المؤلفون: Einson, Jonah, Glinos, Dafni, Boerwinkle, Eric, Castaldi, Peter, Darbar, Dawood, De Andrade, Mariza, Ellinor, Patrick, Fornage, Myriam, Gabriel, Stacey, Germer, Soren, Gibbs, Richard, Hersh, Craig P., Johnsen, Jill, Kaplan, Robert, Konkle, Barbara A., Kooperberg, Charles, Nassir, Rami, Loos, Ruth J.F., Meyers, Deborah A., Mitchell, Braxton D., Psaty, Bruce, Vasan, Ramachandran S., Rich, Stephen S., Rienstra, Michael, Rotter, Jerome I., Saferali, Aabida, Shoemaker, Moore Benjamin, Silverman, Edwin, Smith, Albert Vernon, Mohammadi, Pejman, Castel, Stephane E., Iossifov, Ivan, Lappalainen, Tuuli

المصدر: NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium , Einson , J , Glinos , D , Boerwinkle , E , Castaldi , P , Darbar , D , De Andrade , M , Ellinor , P , Fornage , M , Gabriel , S , Germer , S , Gibbs , R , Hersh , C P , Johnsen , J , Kaplan , R , Konkle , B A , Kooperberg , C , Nassir , R , Loos , R J F , Meyers , D A , Mitchell , B D , Psaty , B , ....

مصطلحات موضوعية: alternative splicing, functional genomics, GTEx, incomplete penetrance, QTLs, Simons Simplex Collection, statistical genetics, TOPMed

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/cf66ac78-1667-4eda-8d93-2f569eba585a
https://research.rug.nl/en/publications/cf66ac78-1667-4eda-8d93-2f569eba585a
https://doi.org/10.1093/genetics/iyad115
https://pure.rug.nl/ws/files/864171903/iyad115.pdf
http://www.scopus.com/inward/record.url?scp=85167482311&partnerID=8YFLogxK

المؤلفون: Bishop, Somer L, Farmer, Cristan, Bal, Vanessa, Robinson, Elise B, Willsey, A Jeremy, Werling, Donna M, Havdahl, Karoline Alexandra, Sanders, Stephan J, Thurm, Audrey

المصدر: American Journal of Psychiatry. 174(6)

مصطلحات موضوعية: Biological Psychology, Psychology, Genetic Testing, Clinical Research, Mental Health, Behavioral and Social Science, Brain Disorders, Autism, Pediatric Research Initiative, Intellectual and Developmental Disabilities (IDD), Genetics, Basic Behavioral and Social Science, Pediatric, 2.3 Psychological, social and economic factors, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Autism Spectrum Disorder, Case-Control Studies, Child, Child, Preschool, DNA Copy Number Variations, DNA Mutational Analysis, Developmental Disabilities, Female, Genotype, Humans, Intelligence, Language Development Disorders, Likelihood Functions, Male, Phenotype, Prognosis, Reference Values, De Novo Mutations, Idiopathic ASD, Simons Simplex Collection, Syndromic ASD, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Clinical and health psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4vs5x7m8

المؤلفون: Warrier, Varun, Zhang, Xinhe, Reed, Patrick, Havdahl, Alexandra, Moore, Tyler M, Cliquet, Freddy, Leblond, Claire S, Rolland, Thomas, Rosengren, Anders, Rowitch, David H, Hurles, Matthew E, Geschwind, Daniel H, Børglum, Anders D, Robinson, Elise B, Grove, Jakob, Martin, Hilary C, Bourgeron, Thomas, Baron-Cohen, Simon

المصدر: Warrier , V , Zhang , X , Reed , P , Havdahl , A , Moore , T M , Cliquet , F , Leblond , C S , Rolland , T , Rosengren , A , Rowitch , D H , Hurles , M E , Geschwind , D H , Børglum , A D , Robinson , E B , Grove , J , Martin , H C , Bourgeron , T , Baron-Cohen , S , EU-AIMS LEAP , iPSYCH-Autism Working Group & Spectrum 10K and APEX Consortia 2022 , ' Genetic correlates of phenotypic ....

مصطلحات موضوعية: AGE, ARCHITECTURE, CHILDREN, COMMON, DE-NOVO MUTATIONS, GENOME-WIDE ASSOCIATION, IDENTIFICATION, RISK, SIMONS SIMPLEX COLLECTION, SPECTRUM DISORDER

وصف الملف: application/pdf

الاتاحة: https://pure.au.dk/portal/en/publications/57511273-70e3-4a0a-a10c-9790bc131190
https://doi.org/10.1038/s41588-022-01072-5
https://pure.au.dk/ws/files/339108170/s41588-022-01072-5.pdf

المؤلفون: Gamsiz, Ece D, Viscidi, Emma W, Frederick, Abbie M, Nagpal, Shailender, Sanders, Stephan J, Murtha, Michael T, Schmidt, Michael, Consortium, Simons Simplex Collection Genetics, Triche, Elizabeth W, Geschwind, Daniel H, State, Matthew W, Istrail, Sorin, Cook, Edwin H, Devlin, Bernie, Morrow, Eric M

المصدر: American Journal of Human Genetics. 93(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Mental Health, Brain Disorders, Clinical Research, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Mental health, Child, Child Development Disorders, Pervasive, Chromosomes, Human, Female, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetics, Population, Homozygote, Humans, Intellectual Disability, Intelligence Tests, Male, Pedigree, Phenotype, Sex Factors, Simons Simplex Collection Genetics Consortium, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2cr2b10z

المؤلفون: Shan V. Andrews, Brooke Sheppard, Gayle C. Windham, Laura A. Schieve, Diana E. Schendel, Lisa A. Croen, Pankaj Chopra, Reid S. Alisch, Craig J. Newschaffer, Stephen T. Warren, Andrew P. Feinberg, M. Daniele Fallin, Christine Ladd-Acosta

المصدر: Molecular Autism, Vol 9, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: DNA methylation, Epigenome, Autism spectrum disorders, Peripheral blood, Study to Explore Early Development, Simons Simplex Collection, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-018-0224-6; https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/b59941b0d8a9406dae4c1ce6a87647b3

المؤلفون: Psychiat Genomics Consortium, BUPGEN, 23andMe Res Team, Grove, Jakob, Ripke, Stephan, Als, Thomas D., Palotie, Aarno, Daly, Mark J.

المساهمون: Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, SIMONS SIMPLEX COLLECTION, LD SCORE REGRESSION, DE-NOVO, SYNAPTIC PLASTICITY, NEURITE OUTGROWTH, CELL-SURFACE, LOCI, HERITABILITY, METAANALYSIS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: The iPSYCH project is funded by the Lundbeck Foundation (R102-A9118 and R155-2014-1724) and the universities and university hospitals of Aarhus and Copenhagen. Genotyping of iPSYCH and PGC samples was supported by grants from the Lundbeck Foundation, the Stanley Foundation, the Simons Foundation (SFARI 311789 to M.J.D.), and NIMH (5U01MH094432-02 to M.J.D.). The Danish National Biobank resource was supported by the Novo Nordisk Foundation. Data handling and analysis on the GenomeDK HPC facility was supported by NIMH (1U01MH109514-01 to M.C.O.D and A.D.B.). High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to A.D.B.). S.D.R. and J.D.B. were supported by NIH grants MH097849 (to J.D.B.) and MH111661 (to J.D.B.), and by the Seaver Foundation (to S.D.R. and J.D.B.). J. Martine was supported by the Wellcome Trust (grant 106047). O.A.A. received funding from the Research Council of Norway (213694, 223273, 248980, and 248778), Stiftelsen KG Jebsen, and South-East Norway Health Authority. We thank the research participants and employees of 23andMe for making this work possible.; Psychiat Genomics Consortium , BUPGEN , 23andMe Res Team , Grove , J , Ripke , S , Als , T D , Palotie , A & Daly , M J 2019 , ' Identification of common genetic risk variants for autism spectrum disorder ' , Nature Genetics , vol. 51 , no. 3 , pp. 431-+ . https://doi.org/10.1038/s41588-019-0344-8; ORCID: /0000-0002-2527-5874/work/97266338; http://hdl.handle.net/10138/313330; 9bbb3e64-2ed8-4e2f-ba66-b2c6a0af50f9; 85062110842; 000459947200012

الاتاحة: http://hdl.handle.net/10138/313330

المصدر: Psychiat Genomics Consortium , BUPGEN & 23andMe Res Team 2019 , ' Identification of common genetic risk variants for autism spectrum disorder ' , Nature Genetics , vol. 51 , no. 3 , pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, SIMONS SIMPLEX COLLECTION, LD SCORE REGRESSION, DE-NOVO, SYNAPTIC PLASTICITY, NEURITE OUTGROWTH, CELL-SURFACE, LOCI, HERITABILITY, METAANALYSIS

الاتاحة: https://hdl.handle.net/11370/8daf824c-f20c-4279-8f64-eb0beeb52b5b
https://research.rug.nl/en/publications/8daf824c-f20c-4279-8f64-eb0beeb52b5b
https://doi.org/10.1038/s41588-019-0344-8
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454898/

المؤلفون: Weiner, DJ, Wigdor, EM, Ripke, S, Walters, RK, Kosmicki, JA, Grove, J, Samocha, KE, Goldstein, JI, Okbay, A, Bybjerg-Grauholm, J, Werge, T, Hougaard, DM, Taylor, J, Skuse, D, Devlin, B, Anney, R, Sanders, SJ, Bishop, S, Mortensen, PB, Borglum, AD, Smith, GD, Daly, MJ, Robinson, EB, Baekvad-Hansen, M, Dumont, A, Hansen, C, Hansen, TF, 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, Klei, L, Lee, PH, Medland, SE, Neale, B, Weiss, LA, Zwaigenbaum, L, Yu, TW, Wittemeyer, K, Willsey, AJ, Wijsman, EM, Wassink, TH, Waltes, R, Walsh, CA, Wallace, S, Vorstman, JAS, Vieland, VJ, Vicente, AM, van Engeland, H, Tsang, K, Thompson, AP, Szatmari, P, Svantesson, O, Steinberg, S, Stefansson, K, Stefansson, H, State, MW, Soorya, L, Silagadze, T, Scherer, SW, Schellenberg, GD, Sandin, S, Saemundsen, E, Rouleau, GA, Roge, B, Roeder, K, Roberts, W, Reichert, J, Reichenberg, A, Rehnstrom, K, Regan, R, Poustka, F, Poultney, CS, Piven, J, Pinto, D, Pericak-Vance, MA, Pejovic-Milovancevic, M, Pedersen, MG, Pedersen, CB, Paterson, AD, Parr, JR, Pagnamenta, AT, Oliveira, G, Nurnberger, JI, Murtha, MT, Mouga, S, Morrow, EM, De Luca, DM, Monaco, AP, Minshew, N, Merikangas, A, McMahon, WM, McGrew, SG, Martsenkovsky, I, Martin, DM, Mane, SM, Magnusson, P, Magalhaes, T, Maestrini, E, Lowe, JK, Lord, C, Levitt, P, Martin, CL, Ledbetter, DH, Leboyer, M, Le Couteur, AS, Ladd-Acosta, C, Kolevzon, A, Klauck, SM, Jacob, S, Iliadou, B, Hultman, CM, Hertz-Picciotto, I, Hendren, R, Hansen, CS, Haines, JL, Guter, SJ, Grice, DE, Green, JM, Green, A, Goldberg, AP, Gillberg, C, Gilbert, J, Gallagher, L, Freitag, CM, Fombonne, E, Folstein, SE, Fernandez, B, Fallin, MD, Ercan-Sencicek, AG, Ennis, S, Duque, F, Duketis, E, Delorme, R, De Rubeis, S, De Jonge, MV, Dawson, G, Cuccaro, ML, Correia, CT, Conroy, J, Conceicao, IC, Chiocchetti, AG, Celestino-Soper, PBS, Casey, J, Cantor, RM, Cafe, C, Brennan, S, Bourgeron, T, Bolton, PF, Boelte, S, Bolshakova, N, Betancur, C, Bernier, R, Beaudet, AL, Battaglia, A, Bal, VH, Baird, G, Bailey, AJ, Bader, JS, Bacchelli, E, Anagnostou, E, Amaral, D, Almeida, J, Buxbaum, JD, Chakravarti, A, Cook, EH, Coon, H, Geschwind, DH, Gill, M, Hakonarson, H, Hallmayer, J, Palotie, A, Santangelo, S, Sutcliffe, JS, Arking, DE

المصدر: Nature Genetics , 49 (7) pp. 978-985. (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, GENOME-WIDE ASSOCIATION, SIMONS SIMPLEX COLLECTION, GENETIC RISK, DE-NOVO, GENERAL-POPULATION, VARIANTS, MUTATIONS, INSIGHTS, DISEASE, BIOLOGY

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10047092/1/nihms868387.pdf; https://discovery.ucl.ac.uk/id/eprint/10047092/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10047092/1/nihms868387.pdf
https://discovery.ucl.ac.uk/id/eprint/10047092/

المؤلفون: Marnane, Aidan

المساهمون: Simpson, Ian, Armstrong, Douglas, Engineering and Physical Sciences Research Council (EPSRC), University of Edinburgh

مصطلحات موضوعية: Similarity Network, Network Analysis, Clustering, Network Construction, Multi-Modal Integration, Partial Modalities, Community Detection, Similarity Network Fusion, K-Nearest Neighbours, Synthetic Data, Simons Simplex Collection, The Cancer Genome Atlas, SSC, TCGA, KNN, SNF

وصف الملف: application/pdf

Relation: https://hdl.handle.net/1842/42247; http://dx.doi.org/10.7488/era/4967

الاتاحة: https://hdl.handle.net/1842/42247
https://doi.org/10.7488/era/4967

المؤلفون: Warrier, Varun, Zhang, Xinhe, Reed, Patrick, Havdahl, Alexandra, Moore, Tyler M., Cliquet, Freddy, Leblond, Claire S., Rolland, Thomas, Rosengren, Anders, Caceres, Antonia San Jose, Hayward, Hannah, Crawley, Daisy, Faulkner, Jessica, Sabet, Jessica, Ellis, Claire, Oakley, Bethany, Loth, Eva, Charman, Tony, Murphy, Declan, Holt, Rosemary, Waldman, Jack, Upadhyay, Jessica, Gunby, Nicola, Lai, Meng-Chuan, Renouf, Gwilym, Ruigrok, Amber, Taylor, Emily, Ziauddeen, Hisham, Deakin, Julia, di Bruttopilo, Sara Ambrosino, van Dijk, Sarai, Rijks, Yvonne, Koops, Tabitha, Douma, Miriam, Spaan, Alyssia, Selten, Iris, Steffers, Maarten, van Themaat, Anna Ver Loren, Bast, Nico, Baumeister, Sarah, O’Dwyer, Larry, Bours, Carsten, Rausch, Annika, von Rhein, Daniel, Cornelissen, Ineke, de Bruin, Yvette, Graauwmans, Maartje, Kostrzewa, Elzbieta, Cauvet, Elodie, Tammimies, Kristiina, Sitnikow, Rouslan, Dumas, Guillaume, Kim, Yang-Min, Bourgeron, Thomas, Hougaard, David M., Bybjerg-Grauholm, Jonas, Werge, Thomas, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Adhya, Dwaipayan, Alamanza, Armandina, Allison, Carrie, Garvey, Isabelle, Parsons, Tracey, Smith, Paula, Tsompanidis, Alex, Burton, Graham J., Heazell, Alexander E. P., Gabis, Lidia V., Biron-Shental, Tal, Lancaster, Madeline A., Srivastava, Deepak P., Mill, Jonathan, Rowitch, David H., Hurles, Matthew E., Geschwind, Daniel H., Børglum, Anders D., Robinson, Elise B., Grove, Jakob, Martin, Hilary C., Baron-Cohen, Simon

المساهمون: University of Cambridge [UK] (CAM), Lovisenberg Diakonale Sykehus - Lovisenberg Diaconal Hospital [Oslo], Norwegian Institute of Public Health [Oslo] (NIPH), University of Oslo (UiO), University of Pennsylvania [Philadelphia], Children’s Hospital of Philadelphia (CHOP ), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Copenhagen University Hospital, The Wellcome Trust Sanger Institute [Cambridge], University of California [Los Angeles] (UCLA), University of California, Aarhus University [Aarhus], Broad Institute [Cambridge], Harvard University [Cambridge]-Massachusetts Institute of Technology (MIT), Massachusetts General Hospital [Boston], Harvard T.H. Chan School of Public Health, V.W. is funded by St. Catharine’s College, Cambridge. This study was funded by grants to SBC from the Medical Research Council, the Wellcome Trust, the Autism Research Trust, the Templeton World Charity Foundation, and to T.B. from the Institut Pasteur, the CNRS, The Bettencourt-Schueller and the Cognacq-Jay Foundations, the APHP and the Université de Paris. SBC was funded by the Autism Research Trust, the Wellcome Trust, the Templeton World Charitable Foundation, and the NIHR Biomedical Research Centre in Cambridge, during the period of this work. The Medical Research Council (MRC) funded the Cambridge Autism Research Database (CARD) that made this study possible. SBC also received funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU) under grant agreement No 777394. The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. His research was also supported by the National Institute of Health Research (NIHR) Applied Research Collaboration East of England (ARC EoE) programme. T.M.M. is supported by U.S. National Institutes of Mental Health (NIMH) grant MH117014. The views expressed are those of the authors, and not necessarily those of the NIHR, NHS or Department of Health and Social Care. We acknowledge with gratitude the generous support of Drs Dennis and Mireille Gillings in strengthening the collaboration between S.B.-C. and T.B., and between Cambridge University and the Institut Pasteur. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. The AIMS-2-TRIALS LEAP receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. A full list of the authors and affiliations in the AIMS-2-TRIALS LEAP group is provided in the Supplementary Information. The iPSYCH team was supported by grants from the Lundbeck Foundation (R102-A9118, R155-2014-1724 and R248-2017-2003), NIMH (1U01MH109514-01 to ADB) and the universities and university hospitals of Aarhus and Copenhagen. The Danish National Biobank resource was supported by the Novo Nordisk Foundation. High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to ADB). We thank Jonathan Sebat for sharing the de novo variant calls in the SPARK and SSC datasets., Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Warrier, Varun [0000-0003-4532-8571], Havdahl, Alexandra [0000-0002-9268-0423], Moore, Tyler M [0000-0002-1384-0151], Rosengren, Anders [0000-0002-6682-1288], Hurles, Matthew E [0000-0002-2333-7015], Geschwind, Daniel H [0000-0003-2896-3450], Børglum, Anders D [0000-0001-8627-7219], Grove, Jakob [0000-0003-2284-5744], Martin, Hilary C [0000-0002-4454-9084], Bourgeron, Thomas [0000-0001-8164-9220], Baron-Cohen, Simon [0000-0001-9217-2544], Apollo - University of Cambridge Repository, University of Pennsylvania, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of California (UC), Harvard University-Massachusetts Institute of Technology (MIT), S.B.-C. received funding from the Wellcome Trust (214322\Z\18\Z). For the purpose of open access, we have applied a CC BY public copyright licence to any author accepted manuscript version arising from this submission. S.B.-C. also received funding from the Autism Centre of Excellence, the SFARI, the Templeton World Charitable Fund, the MRC and the National Institute for Health Research Cambridge Biomedical Research Centre. The research was supported by the National Institute for Health Research Applied Research Collaboration East of England. Any views expressed are those of the author(s) and not necessarily those of the funder. Some of the results leading to this publication have received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement no. 777394 for the project AIMS-2-TRIALS. This joint undertaking receives support from the European Union’s Horizon 2020 research and innovation program and the EFPIA and Autism Speaks, Autistica and the SFARI. V.W. is funded by St. Catharine’s College, Cambridge. T.B. has received funding from the Institut Pasteur, the CNRS, the Bettencourt–Schueller and the Cognacq–Jay Foundations, the APHP and the Université de Paris Cité. We acknowledge with gratitude the generous support of D. and M. Gillings in strengthening the collaboration between S.B.-C. and T.B. and between Cambridge University and the Institut Pasteur. The iPSYCH team was supported by grants from the Lundbeck Foundation (R102-A9118, R155-2014-1724 and R248-2017-2003), the NIMH (1U01MH109514-01 to A.D.B.) and the universities and university hospitals of Aarhus and Copenhagen. The Danish National Biobank resource was supported by the Novo Nordisk Foundation. High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to A.D.B.). We thank J. Sebat for sharing the de novo variant calls in the SPARK and SSC datasets. We are grateful to all families at the participating SSC sites as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren and E. Wijsman). We are grateful to all families in the SPARK study, the SPARK clinical sites and SPARK staff.

المصدر: Warrier, V, Zhang, X, Reed, P, Havdahl, A, Moore, T M, Cliquet, F, Leblond, C S, Rolland, T, Rosengren, A, Caceres, A S J, Hayward, H, Crawley, D, Faulkner, J, Sabet, J, Ellis, C, Oakley, B, Loth, E, Charman, T, Murphy, D, Holt, R, Waldman, J, Upadhyay, J, Gunby, N, Lai, M C, Renouf, G, Ruigrok, A, Taylor, E, Ziauddeen, H, Deakin, J, di Bruttopilo, S A, van Dijk, S, Rijks, Y, Koops, T, Douma, M, Spaan, A, Selten, I, Steffers, M, van Themaat, A V L, Bast, N, Baumeister, S, O’Dwyer, L, Bours, C, Rausch, A, von Rhein, D, Cornelissen, I, de Bruin, Y, Graauwmans, M, Kostrzewa, E, Werge, T, Nordentoft, M, EU-AIMS LEAP, iPSYCH-Autism Working Group & Spectrum 10K and APEX Consortia 2022, ' Genetic correlates of phenotypic heterogeneity in autism ', Nature Genetics, vol. 54, no. 9, pp. 1293-1304 . https://doi.org/10.1038/s41588-022-01072-5
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1293-1304. ⟨10.1038/s41588-022-01072-5⟩
Warrier, V, Zhang, X, Reed, P, Havdahl, A, Moore, T M, Cliquet, F, Leblond, C S, Rolland, T, Rosengren, A, Rowitch, D H, Hurles, M E, Geschwind, D H, Børglum, A D, Robinson, E B, Grove, J, Martin, H C, Bourgeron, T, Baron-Cohen, S, EU-AIMS LEAP, iPSYCH-Autism Working Group & Spectrum 10K and APEX Consortia 2022, ' Genetic correlates of phenotypic heterogeneity in autism ', Nature Genetics, vol. 54, no. 9, pp. 1293-1304 . https://doi.org/10.1038/s41588-022-01072-5

مصطلحات موضوعية: Male, Autism Spectrum Disorder, CHILDREN, behavioral disciplines and activities, Developmental psychology, Correlation, 03 medical and health sciences, Nonverbal communication, AGE, Cognition, 0302 clinical medicine, Intellectual Disability, mental disorders, Genetics, medicine, Humans, Limited evidence, GENOME-WIDE ASSOCIATION, Autistic Disorder, Association (psychology), COMMON, SPECTRUM DISORDER, 030304 developmental biology, RISK, ARCHITECTURE, 0303 health sciences, IDENTIFICATION, [SCCO.NEUR]Cognitive science/Neuroscience, medicine.disease, Educational attainment, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Adaptive behaviour, Schizophrenia, Autism, Female, SIMONS SIMPLEX COLLECTION, Psychology, 030217 neurology & neurosurgery

وصف الملف: application/pdf; application/zip; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0687ffc588d04cb1a6b35682fd3b68
https://doi.org/10.1101/2020.07.21.20159228

المؤلفون: Andrews, Shan V, Sheppard, Brooke, Windham, Gayle C, Schieve, Laura A, Schendel, Diana E, Croen, Lisa A, Chopra, Pankaj, Alisch, Reid S, Newschaffer, Craig J, Warren, Stephen T, Feinberg, Andrew P, Fallin, M Daniele, Ladd-Acosta, Christine

المصدر: Andrews , S V , Sheppard , B , Windham , G C , Schieve , L A , Schendel , D E , Croen , L A , Chopra , P , Alisch , R S , Newschaffer , C J , Warren , S T , Feinberg , A P , Fallin , M D & Ladd-Acosta , C 2018 , ' Case-control meta-analysis of blood DNA methylation and autism spectrum disorder ' , Molecular Autism , vol. 9 , no. 1 , 40 . https://doi.org/10.1186/s13229-018-0224-6

مصطلحات موضوعية: Autism spectrum disorders, CONVERGENCE, DIAGNOSTIC OBSERVATION SCHEDULE, DNA methylation, EXPLORE EARLY DEVELOPMENT, Epigenome, FRAGILE-X-SYNDROME, GENE, GENOME-WIDE ASSOCIATION, HETEROGENEITY, INDIVIDUALS, MUTATIONS, Peripheral blood, RETT-SYNDROME, Simons Simplex Collection, Study to Explore Early Development, psy, envir

Relation: https://pure.au.dk/ws/files/130630753/Case_control_meta_analysis_of_blood_DNA_methylation_and_autism_spectrum_disorder_VOR_2018.pdf; https://pure.au.dk/portal/da/publications/casecontrol-metaanalysis-of-blood-dna-methylation-and-autism-spectrum-disorder(e25aafc7-f1e3-4dc5-816a-da66ae34e78a).html

الاتاحة: https://pure.au.dk/ws/files/130630753/Case_control_meta_analysis_of_blood_DNA_methylation_and_autism_spectrum_disorder_VOR_2018.pdf
https://pure.au.dk/portal/da/publications/casecontrol-metaanalysis-of-blood-dna-methylation-and-autism-spectrum-disorder(e25aafc7-f1e3-4dc5-816a-da66ae34e78a).html

المؤلفون: Donna M. Werling, Audrey Thurm, Elise B. Robinson, Stephen Sanders, Somer L. Bishop, Vanessa H. Bal, Karoline Alexandra Havdahl, Cristan Farmer, A. Jeremy Willsey

المصدر: Bishop, S L, Farmer, C, Bal, V, Robinson, E B, Willsey, A J, Werling, D M, Havdahl, K A, Sanders, S J & Thurm, A 2017, ' Identification of developmental and behavioral markers associated with genetic abnormalities in Autism Spectrum Disorder ', American Journal of Psychiatry, vol. 174, no. 6, pp. 576-585 . https://doi.org/10.1176/appi.ajp.2017.16101115
The American journal of psychiatry, vol 174, iss 6

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Autism Spectrum Disorder, Developmental Disabilities, Autism, DNA Mutational Analysis, Intelligence, Medical and Health Sciences, Idiopathic ASD, Syndromic ASD, 0302 clinical medicine, Reference Values, Genotype, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, Child, Genetics, Pediatric, Psychiatry, Likelihood Functions, Simons Simplex Collection, De Novo Mutations, Prognosis, Phenotype, Psychiatry and Mental health, Motor delay, Mental Health, Autism spectrum disorder, Child, Preschool, Female, social and economic factors, Psychology, Pediatric Research Initiative, Adolescent, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Basic Behavioral and Social Science, Article, 03 medical and health sciences, Clinical Research, 2.3 Psychological, Behavioral and Social Science, medicine, Humans, Language Development Disorders, Genetic Testing, Preschool, Loss function, Psychology and Cognitive Sciences, Case-control study, medicine.disease, Brain Disorders, 030104 developmental biology, Case-Control Studies, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a67e249596ea13416df9f88a97c6acb
https://hdl.handle.net/1983/4a1f1d9e-df88-48fc-aa4d-7d3424496ad1

مصطلحات موضوعية: Developmental Regression, Broad Autism Phenotype, Autism Spectrum Disorder, Simons Simplex Collection, Broad Autism Phenotype Questionnaire

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3a054dbb91844a100a0e74833d3cad70

المؤلفون: Hu, Hao, Coon, Hilary, Li, Man, Yandell, Mark, Huff, Chad

مصطلحات موضوعية: De novo mutations, Autism spectrum disorder, Simons Simplex Collection, Likelihood ratio test, Variant prioritization

Relation: http://genomemedicine.com/content/8/1/91

الاتاحة: http://genomemedicine.com/content/8/1/91

المؤلفون: Ece D. Gamsiz, Eric M. Morrow, Stephen Sanders, Bernie Devlin, Michael Schmidt, Elizabeth W. Triche, Shailender Nagpal, Edwin H. Cook, Michael T. Murtha, Daniel H. Geschwind, Sorin Istrail, Emma W. Viscidi, Matthew W. State, Abbie M. Frederick

المصدر: American journal of human genetics, vol 93, iss 1

مصطلحات موضوعية: Proband, Male, Candidate gene, Simons Simplex Collection Genetics Consortium, Autism, Runs of Homozygosity, Medical and Health Sciences, 0302 clinical medicine, Intellectual disability, Chromosomes, Human, 2.1 Biological and endogenous factors, Genetics(clinical), Heritability of autism, Aetiology, 10. No inequality, Child, Genetics (clinical), Genetics, Intelligence Tests, Pediatric, Genetics & Heredity, 0303 health sciences, Intelligence quotient, Homozygote, Biological Sciences, Pedigree, Phenotype, Mental Health, Genetic Diseases, Female, Human, Child Development Disorders, Intellectual and Developmental Disabilities (IDD), Population, behavioral disciplines and activities, Chromosomes, 03 medical and health sciences, Sex Factors, Clinical Research, Report, Intellectual Disability, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Genetic Association Studies, 030304 developmental biology, Pervasive, business.industry, Human Genome, Genetic Diseases, Inborn, medicine.disease, Genetic architecture, Brain Disorders, Genetics, Population, Inborn, Child Development Disorders, Pervasive, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be23562f4666b144736178187de0892e
https://escholarship.org/uc/item/2cr2b10z

المؤلفون: Gotham, Katherine, Bishop, Somer L, Hus, Vanessa, Huerta, Marisela, Lund, Sabata, Buja, Andreas, Krieger, Abba M, Lord, Catherine

المصدر: 33 ; 41 ; 341 ; 1 ; Marketing Papers ; Autism Research ; true ; published ; 6

مصطلحات موضوعية: Autism Spectrum Disorders, anxiety, Insistence on Sameness, Simons Simplex Collection, Child Behavior Checklist 6-18 (CBCL), Autism Diagnostic Interview-Revised (ADI-R), Business, Marketing, Neurosciences, Psychiatry and Psychology, Psychology

وصف الملف: application/pdf

Relation: https://repository.upenn.edu/handle/20.500.14332/39517

الاتاحة: https://repository.upenn.edu/handle/20.500.14332/39517
https://hdl.handle.net/20.500.14332/39517

المؤلفون: Man Li, Hao Hu, Mark Yandell, Chad D. Huff, Hilary Coon

المصدر: Genome Medicine

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Autism Spectrum Disorder, Tetraspanins, Programmed Cell Death 1 Receptor, Gene Expression, Disease, Biology, Myosin Type I, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetics, Humans, Exome, Genetic Predisposition to Disease, Genetics(clinical), Gene, Molecular Biology, Genetics (clinical), Homeodomain Proteins, Likelihood Functions, De novo mutations, Variant prioritization, Simons Simplex Collection, Likelihood ratio test, medicine.disease, Human genetics, Shal Potassium Channels, 030104 developmental biology, Autism spectrum disorder, Likelihood-ratio test, Mutation, Mutation (genetic algorithm), Autism, Molecular Medicine, Software, 030217 neurology & neurosurgery, Genome-Wide Association Study, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121c53140761e1a87d9c76f7ddfd41d9