المؤلفون: Collins, Ryan L, Brand, Harrison, Karczewski, Konrad J, Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C, Khera, Amit V, Lowther, Chelsea, Gauthier, Laura D, Wang, Harold, Watts, Nicholas A, Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W, Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R, Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M, Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D, Lin, Henry J, Rich, Stephen S, Post, Wendy S, Chen, Yii-Der Ida, Rotter, Jerome I, Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M, Kathiresan, Sekar, Daly, Mark J, Banks, Eric, MacArthur, Daniel G, Talkowski, Michael E

المصدر: Nature. 581(7809)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, Generic health relevance, Disease, Female, Genetic Testing, Genetic Variation, Genetics, Medical, Genetics, Population, Genome, Human, Genotyping Techniques, Humans, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Racial Groups, Reference Standards, Selection, Genetic, Whole Genome Sequencing, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/25h6t9dpTest

المؤلفون: Werling, Donna M, Brand, Harrison, An, Joon-Yong, Stone, Matthew R, Zhu, Lingxue, Glessner, Joseph T, Collins, Ryan L, Dong, Shan, Layer, Ryan M, Markenscoff-Papadimitriou, Eirene, Farrell, Andrew, Schwartz, Grace B, Wang, Harold Z, Currall, Benjamin B, Zhao, Xuefang, Dea, Jeanselle, Duhn, Clif, Erdman, Carolyn A, Gilson, Michael C, Yadav, Rachita, Handsaker, Robert E, Kashin, Seva, Klei, Lambertus, Mandell, Jeffrey D, Nowakowski, Tomasz J, Liu, Yuwen, Pochareddy, Sirisha, Smith, Louw, Walker, Michael F, Waterman, Matthew J, He, Xin, Kriegstein, Arnold R, Rubenstein, John L, Sestan, Nenad, McCarroll, Steven A, Neale, Benjamin M, Coon, Hilary, Willsey, A Jeremy, Buxbaum, Joseph D, Daly, Mark J, State, Matthew W, Quinlan, Aaron R, Marth, Gabor T, Roeder, Kathryn, Devlin, Bernie, Talkowski, Michael E, Sanders, Stephan J

المصدر: Nature Genetics. 50(5)

مصطلحات موضوعية: Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Autism, Biotechnology, Mental Health, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Autism Spectrum Disorder, Female, Genetic Predisposition to Disease, Genome, Genome-Wide Association Study, Humans, INDEL Mutation, Male, Polymorphism, Single Nucleotide, Protein Isoforms, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/29v6r8tvTest

المؤلفون: Stone, Matthew R.

المصدر: Theses and Dissertations

مصطلحات موضوعية: GraphViz, Visualizations, Command and control, Graphics and Human Computer Interfaces

وصف الملف: application/pdf

العلاقة: https://scholar.afit.edu/etd/5546Test; https://scholar.afit.edu/context/etd/article/6548/viewcontent/AD1181199.pdfTest

الإتاحة: https://scholar.afit.edu/etd/5546Test
https://scholar.afit.edu/context/etd/article/6548/viewcontent/AD1181199.pdfTest

المؤلفون: Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.

المصدر: Nature ; volume 590, issue 7846, page E55-E55 ; ISSN 0028-0836 1476-4687

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41586-020-03176-6Test
http://www.nature.com/articles/s41586-020-03176-6.pdfTest
http://www.nature.com/articles/s41586-020-03176-6Test

المؤلفون: Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent, Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Cummings, Beryl, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana

المساهمون: Tampere University, Clinical Medicine, Department of Clinical Chemistry

مصطلحات موضوعية: 3111 Biomedicine

وصف الملف: fulltext

العلاقة: 7809; 581; ORCID: /0000-0002-2555-4427/work/127420516; https://trepo.tuni.fi/handle/10024/128027Test; URN:NBN:fi:tuni-202101111172

الإتاحة: https://doi.org/10.1038/s41586-020-2287-8Test
https://trepo.tuni.fi/handle/10024/128027Test

المؤلفون: Han, Lide, Zhao, Xuefang, Benton, Mary Lauren, Perumal, Thaneer, Collins, Ryan L., Hoffman, Gabriel E., Johnson, Jessica S., Sloofman, Laura, Wang, Harold Z., Stone, Matthew R., Brennand, Kristen J., Brand, Harrison, Sieberts, Solveig K., Marenco, Stefano, Peters, Mette A., Lipska, Barbara K., Roussos, Panos, Capra, John A., Talkowski, Michael, Ruderfer, Douglas M.

المصدر: Han , L , Zhao , X , Benton , M L , Perumal , T , Collins , R L , Hoffman , G E , Johnson , J S , Sloofman , L , Wang , H Z , Stone , M R , CommonMind Consortium , Brennand , K J , Brand , H , Sieberts , S K , Marenco , S , Peters , M A , Lipska , B K , Roussos , P , Capra , J A , Talkowski , M & Ruderfer , D M 2020 , ' Functional annotation ....

العلاقة: https://pure.au.dk/portal/da/publications/functional-annotation-of-rare-structural-variation-in-the-human-brainTest(06c8bcf2-5b0a-4d47-98d2-5678f2aba66d).html

الإتاحة: https://doi.org/10.1038/s41467-020-16736-1Test
https://pure.au.dk/portal/da/publications/functional-annotation-of-rare-structural-variation-in-the-human-brainTest(06c8bcf2-5b0a-4d47-98d2-5678f2aba66d).html
http://www.scopus.com/inward/record.url?scp=85086602545&partnerID=8YFLogxKTest

المؤلفون: Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Dorrani, Naghmeh, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E., PREGNO, GIULIA, MANDRILE, Giorgia, GIACHINO, Daniela Francesca

المساهمون: Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.

مصطلحات موضوعية: Autism, Chromoanagenesi, Chromothripsi, Complex chromosomal rearrangement, Copynumber variation, Germline mutation, Inversion, Neurodevelopmental disorder, Structural variation, Whole-genome sequencing, Ecology, Evolution, Behavior and Systematic, Genetic, Cell Biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28260531; info:eu-repo/semantics/altIdentifier/wos/WOS:000397112000001; volume:18; issue:1; firstpage:1; lastpage:21; numberofpages:21; journal:GENOME BIOLOGY; http://hdl.handle.net/2318/1631327Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85014470424; http://genomebiology.comTest/; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338099/pdf/13059_2017_Article_1158.pdfTest; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-017-1158-6Test

الإتاحة: https://doi.org/10.1186/s13059-017-1158-6Test
http://hdl.handle.net/2318/1631327Test
http://genomebiology.comTest/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338099/pdf/13059_2017_Article_1158.pdfTest

المؤلفون: Collins, Ryan L, Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R, Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon Yong, Currall, Benjamin B, Seabra, Catarina M, Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Jan-Stephan, Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.

المساهمون: UMC Utrecht, CMM Groep Kloosterman, Child Health, Cancer

مصطلحات موضوعية: Autism, Chromoanagenesis, Chromothripsis, Complex chromosomal rearrangement, Copynumber variation, Germline mutation, Inversion, Neurodevelopmental disorders, Structural variation, Whole-genome sequencing, Ecology, Evolution, Behavior and Systematics, Genetics, Cell Biology, Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/354479Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/354479Test

المؤلفون: Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M. H. F., Brilstra, Eva H., Brown, Chester W., Bruggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B. A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Mendoza, Cinthya J. Zepeda, Menten, Bjorn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Pina Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L. P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M. L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

المصدر: Redin , C , Brand , H , Collins , R L , Kammin , T , Mitchell , E , Hodge , J C , Hanscom , C , Pillalamarri , V , Seabra , C M , Abbott , M-A , Abdul-Rahman , O A , Aberg , E , Adley , R , Alcaraz-Estrada , S L , Alkuraya , F S , An , Y , Anderson , M-A , Antolik , C , Anyane-Yeboa , K , Atkin , J F , Bartell , T , Bernstein , J A , Beyer , E ....

مصطلحات موضوعية: AUTISM SPECTRUM DISORDER, DE-NOVO MUTATIONS, SEVERE MENTAL-RETARDATION, OF-FUNCTION MUTATIONS, MICRODELETION SYNDROME, CHROMOSOME REARRANGEMENTS, INTELLECTUAL DISABILITY, STRUCTURAL VARIATION, DEVELOPMENTAL DELAY, CANCER GENOMES

العلاقة: https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9Test

الإتاحة: https://doi.org/10.1038/ng.3720Test
https://hdl.handle.net/11370/2cc769f3-7d83-4416-86f5-f75f2161ded9Test
https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9Test
http://europepmc.org/articles/pmc5307971?pdf=renderTest

المؤلفون: Durst, Ronen, Sauls, Kimberly, Peal, David S., Devlaming, Annemarieke, Toomer, Katelynn, Leyne, Maire, Salani, Monica, Talkowski, Michael E., Brand, Harrison, Perrocheau, Maëlle, Simpson, Charles, Jett, Christopher, Stone, Matthew R., Charles, Florie, Chiang, Colby, Lynch, Stacey N., Bouatia-Naji, Nabila, Delling, Francesca N., Freed, Lisa A., Tribouilloy, Christophe, Le Tourneau, Thierry, Le Marec, Hervé, Fernandez-Friera, Leticia, Solis, Jorge, Trujillano, Daniel, Ossowski, Stephan, Estivill, Xavier, Bruneval, Patrick, Chester, Adrian, Schott, Jean-Jacques, Irvine, Kenneth D., Mao, Yaopan, Wessels, Andy, Motiwala, Tahirali, Puceat, Michel, Tsukasaki, Yoshikazu, Menick, Donald R., Kasiganesan, Harinath, Nie, Xingju, Broome, Anne-Marie, Williams, Katherine, Johnson, Amanda, Markwald, Roger R., Jeunemaitre, Xavier, Hagège, Albert, A., Levine, Robert A., Milan, David J., Norris, Russell A., Slaugenhaupt, Susan A.

المساهمون: Center for humana genetic research, Harvard Medical School Boston (HMS), Dipartimento di Biologia Cellulare e dello Sviluppo, Università degli Studi di Roma "La Sapienza" = Sapienza University Rome (UNIROMA), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Mécanismes physiologiques et conséquences des calcifications cardiovasculaires: rôle des remodelages cardiovasculaires et osseux, Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM), ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Laser Processing Group, Center for Genomic Regulation (CRG-UPF), Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública = Consortium for Biomedical Research of Epidemiology and Public Health (CIBERESP), Laboratoire de Recherche en Imagerie : Méthodes d'imagerie des Échanges transcapillaires (LRI - EA4062), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Service de cardiologie CHU HEGP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)

المصدر: ISSN: 0028-0836.

مصطلحات موضوعية: Chromosomes, Cell Movement, Mitral Valve Prolapse, Pair 11, Human, Female, Male, Mutation, Animals, Mice, Cadherins, Mitral Valve, Pedigree, RNA, Messenger, Protein Stability, Phenotype, Humans, Body Patterning, Zebrafish, Zebrafish Proteins, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26258302; hal-01830584; https://hal.science/hal-01830584Test; https://hal.science/hal-01830584/documentTest; https://hal.science/hal-01830584/file/nihms701561.pdfTest; PUBMED: 26258302; PUBMEDCENTRAL: PMC4720389

الإتاحة: https://doi.org/10.1038/nature14670Test
https://hal.science/hal-01830584Test
https://hal.science/hal-01830584/documentTest
https://hal.science/hal-01830584/file/nihms701561.pdfTest