المؤلفون: Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, Denommé-Pichon, Anne-Sophie

المصدر: American journal of human genetics. 104(3)

مصطلحات موضوعية: CAUSES Study, Deciphering Developmental Disorders study, Humans, Syndrome, Adaptor Proteins, Signal Transducing, Nuclear Proteins, Prognosis, Autistic Disorder, Amino Acid Sequence, Sequence Homology, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Intellectual Disability, TRRAP, autism spectrum disorder, congenital malformations, de novo variants, histone acetylation, intellectual disability, neurodevelopmental disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Neurosciences, Mental Health, Autism, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4cf0w8wv

المؤلفون: Farmer, Cristan A., Kaat, Aaron J., Thurm, Audrey, Anselm, Irina, Akshoomoff, Natacha, Bennett, Amanda, Berry, Leandra, Bruchey, Aleksandra, Barshop, Bruce A., Berry-Kravis, Elizabeth, Bianconi, Simona, Cecil, Kim M., Davis, Robert J., Ficicioglu, Can, Porter, Forbes D., Wainer, Allison, Goin-Kochel, Robin P., Leonczyk, Caroline, Guthrie, Whitney, Koeberl, Dwight, Love-Nichols, Jamie, Mamak, Eva, Mercimek-Andrews, Saadet, Thomas, Rebecca P., Spiridigliozzi, Gail A., Sullivan, Nancy, Sutton, Vernon R., Udhnani, Manisha D., Waisbren, Susan E., Miller, Judith S.

المصدر: American Journal on Intellectual and Developmental Disabilities. Nov 2020 125(6):475-480.

Peer Reviewed: Y

Page Count: 6

Descriptors: Developmental Disabilities, Norm Referenced Tests, Scores, Ability, Autism, Pervasive Developmental Disorders, Standardized Tests, Item Response Theory

المؤلفون: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

المصدر: American Journal of Human Genetics. 101(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, 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/9gc6k2mk

المؤلفون: Alkotob, Shifaa, Hertel, Paula Marie, Galvan, Nhu Thao Nguyen, Sutton, Vernon R, Nicholas, Sarah

المصدر: In Clinical Immunology May 2024 262 Supplement

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المؤلفون: Gijavanekar, Charul, Glinton, Kevin E., Martin, Kirt A., Wilson, Theresa A., Sutton, Vernon R., Elsea, Sarah H.

المصدر: In Molecular Genetics and Metabolism March 2023 138(3)

المؤلفون: Yang, Song-Yu, He, Xue-Ying, Olpin, Simon E., Sutton, Vernon R., McMenamin, Joe, Philipp, Manfred, Denman, Robert B., Malik, Mazhar, Wakil, Salih J.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2009 Sep 01. 106(35), 14820-14824.

URL الوصول: https://www.jstor.org/stable/40484513

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