المؤلفون: Cleynen I., Engchuan W., Hestand M. S., Heung T., Holleman A. M., Johnston H. R., Monfeuga T., McDonald-McGinn D. M., Gur R. E., Morrow B. E., Swillen A., Vorstman J. A. S., Bearden C. E., Chow E. W. C., van den Bree M., Emanuel B. S., Vermeesch J. R., Warren S. T., Owen M. J., Chopra P., Cutler D. J., Duncan R., Kotlar A. V., Mulle J. G., Voss A. J., Zwick M. E., Diacou A., Golden A., Guo T., Lin J. -R., Wang T., Zhang Z., Zhao Y., Marshall C., Merico D., Jin A., Lilley B., Salmons H. I., Tran O., Holmans P., Pardinas A., Walters J. T. R., Demaerel W., Boot E., Butcher N. J., Costain G. A., Lowther C., Evers R., van Amelsvoort T. A. M. J., van Duin E., Vingerhoets C., Breckpot J., Devriendt K., Vergaelen E., Vogels A., Crowley T. B., McGinn D. E., Moss E. M., Sharkus R. J., Unolt M., Zackai E. H., Calkins M. E., Gallagher R. S., Gur R. C., Tang S. X., Fritsch R., Ornstein C., Repetto G. M., Breetvelt E., Duijff S. N., Fiksinski A., Moss H., Niarchou M., Murphy K. C., Prasad S. E., Daly E. M., Gudbrandsen M., Murphy C. M., Murphy D. G., Buzzanca A., Fabio F. D., Digilio M. C., Pontillo M., Marino B., Vicari S., Coleman K., Cubells J. F., Ousley O. Y., Carmel M., Gothelf D., Mekori-Domachevsky E., Michaelovsky E., Weinberger R., Weizman A., Kushan L., Jalbrzikowski M., Armando M., Eliez S., Sandini C., Schneider M., Bena F. S., Antshel K. M., Fremont W., Kates W. R., Belzeaux R., Busa T., Philip N., Campbell L. E., McCabe K. L., Hooper S. R., Schoch K., Shashi V., Simon T. J., Tassone F., Arango C., Fraguas D., Garcia-Minaur S., Morey-Canyelles J., Rosell J., Suner D. H., Raventos-Simic J., Epstein M. P., Williams N. M., Bassett A. S.

المساهمون: Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Y., Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., McGinn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, S., Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M.

مصطلحات موضوعية: genetic, 22q11deletion syndrome, schizophrenia

Relation: info:eu-repo/semantics/altIdentifier/pmid/32015465; info:eu-repo/semantics/altIdentifier/wos/WOS:000510821800003; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11573/1486440; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079175539

الاتاحة: http://hdl.handle.net/11573/1486440
https://doi.org/10.1038/s41380-020-0654-3

المؤلفون: Doan R. N., Lim E. T., De Rubeis S., Betancur C., Cutler D. J., Chiocchetti A. G., Overman L. M., Soucy A., Goetze S., ASC consortium, Brusco A., Curró A., Fallerini C., Lopergolo D., Lintas C., Domenici E., Dalla Bernardina B., Ferrero G. B., Giorgio E., Trabetti E., Renieri A., Riberi E., Freitag C. M., Daly M. J., Walsh C. A., Buxbaum J. D., Yu T. W.

المساهمون: Doan R.N., Lim E.T., De Rubeis S., Betancur C., Cutler D.J., Chiocchetti A.G., Overman L.M., Soucy A., Goetze S., ASC consortium, Brusco A., Curró A., Fallerini C., Lopergolo D., Lintas C., Domenici E., Dalla Bernardina B., Ferrero G.B., Giorgio E., Trabetti E., Renieri A., Riberi E., Freitag C.M., Daly M.J., Walsh C.A., Buxbaum J.D., Yu T.W.

مصطلحات موضوعية: Autism Spectrum Disorder, Case-Control Studie, Cohort Studie, Female, Genes, Recessive, Genome, Human, Male, Whole Exome Sequencing, Allelic Imbalance, Genetic Predisposition to Disease, Mutation, Missense

Relation: info:eu-repo/semantics/altIdentifier/pmid/31209396; info:eu-repo/semantics/altIdentifier/wos/WOS:000473491900007; volume:51; issue:7; firstpage:1092; lastpage:1098; numberofpages:7; journal:NATURE GENETICS; http://hdl.handle.net/2318/1725347; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067884735; http://www.nature.com/ng/index.html

الاتاحة: http://hdl.handle.net/2318/1725347
https://doi.org/10.1038/s41588-019-0433-8
http://www.nature.com/ng/index.html

المؤلفون: Sazonovs A., Stevens C. R., Venkataraman G. R., Yuan K., Avila B., Abreu M. T., Ahmad T., Allez M., Ananthakrishnan A. N., Atzmon G., Baras A., Barrett J. C., Barzilai N., Beaugerie L., Beecham A., Bernstein C. N., Bitton A., Bokemeyer B., Chan A., Chung D., Cleynen I., Cosnes J., Cutler D. J., Daly A., Damas O. M., Datta L. W., Dawany N., Devoto M., Dodge S., Ellinghaus E., Fachal L., Farkkila M., Faubion W., Ferreira M., Franchimont D., Gabriel S. B., Ge T., Georges M., Gettler K., Giri M., Glaser B., Goerg S., Goyette P., Graham D., Hamalainen E., Haritunians T., Heap G. A., Hiltunen M., Hoeppner M., Horowitz J. E., Irving P., Iyer V., Jalas C., Kelsen J., Khalili H., Kirschner B. S., Kontula K., Koskela J. T., Kugathasan S., Kupcinskas J., Lamb C. A., Laudes M., Levesque C., Levine A. P., Lewis J. D., Liefferinckx C., Loescher B. -S., Louis E., Mansfield J., May S., McCauley J. L., Mengesha E., Mni M., Moayyedi P., Moran C. J., Newberry R. D., O'Charoen S., Okou D. T., Oldenburg B., Ostrer H., Palotie A., Paquette J., Pekow J., Peter I., Pierik M. J., Ponsioen C. Y., Pontikos N., Prescott N., Pulver A. E., Rahmouni S., Rice D. L., Saavalainen P., Sands B., Sartor R. B., Schiff E. R., Schreiber S., Schumm L. P., Segal A. W., Seksik P., Shawky R., Sheikh S. Z., Silverberg M. S., Simmons A., Skeiceviciene J., Sokol H., Solomonson M., Somineni H., Sun D., Targan S., Turner D., Uhlig H. H., van der Meulen A. E., Vermeire S., Verstockt S., Voskuil M. D., Winter H. S., Young J., Duerr R. H., Franke A., Brant S. R., Cho J., Weersma R. K., Parkes M., Xavier R. J., Rivas M. A., Rioux J. D., McGovern D. P. B., Huang H., Anderson C. A., Daly M. J.

المساهمون: Sazonovs, A., Stevens, C. R., Venkataraman, G. R., Yuan, K., Avila, B., Abreu, M. T., Ahmad, T., Allez, M., Ananthakrishnan, A. N., Atzmon, G., Baras, A., Barrett, J. C., Barzilai, N., Beaugerie, L., Beecham, A., Bernstein, C. N., Bitton, A., Bokemeyer, B., Chan, A., Chung, D., Cleynen, I., Cosnes, J., Cutler, D. J., Daly, A., Damas, O. M., Datta, L. W., Dawany, N., Devoto, M., Dodge, S., Ellinghaus, E., Fachal, L., Farkkila, M., Faubion, W., Ferreira, M., Franchimont, D., Gabriel, S. B., Ge, T., Georges, M., Gettler, K., Giri, M., Glaser, B., Goerg, S., Goyette, P., Graham, D., Hamalainen, E., Haritunians, T., Heap, G. A., Hiltunen, M., Hoeppner, M., Horowitz, J. E., Irving, P., Iyer, V., Jalas, C., Kelsen, J., Khalili, H., Kirschner, B. S., Kontula, K., Koskela, J. T., Kugathasan, S., Kupcinskas, J., Lamb, C. A., Laudes, M., Levesque, C., Levine, A. P., Lewis, J. D., Liefferinckx, C., Loescher, B. -S., Louis, E., Mansfield, J., May, S., Mccauley, J. L., Mengesha, E., Mni, M., Moayyedi, P., Moran, C. J., Newberry, R. D., O'Charoen, S., Okou, D. T., Oldenburg, B., Ostrer, H., Palotie, A., Paquette, J., Pekow, J., Peter, I., Pierik, M. J., Ponsioen, C. Y., Pontikos, N., Prescott, N., Pulver, A. E., Rahmouni, S., Rice, D. L., Saavalainen, P., Sands, B., Sartor, R. B., Schiff, E. R., Schreiber, S., Schumm, L. P., Segal, A. W., Seksik, P., Shawky, R.

مصطلحات موضوعية: Crihn disease, exome sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/36038634; info:eu-repo/semantics/altIdentifier/wos/WOS:000847272000001; volume:54; issue:9; firstpage:1275; lastpage:1283; numberofpages:9; journal:NATURE GENETICS; https://hdl.handle.net/11573/1685994; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137084709

الاتاحة: https://hdl.handle.net/11573/1685994
https://doi.org/10.1038/s41588-022-01156-2

المؤلفون: Fu J. M., Satterstrom F. K., Peng M., Brand H., Collins R. L., Dong S., Wamsley B., Klei L., Wang L., Hao S. P., Stevens C. R., Cusick C., Babadi M., Banks E., Collins B., Dodge S., Gabriel S. B., Gauthier L., Lee S. K., Liang L., Ljungdahl A., Mahjani B., Sloofman L., Smirnov A. N., Barbosa M., Betancur C., Brusco A., Chung B. H. Y., Cook E. H., Cuccaro M. L., Domenici E., Ferrero G. B., Gargus J. J., Herman G. E., Hertz-Picciotto I., Maciel P., Manoach D. S., Passos-Bueno M. R., Persico A. M., Renieri A., Sutcliffe J. S., Tassone F., Trabetti E., Campos G., Cardaropoli S., Carli D., Chan M. C. Y., Fallerini C., Giorgio E., Girardi A. C., Hansen-Kiss E., Lee S. L., Lintas C., Ludena Y., Nguyen R., Pavinato L., Pericak-Vance M., Pessah I. N., Schmidt R. J., Smith M., Costa C. I. S., Trajkova S., Wang J. Y. T., Yu M. H. C., Aleksic B., Artomov M., Benetti E., Biscaldi-Schafer M., Borglum A. D., Carracedo A., Chiocchetti A. G., Coon H., Doan R. N., Fernandez-Prieto M., Freitag C. M., Gerges S., Guter S., Hougaard D. M., Hultman C. M., Jacob S., Kaartinen M., Kolevzon A., Kushima I., Lehtimaki T., Rizzo C. L., Maltman N., Manara M., Meiri G., Menashe I., Miller J., Minshew N., Mosconi M., Ozaki N., Palotie A., Parellada M., Puura K., Reichenberg A., Sandin S., Scherer S. W., Schlitt S., Schmitt L., Schneider-Momm K., Siper P. M., Suren P., Sweeney J. A., Teufel K., del Pilar Trelles M., Weiss L. A., Yuen R., Cutler D. J., De Rubeis S., Buxbaum J. D., Daly M. J., Devlin B., Roeder K., Sanders S. J., Talkowski M. E.

المساهمون: Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A. N., Barbosa, M., Betancur, C., Brusco, A., Chung, B. H. Y., Cook, E. H., Cuccaro, M. L., Domenici, E., Ferrero, G. B., Gargus, J. J., Herman, G. E., Hertz-Picciotto, I., Maciel, P., Manoach, D. S., Passos-Bueno, M. R., Persico, A. M., Renieri, A., Sutcliffe, J. S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M. C. Y., Fallerini, C., Giorgio, E., Girardi, A. C., Hansen-Kiss, E., Lee, S. L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I. N., Schmidt, R. J., Smith, M., Costa, C. I. S., Trajkova, S., Wang, J. Y. T., Yu, M. H. C., Aleksic, B., Artomov, M., Benetti, E., Biscaldi-Schafer, M., Borglum, A. D., Carracedo, A., Chiocchetti, A. G., Coon, H., Doan, R. N., Fernandez-Prieto, M., Freitag, C. M., Gerges, S., Guter, S., Hougaard, D. M., Hultman, C. M., Jacob, S., Kaartinen, M., Kolevzon, A., Kushima, I., Lehtimaki, T., Rizzo, C. L., Maltman, N., Manara, M., Meiri, G., Menashe, I., Miller, J., Minshew, N., Mosconi, M., Ozaki, N., Palotie, A., Parellada, M., Puura, K., Reichenberg, A., Sandin, S., Scherer, S. W., Schlitt, S.

مصطلحات موضوعية: DNA Copy Number Variation, Genetic Predisposition to Disease, Human, Mutation, Autism Spectrum Disorder, Autistic Disorder

Relation: info:eu-repo/semantics/altIdentifier/pmid/35982160; info:eu-repo/semantics/altIdentifier/wos/WOS:000842689300001; volume:54; issue:9; firstpage:1320; lastpage:1331; numberofpages:12; journal:NATURE GENETICS; https://hdl.handle.net/11571/1466266; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136292014

الاتاحة: https://hdl.handle.net/11571/1466266
https://doi.org/10.1038/s41588-022-01104-0

المؤلفون: J. M., Fu, Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A. N., Barbosa, M., Betancur, C., Brusco, A., Chung, B. H. Y., Cook, E. H., Cuccaro, M. L., Domenici, E., Ferrero, G. B., Gargus, J. J., Herman, G. E., Hertz-Picciotto, I., Maciel, P., Manoach, D. S., Passos-Bueno, M. R., Persico, A., Renieri, A., Sutcliffe, J. S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M. C. Y., Fallerini, C., Giorgio, E., Girardi, A. C., Hansen-Kiss, E., Lee, S. L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I. N., Schmidt, R. J., Smith, M., Costa, C. I. S., Trajkova, S., Wang, J. Y. T., M. H. C., Yu, Aleksic, B., Artomov, M., Benetti, E., Biscaldi-Schafer, M., Borglum, A. D., Carracedo, A., Chiocchetti, A. G., Coon, H., Doan, R. N., Fernandez-Prieto, M., Freitag, C. M., Gerges, S., Guter, S., Hougaard, D. M., Hultman, C. M., Jacob, S., Kaartinen, M., Kolevzon, A., Kushima, I., Lehtimaki, T., Rizzo, C. L., Maltman, N., Manara, M., Meiri, G., Menashe, I., Miller, J., Minshew, N., Mosconi, M., Ozaki, N., Palotie, A., Parellada, M., Puura, K., Reichenberg, A., Sandin, S., Scherer, S. W., Schlitt, S., Schmitt, L., Schneider-Momm, K., Siper, P. M., Suren, P., Sweeney, J. A., Teufel, K., del Pilar Trelles, M., Weiss, L. A., Yuen, R., Cutler, D. J., De Rubeis, S., Buxbaum, J. D., Daly, M. J., Devlin, B., Roeder, K., Sanders, S. J., Talkowski, M. E.

المساهمون: Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Carnegie Mellon University [Pittsburgh] (CMU), Harvard Medical School [Boston] (HMS), University of California [San Francisco] (UC San Francisco), University of California (UC), University of California [Los Angeles] (UCLA), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Icahn School of Medicine at Mount Sinai [New York] (MSSM), 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), Università degli studi di Torino = University of Turin (UNITO), Azienda Ospedalerio - Universitaria Città della Salute e della Scienza di Torino = University Hospital Città della Salute e della Scienza di Torino, The University of Hong Kong (HKU), University of Illinois [Chicago] (UIC), University of Illinois System, University of Miami Leonard M. Miller School of Medicine (UMMSM), University of Trento [Trento], University of California [Irvine] (UC Irvine), Nationwide Children's Hospital, University of California [Davis] (UC Davis), Universidade do Minho = University of Minho [Braga], Massachusetts General Hospital [Boston, MA, USA], Escola Politecnica da Universidade de Sao Paulo [Sao Paulo], Università degli Studi di Messina = University of Messina (UniMe), Università degli Studi di Siena = University of Siena (UNISI), Azienda Ospedaliera Universitaria Senese, Vanderbilt University [Nashville], Vanderbilt University School of Medicine [Nashville], Università degli studi di Verona = University of Verona (UNIVR), University of Texas Health Science Center, The University of Texas Health Science Center at Houston (UTHealth), Università Campus Bio-Medico di Roma / University Campus Bio-Medico of Rome ( UCBM), Emory University School of Medicine, Emory University [Atlanta, GA], Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium : Branko Aleksic, Mykyta Artomov, Elisa Benetti, Monica Biscaldi-Schafer, Anders D Børglum, Angel Carracedo, Andreas G Chiocchetti, Hilary Coon, Ryan N Doan, Montserrat Fernández-Prieto, Christine M Freitag, Sherif Gerges, Stephen Guter, David M Hougaard, Christina M Hultman, Suma Jacob, Miia Kaartinen, Alexander Kolevzon, Itaru Kushima, Terho Lehtimäki, Caterina Lo Rizzo, Nell Maltman, Marianna Manara, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Norio Ozaki, Aarno Palotie, Mara Parellada, Kaija Puura, Abraham Reichenberg, Sven Sandin, Stephen W Scherer, Sabine Schlitt, Lauren Schmitt, Katja Schneider-Momm, Paige M Siper, Pål Suren, John A Sweeney, Karoline Teufel, Maria Del Pilar Trelles, Lauren A Weiss, Ryan Yuen., Betancur, Catalina

المصدر: Nature genetics, vol 54, iss 9
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Nat Genet
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Broad Institute Center for Common Disease Genomics, Autism Sequencing Consortium, DNA Copy Number Variations, Autism Spectrum Disorder, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Autism, Intellectual and Developmental Disabilities (IDD), iPSYCH-BROAD Consortium, autism spectrum disorders, disease gene, copy number variants, neuropsychiatric disorders, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, GENOMAS, Medical and Health Sciences, Article, Clinical Research, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Autistic Disorder, Aetiology, Genetic association study, Pediatric, Human Genome, Neurodevelopmental disorders, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Biological Sciences, Autism spectrum disorders, Brain Disorders, Mental Health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Gene expression, Biotechnology, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272fcce2991b63297b66fd9e9849ad8
http://hdl.handle.net/11562/1073647

المؤلفون: Mondal, K., Ramachandran, D., Patel, V. C., Hagen, K. R., Bose, P., Cutler, D. J., Zwick, M. E.

المصدر: Human Molecular Genetics ; volume 21, issue 19, page 4356-4364 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/dds267
http://academic.oup.com/hmg/article-pdf/21/19/4356/17257101/dds267.pdf

المؤلفون: Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L.

المصدر: Human Molecular Genetics ; volume 18, issue 9, page 1624-1632 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddp080
https://academic.oup.com/hmg/article/18/9/1624/2527194/Origins-distribution-and-expression-of-the-Duarte2

المؤلفون: Willour, V L, Chen, H, Toolan, J, Belmonte, P, Cutler, D J, Goes, F S, Zandi, P P, Lee, R S, MacKinnon, D F, Mondimore, F M, Schweizer, B, DePaulo, J R, Gershon, E S, McMahon, F J, Potash, J B

المصدر: Molecular Psychiatry ; volume 14, issue 3, page 261-268 ; ISSN 1359-4184 1476-5578

الاتاحة: http://dx.doi.org/10.1038/sj.mp.4002141
https://www.nature.com/articles/4002141.pdf
https://www.nature.com/articles/4002141

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: Cutler, D. J.

مصطلحات موضوعية: 615.1

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.452829

المؤلفون: Thomas, J. W., Touchman, J. W., Blakesley, R. W., Bouffard, G. G., Beckstrom-Sternberg, S. M., Margulies, E. H., Blanchette, M., Siepel, A. C., Thomas, P. J., McDowell, J. C., Maskeri, B., Hansen, N. F., Schwartz, M. S., Weber, R. J., Kent, W. J., Karolchik, D., Bruen, T. C., Bevan, R., Cutler, D. J., Schwartz, S., Elnitski, L., Idol, J. R., Prasad, A. B., Lee-Lin, S.-Q., Maduro, V. V. B., Summers, T. J., Portnoy, M. E., Dietrich, N. L., Akhter, N., Ayele, K., Benjamin, B., Cariaga, K., Brinkley, C. P., Brooks, S. Y., Granite, S., Guan, X., Gupta, J., Haghighi, P., Ho, S.-L., Huang, M. C., Karlins, E., Laric, P. L., Legaspi, R., Lim, M. J., Maduro, Q. L., Masiello, C. A., Mastrian, S. D., McCloskey, J. C., Pearson, R., Stantripop, S., Tiongson, E. E., Tran, J. T., Tsurgeon, C., Vogt, J. L., Walker, M. A., Wetherby, K. D., Wiggins, L. S., Young, A. C., Zhang, L.-H., Osoegawa, K., Zhu, B., Zhao, B., Shu, C. L., De Jong, P. J., Lawrence, C. E., Smit, A. F., Chakravarti, A., Haussler, D., Green, P., Miller, W., Green, E. D.

Relation: https://doi.org/10.1038/nature01858; oai:zenodo.org:1233265

الاتاحة: https://doi.org/10.1038/nature01858

المؤلفون: Robin, G. Charles de Q., Russell, R. J., Cutler, D. J., Oakeshott, J. G.

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://mbe.oxfordjournals.org/cgi/content/short/17/4/563

الاتاحة: http://mbe.oxfordjournals.org/cgi/content/short/17/4/563

المؤلفون: Robin, G. Charles de Q., Russell, R. J., Cutler, D. J., Oakeshott, J. G.

المصدر: Molecular Biology and Evolution ; volume 17, issue 4, page 563-575 ; ISSN 1537-1719 0737-4038

مصطلحات موضوعية: Genetics, Molecular Biology, Ecology, Evolution, Behavior and Systematics

الاتاحة: http://dx.doi.org/10.1093/oxfordjournals.molbev.a026336
http://academic.oup.com/mbe/article-pdf/17/4/563/23445516/mbev_17_04_0563.pdf

المؤلفون: Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Yu Yang, Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., Mcginn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, Stefano, Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M., Bena, F. S., Antshel, K. M., Fremont, W., Kates, W. R., Belzeaux, R., Busa, T., Philip, N., Campbell, L. E., Mccabe, K. L., Hooper, S. R., Schoch, K., Shashi, V., Simon, T. J., Tassone, F., Arango, C., Fraguas, D., Garcia-Minaur, S., Morey-Canyelles, J., Rosell, J., Suner, D. H., Raventos-Simic, J., Epstein, M. P., Williams, N. M., Bassett, A. S., Zhao Y., Vicari S. (ORCID:0000-0002-5395-2262)

مصطلحات الفهرس: Schizophrenia, genetic factors, 22q11.2 deletion syndrome, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/178825
info:eu-repo/semantics/altIdentifier/pmid/32015465
info:eu-repo/semantics/altIdentifier/wos/WOS:000510821800003
volume:2020
issue:february
firstpage:N/A
lastpage:N/A
issueyear:2020
journal:MOLECULAR PSYCHIATRY

المؤلفون: McLACHLAN, A.J., TETT, S. E., CUTLER, D. J., DAY, R. O.

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://rheumatology.oxfordjournals.org/cgi/content/short/33/3/235; http://dx.doi.org/10.1093/rheumatology/33.3.235

الاتاحة: http://rheumatology.oxfordjournals.org/cgi/content/short/33/3/235
https://doi.org/10.1093/rheumatology/33.3.235

المؤلفون: Doan, R. N., Lim, E. T., De Rubeis, S., Betancur, C., Cutler, D. J., Chiocchetti, A. G., Overman, L. M., Soucy, A., Goetze, S., Asc, Consortium, Brusco, A., Curró, A., Fallerini, C., Lopergolo, D., Lintas, C., Domenici, E., Dalla Bernardina, B., Ferrero, G. B., Giorgio, E., Trabetti, E., Renieri, A., Riberi, E., Freitag, C. M., Daly, M. J., Walsh, C. A., Buxbaum, J. D., T. W., Yu

المساهمون: Dupuis, Christine, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Icahn School of Medicine at Mount Sinai [New York] (MSSM), 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), Emory University School of Medicine, Emory University [Atlanta, GA], Universitätsklinikum Frankfurt, Goethe-University Frankfurt am Main, Newcastle University [Newcastle], Broad Institute [Cambridge], Harvard University [Cambridge]-Massachusetts Institute of Technology (MIT), Massachusetts General Hospital [Boston], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), Autism Sequencing Consortium, Neurosciences Paris Seine (NPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Génétique de l'autisme = Genetics of Autism (NPS-01), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-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 National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-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 National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Massachusetts Institute of Technology (MIT)-Harvard University [Cambridge]

المصدر: Nature genetics
Nature Genetics
Nature Genetics, 2019, 51 (7), pp.1092-1098. ⟨10.1038/s41588-019-0433-8⟩
Nature Genetics, Nature Publishing Group, 2019, 51 (7), pp.1092-1098. ⟨10.1038/s41588-019-0433-8⟩

مصطلحات موضوعية: Male, genetic structures, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Allelic Imbalance, medicine.disease_cause, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, Missense mutation, MESH: Cohort Studies, Exome sequencing, MESH: Autism Spectrum Disorder, Genetics, 0303 health sciences, Mutation, Genome, biology, SLC1A1, MESH: Genetic Predisposition to Disease, MESH: Case-Control Studies, [SDV] Life Sciences [q-bio], Case-Control Studies, Female, Genes, Recessive, Genome, Human, Humans, Genetic Predisposition to Disease, Mutation, Missense, Autism spectrum disorder, Human, Article, 03 medical and health sciences, MESH: Whole Exome Sequencing, mental disorders, Exome Sequencing, medicine, Recessive, Gene, MESH: Genes, Recessive, MESH: Genome, Human, 030304 developmental biology, MESH: Mutation, Missense, MESH: Humans, MESH: Allelic Imbalance, Case-control study, medicine.disease, MESH: Male, Genes, biology.protein, Missense, MESH: Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb333baad50066166a684bdb41b8d2fb
https://pubmed.ncbi.nlm.nih.gov/31209396

المؤلفون: McLACHLAN, A. J., TETT, S. E., CUTLER, D. J., DAY, R. O.

المصدر: British Journal of Clinical Pharmacology ; volume 36, issue 5, page 405-411 ; ISSN 0306-5251 1365-2125

الاتاحة: http://dx.doi.org/10.1111/j.1365-2125.1993.tb00388.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2125.1993.tb00388.x
https://bpspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2125.1993.tb00388.x

المؤلفون: Venkateswaran, S., Prince, J., Cutler, D. J., Marigorta, U. M., Okou, D. T., Prahalad, S., Mack, D., Boyle, B., Markowitz, J., Kugathasan, S., +20 additional authors

المصدر: Journal Articles

مصطلحات موضوعية: Pediatrics

وصف الملف: application/pdf

Relation: https://academicworks.medicine.hofstra.edu/publications/4674; https://academicworks.medicine.hofstra.edu/context/publications/article/5675/viewcontent/InflammBowelDis2018v24p829.pdf

الاتاحة: https://academicworks.medicine.hofstra.edu/publications/4674
https://academicworks.medicine.hofstra.edu/context/publications/article/5675/viewcontent/InflammBowelDis2018v24p829.pdf

المؤلفون: Cutler, D. J., Zwick, M. E., Okou, D. T., Prahalad, S., Walters, T., Guthery, S. L., Dubinsky, M., Baldassano, R., Markowitz, J., Kugathasan, S., +24 additional authors

المصدر: Journal Articles

مصطلحات موضوعية: Pediatrics

وصف الملف: application/pdf

Relation: https://academicworks.medicine.hofstra.edu/publications/2749; https://academicworks.medicine.hofstra.edu/context/publications/article/3750/viewcontent/PLOSOne2015v10pE0128074.pdf

الاتاحة: https://academicworks.medicine.hofstra.edu/publications/2749
https://academicworks.medicine.hofstra.edu/context/publications/article/3750/viewcontent/PLOSOne2015v10pE0128074.pdf

المؤلفون: Piggins, H. D., Coogan, A. N., Cutler, D. J., Reed, H. E.

المصدر: Biological Rhythms ; page 164-180 ; ISBN 9783662060872 9783662060858

الاتاحة: http://dx.doi.org/10.1007/978-3-662-06085-8_14
http://link.springer.com/content/pdf/10.1007/978-3-662-06085-8_14