitative Trait Loci/genetics, Neurodevelopmental Disorders/genetics, Transcriptome

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38622173/; Wigdor EM, Samocha KE, Eberhardt RY, Chundru VK, Firth HV, Wright CF, et al. Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders. Sci Rep. 2024;14(1):8708.; Scientific reports; PMC11018828 Professor Hurles is a consultant for AstraZeneca, and is a non-executive director of, consultant for, and stock-holder in Congenica. All the other authors do not hold any competing interest.; https://hdl.handle.net/11287/623320

الاتاحة: https://hdl.handle.net/11287/623320
https://doi.org/10.1038/s41598-024-58894-y

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

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(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/11287/621979

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

المؤلفون: De, Rubeis S, He, X, Goldberg, AP, Poultney, CS, Samocha, K, Cicek, AE, Kou, Y, Liu, L, Fromer, M, Walker, S

المصدر: NATURE. 515(7526):209-215

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

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

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/37043637/; 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/11287/623016

الاتاحة: https://hdl.handle.net/11287/623016
https://doi.org/10.1056/NEJMoa2209046

المؤلفون: Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA, Autism Sequencing Consortium including Aleksic B, Anney R, Barbosa M, Barrett J, Betancur C, Bishop S, Brusco A, Chung BHY, Cook E, Coon H, Cutler DJ, Daly M, Doan R, Fernández-Prieto M, Ferrero GB, Gargus J, Geschwind D, Gill M, Gómez-Guerrero L, Hansen-Kiss E, He X, Herman G, Hertz-Picciotto I, Hultman C, Iliadou B, Ionita-Laza I, Jugessur A, Knudsen GP, Kosmicki J, Lee SL, Lehner T, Lennertz S, Lim E, Maciel P, Magnus P, Manoach D, Minshew N, Morrow E, Mulle J, Neale B, Palotie A, Passos-Bueno MR, Pericak-Vance M, Persico A, Pessah I, Reichenberg A, Reichert J, Renieri A, Robinson E, Samocha K, Sanders S, Sandin S, Santangelo SL, Satterstrom K, Schafer C, Schellenberg G, Scherer S, Senthil G, Silva M, Singh T, Siper PM, Soares G, Stevens C, Stoltenberg C, Surén P, Sutcliffe JS, Szatmari P, Tassone F, Thurm A, Walsh C, Weiss L, Werling D, Willsey J, Xu X, Yu TW, Yuen R, Zwick ME

المساهمون: Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA, Autism Sequencing Consortium including Aleksic B, Anney R, Barbosa M, Barrett J, Betancur C, Bishop S, Brusco A, Chung BHY, Cook E, Coon H, Cutler DJ, Daly M, Doan R, Fernández-Prieto M, Ferrero GB, Gargus J, Geschwind D, Gill M, Gómez-Guerrero L, Hansen-Kiss E, He X, Herman G, Hertz-Picciotto I, Hultman C, Iliadou B, Ionita-Laza I, Jugessur A, Knudsen GP, Kosmicki J, Lee SL, Lehner T, Lennertz S, Lim E, Maciel P, Magnus P, Manoach D, Minshew N, Morrow E, Mulle J, Neale B, Palotie A, Passos-Bueno MR, Pericak-Vance M, Persico A, Pessah I, Reichenberg A, Reichert J, Renieri A, Robinson E, Samocha K, Sanders S, Sandin S, Santangelo SL, Satterstrom K, Schafer C, Schellenberg G, Scherer S, Senthil G, Silva M, Singh T, Siper PM

مصطلحات موضوعية: Autism Spectrum Disorder, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Human, Mosaicism, Mutation, Missense, Zygote, Neuroscience (all)

Relation: info:eu-repo/semantics/altIdentifier/pmid/28714951; info:eu-repo/semantics/altIdentifier/wos/WOS:000408587700008; volume:20; issue:9; firstpage:1217; lastpage:1224; numberofpages:8; journal:NATURE NEUROSCIENCE; http://hdl.handle.net/2318/1659858; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85028454831; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5672813/

الاتاحة: http://hdl.handle.net/2318/1659858
https://doi.org/10.1038/nn.4598
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5672813/

المؤلفون: Francioli, L., Cretu-Stancu, M., Garimella, K., Fromer, M., Kloosterman, W., Li, M., Stoneking, M., Samocha, K., Neale, B., Daly, M., Banks, E., DePristo , M., de Bakker, P.

المساهمون: Genome of the Netherlands consortium, including

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0004-BF7A-D; http://hdl.handle.net/21.11116/0000-0004-BF7C-B; http://hdl.handle.net/21.11116/0000-0004-BF7D-A; http://hdl.handle.net/21.11116/0000-0004-BF7E-9; http://hdl.handle.net/21.11116/0000-0004-BF7F-8

الاتاحة: http://hdl.handle.net/21.11116/0000-0004-BF7A-D
http://hdl.handle.net/21.11116/0000-0004-BF7C-B
http://hdl.handle.net/21.11116/0000-0004-BF7D-A
http://hdl.handle.net/21.11116/0000-0004-BF7E-9
http://hdl.handle.net/21.11116/0000-0004-BF7F-8

المؤلفون: Lek, M, Karczewski, K, Minikel, E, Samocha, K, Banks, E, Fennell, T, O'Donnell-Luria, A, Ware, J, Hill, A, Cummings, B, Tukiainen, T, Birnbaum, D, Kosmicki, J, Duncan, L, Estrada, K, Zhao, F, Zou, J, Pierce-Hoffman, E, Berghout, J, Cooper, D, Deflaux, N, DePristo, M, Do, R, Flannick, J, Fromer, M, Gauthier, L, Goldstein, J, Gupta, N, Howrigan, D, Kiezun, A, Kurki, M, Moonshine, A, Natarajan, P, Orozco, L, Peloso, G, Poplin, R, Rivas, M, Ruano-Rubio, V, Rose, S, Ruderfer, D, Shakir, K, Stenson, P, Stevens, C, Thomas, B, Tiao, G, Tusie-Luna, M, Weisburd, B, Won, H, Yu, D, Altshuler, D, Ardissino, D, Boehnke, M, Danesh, J, Donnelly, S, Elosua, R, Florez, J, Gabriel, S, Getz, G, Glatt, S, Hultman, C, Kathiresan, S, Laakso, M, McCarroll, S, McCarthy, M, McGovern, D, McPherson, R, Neale, B, Palotie, A, Purcell, S, Saleheen, D, Scharf, J, Sklar, P, Sullivan, P, Tuomilehto, J, Tsuang, M, Watkins, H, Wilson, J, Daly, M, MacArthur, D

Relation: https://ora.ox.ac.uk/objects/uuid:38e5b2f5-0599-401b-b203-8c72e5e2dba8; https://doi.org/10.1038/nature19057

الاتاحة: https://doi.org/10.1038/nature19057
https://ora.ox.ac.uk/objects/uuid:38e5b2f5-0599-401b-b203-8c72e5e2dba8

المؤلفون: Robinson, E., St Pourcain, B., Anttila, V., Kosmicki, J., Bulik-Sullivan, B., Grove, J., Maller, J., Samocha, K., Sanders, S., Ripke, S., Martin, J., Hollegaard, M., Werge, T., Hougaard, D., Neale, B., Evans, D., Skuse, D., Mortensen, P., Borglum, A., Ronald, A., Smith, G., Daly, M.

المساهمون: i Psych- S. S. I. Broad Autism Group

المصدر: Nature Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-002A-0963-8; http://hdl.handle.net/11858/00-001M-0000-002A-142C-F; http://hdl.handle.net/11858/00-001M-0000-002A-81A6-C

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002A-0963-8
http://hdl.handle.net/11858/00-001M-0000-002A-142C-F
http://hdl.handle.net/11858/00-001M-0000-002A-81A6-C

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

Relation: 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/11585/515030; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930946843; https://www.nature.com/articles/ng.3144

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

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

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

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

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

Relation: 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/11365/1133708; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078664833

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

المؤلفون: Shaw, N.D., Brand, H., Kupchinsky, Z.A., Bengani, H., Plummer, L., Jones, T.I., Erdin, S., Williamson, K.A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B.B., Dunican, D.S., Collins, R.L., Willer, J.R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., Lucente, D., Silva, A., Seabra, C.M., Chiang, C., An, Y., Ansari, M., Rainger, J.K., Joss, S., Smith, J.C., Lippincott, M.F., Singh, S.S., Patel, N., Jing, J.W., Law, J.R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L.A., Brasseur, B., Cesaretti, C., Garcia-Ortiz, J.E., Buitrago, T.P., Silva, O.P., Hoffman, J.D., Muhlbauer, W., Ruprecht, K.W., Loeys, B.L., Shino, M., Kaindl, A.M., Cho, C.H., Morton, C.C., Meehan, R.R., Heyningen, V. van, Liao, E.C., Balasubramanian, R., Hall, J.E., Seminara, S.B., Macarthur, D., Moore, S.A., Yoshiura, K.I., Gusella, J.F., Marsh, J.A., Graham, J.M., Lin, A.E., Katsanis, N., Jones, P.L., Crowley, W.F., Davis, E.E., FitzPatrick, D.R., Talkowski, M.E.

المصدر: Nature Genetics, 49, 2, pp. 238-248

مصطلحات موضوعية: Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences

Relation: http://hdl.handle.net/2066/175555

الاتاحة: http://hdl.handle.net/2066/175555
https://doi.org/10.1038/ng.3743

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

Relation: https://mediatum.ub.tum.de/1430966

الاتاحة: https://mediatum.ub.tum.de/1430966
https://doi.org/10.1038/nature24643

المؤلفون: Lim, Elaine T., Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S., Zhang, Xiaochang, D'Gama, Alissa M., Kim, Sonia N., Hill, Robert Sean, Goldberg, Arthur P., Poultney, Christopher, Minshew, Nancy J., Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J., Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M., Weiss, Lauren A., Fromer, Menachem, Chiocchetti, Andreas G., Freitag, Christine M., Church, George M., Scherer, Stephen W., Buxbaum, Joseph D., Walsh, Christopher A, Aleksic, B, Anney, R, Barbosa, M, Barrett, J, Betancur, C, Bishop, S, Brusco, A, Buxbaum, Jd, Carracedo, A, Chiocchetti, Ag, Chung, Bhy, Cook, E, Coon, H, Cutler, Dj, Daly, M, De Rubeis, S, Doan, R, Fernández-Prieto, M, Ferrero, Gb, Freitag, Cm, Fromer, M, Gargus, J, Geschwind, D, Gill, M, Gómez-Guerrero, L, Hansen-Kiss, E, He, X, Herman, G, Hertz-Picciotto, I, Hultman, C, Iliadou, B, Ionita-Laza, I, Jugessur, A, Knudsen, Gp, Kolevzon, A, Kosmicki, J, Kushima, I, Lee, Sl, Lehner, T, Lennertz, S, Lim, E, Maciel, P, Magnus, P, Manoach, D, Minshew, N, Morrow, E, Mulle, J, Neale, B, Ozaki, N, Palotie, A, Parellada, M, Passos-Bueno, Mr, Pericak-Vance, M, Persico, A, Pessah, I, Reichenberg, A, Reichert, J, Renieri, A, Robinson, E, Samocha, K, Sanders, S, Sandin, S, Santangelo, Sl, Satterstrom, K, Schafer, C, Schellenberg, G, Scherer, S, Senthil, G, Silva, M, Singh, T, Siper, Pm, Soares, G, Stevens, C, Stoltenberg, C, Surén, P, Sutcliffe, Js, Szatmari, P, Tassone, F, Thurm, A, Walsh, C, Weiss, L, Werling, D, Willsey, J, Xu, X, Yu, Tw, Yuen, R, Zwick, Me.

المساهمون: Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Harvard University [Cambridge], Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), Icahn School of Medicine at Mount Sinai [New York] (MSSM), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), Nagoya University, Hospital General Universitario 'Gregorio Marañón' [Madrid], Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Universidade de Santiago de Compostela [Spain] (USC ), CIBER de Enfermedades Raras (CIBERER), Fundación Pública Galega Medicina Xenómica - SERGAS [Santiago de Compostela, Spain] (Grupo de Medicina Xenómica), CIBER de Enfermedades Raras (CIBERER)-Universidade de Santiago de Compostela [Spain] (USC ), King Abdulaziz University, Karolinska Institutet [Stockholm], University of California [San Francisco] (UCSF), University of California, Goethe-University Frankfurt am Main, Génétique de l'autisme = Genetics of Autism (NPS-01), Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Hospital for sick children [Toronto] (SickKids), University of Toronto, McLaughlin Centre for Population Health Risk Assessment, University of Ottawa [Ottawa], Autism Sequencing Consortium: Branko Aleksic, Richard Anney, Mafalda Barbosa, Jeffrey Barrett, Catalina Betancur, Somer Bishop, Alfredo Brusco, Joseph D Buxbaum, Angel Carracedo, Andreas G Chiocchetti, Brian H Y Chung, Edwin Cook, Hilary Coon, David J Cutler, Mark Daly, Silvia De Rubeis, Ryan Doan, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M Freitag, Menachem Fromer, Jay Gargus, Dan Geschwind, Michael Gill, Lorena Gómez-Guerrero, Emily Hansen-Kiss, Xin He, Gail Herman, Irva Hertz-Picciotto, Christina Hultman, Bozenna Iliadou, Iuliana Ionita-Laza, Anil Jugessur, Gun Peggy Knudsen, Alexander Kolevzon, Jack Kosmicki, Itaru Kushima, S L Lee, Thomas Lehner, Savannah Lennertz, Elaine Lim, Patricia Maciel, Per Magnus, Dara Manoach, Nancy Minshew, Eric Morrow, Jennifer Mulle, Benjamin Neale, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Margaret Pericak-Vance, Antonio Persico, Isaac Pessah, Avi Reichenberg, Jennifer Reichert, Alessandra Renieri, Elise Robinson, Kaitlin Samocha, Stephan Sanders, Sven Sandin, Susan L Santangelo, Kyle Satterstrom, Chad Schafer, Gerry Schellenberg, Stephen Scherer, Geetha Senthil, Marisol Silva, Tarjinder Singh, Paige M Siper, Gabriela Soares, Christine Stevens, Camilla Stoltenberg, Pål Surén, James S Sutcliffe, Peter Szatmari, Flora Tassone, Audrey Thurm, Christopher Walsh, Lauren Weiss, Donna Werling, Jeremy Willsey, Xinyi Xu, Timothy W Yu, Ryan Yuen, Michael E Zwick., University of California [San Francisco] (UC San Francisco), University of California (UC), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Betancur, Catalina

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature Neuroscience, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature neuroscience

مصطلحات موضوعية: 0301 basic medicine, Proband, Nonsynonymous substitution, Autism Spectrum Disorder, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Mosaicism, Mutation, Missense, Zygote, Neuroscience (all), Mutation, Missense, Epigenetics of autism, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, medicine.disease_cause, Article, 03 medical and health sciences, Genetic variation, mental disorders, Databases, Genetic, medicine, Missense mutation, Heritability of autism, MESH: Genetic Variation, MESH: Databases, Genetic, Genetics, MESH: Autism Spectrum Disorder, MESH: Mutation, Missense, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, General Neuroscience, MESH: Genetic Predisposition to Disease, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism spectrum disorder, MESH: Zygote, MESH: Mosaicism

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4699aa2b3e33998a0424fa6605504e
http://hdl.handle.net/2318/1659858

المؤلفون: Francioli, L.C. (Laurent), Cretu-Stancu, M. (Mircea), Garimella, K.V. (Kiran), Fromer, M. (Menachem), Kloosterman, W.P. (Wigard), Genome of the Netherlands Consortium, Samocha, K. (Kaitlin), Neale, B. (Benjamin), Daly, M.J. (Mark), Banks, E. (Eric), DePristo, M.A. (Mark), Bakker, P.I.W. (Paul) de

المصدر: European Journal of Human Genetics vol. 25 no. 2, pp. 227-233

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://ir.cwi.nl/pub/25438

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

Relation: 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

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

المؤلفون: Grimm, D., Azencott, C., Aicheler, F., Gieraths, U., MacArthur, D., Samocha, K., Cooper, D., Stenson, P., Daly, M., Smoller, J., Duncan, L., Borgwardt, K.

المصدر: Human Mutation

Relation: info:eu-repo/semantics/altIdentifier/pissn/1059-7794, 1098-1004; http://hdl.handle.net/21.11116/0000-000C-F2EC-9

الاتاحة: http://hdl.handle.net/21.11116/0000-000C-F2EC-9

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

Relation: https://academicworks.medicine.hofstra.edu/publications/2742; https://academicworks.medicine.hofstra.edu/context/publications/article/3743/viewcontent/Science2015v350p1262.pdf

الاتاحة: https://academicworks.medicine.hofstra.edu/publications/2742
https://academicworks.medicine.hofstra.edu/context/publications/article/3743/viewcontent/Science2015v350p1262.pdf