المؤلفون: Almada, Luciana L., Barroso, Kim, Sen, Sandhya, Toruner, Murat, Sigafoos, Ashley N., Raja Arul, Glancis L., Pease, David R., Vera, Renzo E., Olson, Rachel L.O., Auner, Holger W., Pedeux, Rémy, Iovanna, Juan L., Chevet, Eric, Fernandez-Zapico, Martin E.

المصدر: In BBA - Gene Regulatory Mechanisms June 2023 1866(2)

المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14x4x4wp

المؤلفون: Klee, Eric W.^{Aff1, Aff2, Aff3, IDs41436020010059_cor1}, Cousin, Margot A.^{Aff1, Aff2}, Pinto e Vairo, Filippo^{Aff2, Aff3}, Morales-Rosado, Joel A.^{Aff1, Aff2}, Macke, Erica L.^{Aff1, Aff2}, Jenkinson, W. Garrett^{Aff1, Aff2}, Ferrer, Alejandro^{Aff1, Aff2}, Schultz-Rogers, Laura E.^{Aff1, Aff2}, Olson, Rory J.^{Aff1, Aff2}, Oliver, Gavin R.^{Aff1, Aff2}, Sigafoos, Ashley N.^{Aff2, Aff4}, Schwab, Tanya L.^{Aff2, Aff4}, Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R.^{Aff2, Aff8}, Boczek, Nicole J.^{Aff2, Aff8}, Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L.^{Aff2, Aff3}, Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S.^{Aff10, Aff11}, Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv^{Aff3, Aff8}, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J.^{Aff2, Aff4}, Pichurin, Pavel N.^{Aff2, Aff3}, Deyle, David R.^{Aff2, Aff3}, Morava-Kozicz, Eva^{Aff2, Aff3}, Gavrilova, Ralitza H.^{Aff2, Aff3}, Dhamija, Radhika^{Aff7, Aff9}, Wierenga, Klaas J.^{Aff10, Aff11}, Lanpher, Brendan C.^{Aff2, Aff3}, Babovic-Vuksanovic, Dusica^{Aff2, Aff3}, Farrugia, Gianrico^{Aff2, Aff12}, Schimmenti, Lisa A.^{Aff2, Aff3}, Stewart, A. Keith, Lazaridis, Konstantinos N.^{Aff2, Aff12, IDs41436020010059_cor60}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(3):498-507

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المؤلفون: Singh, Sakshi, Gupta, Aditi^{Aff2, Aff3}, Zech, Michael^{Aff4, Aff5}, Sigafoos, Ashley N.^{Aff2, Aff6}, Clark, Karl J.^{Aff2, Aff6}, Dincer, Yasemin^{Aff7, Aff8}, Wagner, Matias^{Aff4, Aff5}, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker^{Aff7, Aff12}, Winkelmann, Juliane^{Aff4, Aff5, Aff13, Aff14}, Gavrilova, Ralitza H.^{Aff2, Aff15, Aff16}, Klee, Eric W.^{Aff2, Aff3, Aff15}, Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.^Aff1

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(8):1413-1417

المؤلفون: Ferrer, Alejandro^{Aff1, Aff2}, Mangaonkar, Abhishek A., Stroik, Susanna^{Aff4, Aff9}, Zimmermann, Michael T., Sigafoos, Ashley N., Kamath, Patrick S., Simonetto, Douglas A., Wylam, Mark E., Carmona, Eva M., Lazaridis, Konstantinos N.^{Aff1, Aff7}, Peters, Steve, Stewart, Keith^{Aff1, Aff2}, Klee, Eric W.^{Aff1, Aff2}, Hendrickson, Eric A.^Aff4, Patnaik, Mrinal M.^Aff3

المصدر: Blood Cancer Journal. 10(11)

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المؤلفون: Cousin, Margot A.^{Aff1, Aff2}, Smith, Matthew J., Sigafoos, Ashley N.^{Aff1, Aff4}, Jin, Jay J., Murphree, Marine I.^{Aff1, Aff6}, Boczek, Nicole J., Blackburn, Patrick R., Oliver, Gavin R.^{Aff1, Aff2}, Aleff, Ross A.^{Aff4, Aff7}, Clark, Karl J.^{Aff1, Aff4}, Wieben, Eric D.^{Aff1, Aff4, Aff7}, Joshi, Avni Y., Pichurin, Pavel N.^{Aff1, Aff6}, Abraham, Roshini S.^Aff3, Klee, Eric W.^{Aff1, Aff2, Aff3, Aff6}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 38(3):307-319

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المؤلفون: Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

المصدر: In Genetics in Medicine February 2023 25(2)