المؤلفون: Trost, Brett, Thiruvahindrapuram, Bhooma, Chan, Ada, Engchuan, Worrawat, Higginbotham, Edward, Howe, Jennifer, Loureiro, Livia, Reuter, Miriam, Roshandel, Delnaz, Whitney, Joe, Zarrei, Mehdi, Bookman, Matthew, Somerville, Cherith, Shaath, Rulan, Abdi, Mona, Aliyev, Elbay, Patel, Rohan, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Hamdan, Omar, Kaur, Gaganjot, Wang, Zhuozhi, MacDonald, Jeffrey, Wei, John, Sung, Wilson, Lamoureux, Sylvia, Hoang, Ny, Selvanayagam, Thanuja, Deflaux, Nicole, Geng, Melissa, Ghaffari, Siavash, Bates, John, Young, Edwin, Ding, Qiliang, Shum, Carole, DAbate, Lia, Bradley, Clarrisa, Rutherford, Annabel, Aguda, Vernie, Apresto, Beverly, Chen, Nan, Desai, Sachin, Du, Xiaoyan, Fong, Matthew, Pullenayegum, Sanjeev, Samler, Kozue, Wang, Ting, Ho, Karen, Paton, Tara, Pereira, Sergio, Herbrick, Jo-Anne, Wintle, Richard, Fuerth, Jonathan, Noppornpitak, Juti, Ward, Heather, Magee, Patrick, Al Baz, Ayman, Kajendirarajah, Usanthan, Kapadia, Sharvari, Vlasblom, Jim, Valluri, Monica, Green, Joseph, Seifer, Vicki, Quirbach, Morgan, Rennie, Olivia, Kelley, Elizabeth, Masjedi, Nina, Lord, Catherine, Szego, Michael, Zawati, Man, Lang, Michael, Strug, Lisa, Marshall, Christian, Costain, Gregory, Calli, Kristina, Iaboni, Alana, Yusuf, Afiqah, Ambrozewicz, Patricia, Gallagher, Louise, Amaral, David, Brian, Jessica, Elsabbagh, Mayada, Georgiades, Stelios, Messinger, Daniel, Ozonoff, Sally, Sebat, Jonathan, Sjaarda, Calvin, Smith, Isabel, Szatmari, Peter, Zwaigenbaum, Lonnie, Kushki, Azadeh, Frazier, Thomas, Vorstman, Jacob, Fakhro, Khalid, Fernandez, Bridget, Lewis, M, Weksberg, Rosanna, Fiume, Marc, Yuen, Ryan, Anagnostou, Evdokia

المصدر: Cell. 185(23)

مصطلحات موضوعية: autism spectrum disorder, copy-number variation, neurodevelopmental disorders, phenotype measures, polygenic risk scores, rare variants, structural variation, whole-genome sequencing, Humans, Autism Spectrum Disorder, Autistic Disorder, Genetic Predisposition to Disease, DNA Copy Number Variations, Genomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2p58s24pTest
https://escholarship.org/content/qt2p58s24p/qt2p58s24p.pdfTest

المؤلفون: Fernandez Bridget A, Green Jane S, Bursey Ford, Barrett Brendan, MacMillan Andrée, McColl Sarah, Fernandez Sara, Rahman Proton, Mahoney Krista, Pereira Sergio L, Scherer Stephen W, Boycott Kym M, Woods Michael O

المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 111 (2012)

مصطلحات موضوعية: Albinism, Exome sequencing, G6PC3 protein, Inflammatory bowel disease, Oculocutaneous albinism type 4 (OCA4), Neutropenia, Severe congenital neutropenia type 4 (SCN4), SLC45A2 protein, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-2350/13/111Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/0b204c94af4c404988610ac3b83d6484Test

المؤلفون: Fernandez Bridget A, Fox George, Bhatia Rick, Sala Eric, Noble Barbara, Denic Nash, Fernandez Dzintra, Duguid Nigel, Dohey Amanda, Kamel Fady, Edwards Laura, Mahoney Krista, Stuckless Susan, Parfrey Patrick S, Woods Michael O

المصدر: Respiratory Research, Vol 13, Iss 1, p 64 (2012)

مصطلحات موضوعية: TERT, Familial pulmonary fibrosis, Interstitial pneumonia, Telomere, Surfactant, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

العلاقة: http://respiratory-research.com/content/13/1/64Test; https://doaj.org/toc/1465-9921Test

الوصول الحر: https://doaj.org/article/a36962c1d8284d50a12e782787faf880Test

المؤلفون: Allison, Kimberly H., Allyse, Megan A., B. Smolkin, Matthew, Bartel, Michael J., Beam, Elena, Beechem, Joseph M., Behdad, Amir, Bennett, Katie M., Best, D. Hunter, Betz, Bryan L., Booker, Jessica K., Bourlet, Thomas, Brown, Noah A., Cappelle, Saraswathi, Caprioli, Richard M., Castellano, Juliana, Church, Sarah E., Clarke, Eamonn, Coleman, William B., Crooks, Kristy R., D. Shmookler, Aaron, Dong, Jianli, Fernandes, Helen, Fernandez, Bridget A., Fitts, Eric, Fulmer, Makenzie L., Furtado, Larissa V., Gale, Bruce K., Gallinella, Giorgio, Gonzalo, Sylvie, Grattard, Florence, Gutierrez, Danielle B., Hamilton, Robert, Hasadsri, Linda, Hsiao, Susan J., Ismail, Nahed, Kerr, S.E., Khan, Wahab A., Lambert, Christopher, Laurentius, Lars B., Lee, Grace, Levy, Joshua, Linos, Konstantinos, Mahmood, Tawsif, Malick, M. Shaheen, Mariani, Raffaella, Marie McLaughlin, Heather, Marshall, Christian R., Memmi, Meriam, Michalak, Tomasz I.

المصدر: Diagnostic Molecular Pathology ; page xiii-xvi ; ISBN 9780128228241

الإتاحة: https://doi.org/10.1016/b978-0-12-822824-1.00052-3Test
https://api.elsevier.com/content/article/PII:B9780128228241000523?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128228241000523?httpAccept=text/plainTest

المؤلفون: Fernandez, Bridget A., Marshall, Christian R., Vorstman, Jacob A.S., Scherer, Stephen W.

المصدر: Diagnostic Molecular Pathology ; page 291-301 ; ISBN 9780128228241

الإتاحة: https://doi.org/10.1016/b978-0-12-822824-1.00016-xTest
https://api.elsevier.com/content/article/PII:B978012822824100016X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B978012822824100016X?httpAccept=text/plainTest

المؤلفون: Chan, Ada J. S., Engchuan, Worrawat, Reuter, Miriam S., Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Trost, Brett, Nalpathamkalam, Thomas, Negrijn, Carol, Lamoureux, Sylvia, Pellecchia, Giovanna, Patel, Rohan V., Sung, Wilson W. L., MacDonald, Jeffrey R., Howe, Jennifer L., Vorstman, Jacob, Sondheimer, Neal, Takahashi, Nicole, Miles, Judith H., Anagnostou, Evdokia, Tammimies, Kristiina, Zarrei, Mehdi, Merico, Daniele, Stavropoulos, Dimitri J., Yuen, Ryan K. C., Fernandez, Bridget A., Scherer, Stephen W.

المساهمون: Autism Speaks, Canada Foundation for Innovation, Gouvernement du Canada | Canadian Institutes of Health Research, Genome Canada, Fondation Brain Canada, Ontario Brain Institute, Hospital for Sick Children

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-022-34112-zTest
https://www.nature.com/articles/s41467-022-34112-z.pdfTest
https://www.nature.com/articles/s41467-022-34112-zTest

المؤلفون: Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, Scherer, Stephen W

المصدر: Human Molecular Genetics. 23(10)

مصطلحات موضوعية: Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/59x2g1gfTest

المؤلفون: Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Wang, Zhuozhi, Vorstman, Jacob AS, Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T, Oliveira, Bárbara, Marshall, Christian R, Magalhaes, Tiago R, Lowe, Jennifer K, Howe, Jennifer L, Griswold, Anthony J, Gilbert, John, Duketis, Eftichia, Dombroski, Beth A, De Jonge, Maretha V, Cuccaro, Michael, Crawford, Emily L, Correia, Catarina T, Conroy, Judith, Conceição, Inês C, Chiocchetti, Andreas G, Casey, Jillian P, Cai, Guiqing, Cabrol, Christelle, Bolshakova, Nadia, Bacchelli, Elena, Anney, Richard, Gallinger, Steven, Cotterchio, Michelle, Casey, Graham, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, Wallace, Simon, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Soorya, Latha, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L Alison, McGrew, Susan G, Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S, Kolevzon, Alexander, González, Patricia Jiménez, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Fernandez, Bridget A, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F, Bölte, Sven, Bernier, Raphael, Baird, Gillian, Bailey, Anthony J, Anagnostou, Evdokia, Almeida, Joana, Wijsman, Ellen M, Vieland, Veronica J, Vicente, Astrid M, Schellenberg, Gerard D, Pericak-Vance, Margaret, Paterson, Andrew D, Parr, Jeremy R, Oliveira, Guiomar, Nurnberger, John I, Monaco, Anthony P, Maestrini, Elena, Klauck, Sabine M, Hakonarson, Hakon, Haines, Jonathan L, Geschwind, Daniel H, Freitag, Christine M, Folstein, Susan E, Ennis, Sean

المصدر: American Journal of Human Genetics. 94(5)

مصطلحات موضوعية: Genetics, Brain Disorders, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), Neurosciences, Autism, 2.1 Biological and endogenous factors, Aetiology, Child, Child Development Disorders, Pervasive, DNA Copy Number Variations, Female, Gene Regulatory Networks, Humans, Male, Metabolic Networks and Pathways, Multigene Family, Pedigree, Sequence Deletion, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2pf286f3Test

المؤلفون: Aldinger, Kimberly A, Kogan, Jillene, Kimonis, Virginia, Fernandez, Bridget, Horn, Denise, Klopocki, Eva, Chung, Brian, Toutain, Annick, Weksberg, Rosanna, Millen, Kathleen J, Barkovich, A James, Dobyns, William B

المصدر: American Journal of Medical Genetics Part A. 161(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Clinical Research, Rare Diseases, Pediatric, Neurosciences, Brain Disorders, Congenital Structural Anomalies, Pediatric Research Initiative, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adaptor Proteins, Signal Transducing, Adolescent, Autistic Disorder, Cerebellum, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 22, Developmental Disabilities, Genetic Association Studies, Genetic Loci, Genotype, Humans, Image Processing, Computer-Assisted, In Situ Hybridization, Fluorescence, Infant, Mutation, Nerve Tissue Proteins, Oligonucleotide Array Sequence Analysis, Phenotype, Polymorphism, Single Nucleotide, cerebellum, chromosome, deletion, SHANK3, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/67c4t4scTest

المؤلفون: Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J

المصدر: Human Molecular Genetics. 21(21)

مصطلحات موضوعية: Behavioral and Social Science, Clinical Research, Human Genome, Mental Health, Genetics, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), Autism, Prevention, Aetiology, 2.1 Biological and endogenous factors, Alleles, Child, Child Development Disorders, Pervasive, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Language Development, Male, Membrane Proteins, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Risk Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7452m9z1Test