المؤلفون: Montenegro-Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezdirici, Alper, Pehlivan, Davut, Meng, Qingchang, Rosenfeld, Jill A., Jhangiani, Shalini N., Madan-Khetarpal, Suneeta, Scott, Daryl A., Abarca-Barriga, Hugo, Trubnykova, Milana, Gingras, Marie Claude, Muzny, Donna M., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Gibbs, Richard A.

المصدر: Universidad Peruana de Ciencias Aplicadas (UPC)Repositorio Academico - UPCHuman Mutation.

مصطلحات موضوعية: data lake, genocentric, germline mosaicism, in-frame deletion, KIF1A, literature review

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10757/655505

المؤلفون: Früh, Simon, Boudkkazi, Sami, Koppensteiner, Peter, Sereikaite, Vita, Chen, Li-Yuan, Fernandez-Fernandez, Diego, Rem, Pascal, Ulrich, Daniel, Schwenk, Jochen, Chen, Ziyang, Le Monnier, Elodie, Fritzius, Thorsten, Innocenti, Sabrina, Besseyrias, Valérie, Trovò, Luca, Stawarski, Michal, Argilli, Emanuela, Sherr, Elliott, van Bon, Bregje, Kamsteeg, Erik-Jan, Iascone, Maria, Pilotta, Alba, Cutrì, Maria, Azamian, Mahshid, Hernández-García, Andrés, Lalani, Seema, Rosenfeld, Jill, Zhao, Xiaonan, Vogel, Tiphanie, Ona, Herda, Scott, Daryl, Scheiffele, Peter, Strømgaard, Kristian, Tafti, Mehdi, Gassmann, Martin, Fakler, Bernd, Shigemoto, Ryuichi, Bettler, Bernhard

المصدر: Science Advances. 10(28)

مصطلحات موضوعية: Animals, Female, Humans, Male, Mice, Alleles, Epilepsy, Loss of Function Mutation, Mice, Knockout, Neurodevelopmental Disorders, Neuronal Plasticity, Neurons, Neurotransmitter Agents, Synapses, Synaptic Transmission, Cell Adhesion Molecules

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/82d7f1n3
https://escholarship.org/content/qt82d7f1n3/qt82d7f1n3.pdf

المؤلفون: Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard, Bogenschutz, Eric, Dysart, Matthew, Contreras, Hannah, Frénois, Frederic, Pober, Barbara, Clark, Robin, Giampietro, Philip, Ropers, Hilger, Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David, Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana, Calame, Daniel, Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James, Shen, Yufeng, Chung, Wendy, Scott, Daryl, Bult, Carol, Donahoe, Patricia, High, Frances

المصدر: American Journal of Human Genetics. 110(10)

مصطلحات موضوعية: PLS3, plastin, X-linked, abdominal hernia, actin-binding protein, congenital diaphragmatic hernia, fimbrin, omphalocele, umbilical hernia, Adult, Humans, Male, Animals, Mice, Hernias, Diaphragmatic, Congenital, Actins, Mutation, Missense, Osteoporosis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5cz6x7gg
https://escholarship.org/content/qt5cz6x7gg/qt5cz6x7gg.pdf

المؤلفون: Sy, Mary, Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti-Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille, Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos, Kuwahara, Akela, Zhao, Xiaonan, Luna, Pamela, Shaw, Chad, Rosenfeld, Jill, Scott, Daryl, Bush, Jeffrey

المصدر: American Journal of Medical Genetics Part A. 188(12)

مصطلحات موضوعية: Fanconi anemia, NRXN1, TCF4, esophageal atresia, exome sequencing, tracheoesophageal fistula, Humans, Tracheoesophageal Fistula, Esophageal Atresia, Exome, Exome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4776v05t

المؤلفون: Hardcastle, Amy, Berry, Aliska, Campbell, Ian, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda, Rosenfeld, Jill, Sisoudiya, Saumya, Hernandez-Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria, Capolino, Rossella, Digilio, Maria, Graziani, Ludovico, Rustad, Cecilie, Neas, Katherine, Ferrero, Giovanni, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic, Dean, John, Giuffrida, Maria, Bernardini, Laura, Varghese, Vinod, Shannon, Nora, Harrison, Rachel, Lam, Wayne, McKee, Shane, Turnpenny, Peter, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad, Chung, Wendy, Scott, Daryl, Jones, Marilyn

المصدر: American Journal of Medical Genetics Part A. 188(10)

مصطلحات موضوعية: CREBBP, DECIPHER database, SMARCA4, UBA2, USP9X, congenital diaphragmatic hernia, Animals, DNA Copy Number Variations, Diaphragm, Hernias, Diaphragmatic, Congenital, Mice

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0643544f

المؤلفون: Kimonis, Virginia, Al Dubaisi, Rehab, Maclean, Andrew E, Hall, Kathy, Weiss, Lan, Stover, Alexander E, Schwartz, Philip H, Berg, Bethany, Cheng, Cheng, Parikh, Sumit, Conner, Blair R, Wu, Sitao, Hasso, Anton N, Scott, Daryl A, Koenig, Mary Kay, Karam, Rachid, Tang, Sha, Smith, Moyra, Chao, Elizabeth, Balk, Janneke, Hatchwell, Eli, Eis, Peggy S

المصدر: Journal of medical genetics. 58(5)

مصطلحات موضوعية: Brain, Humans, Mitochondrial Diseases, Mitochondrial Proteins, Magnetic Resonance Imaging, Pedigree, DNA Mutational Analysis, Adolescent, Child, Female, Male, Young Adult, Whole Exome Sequencing, RNA-Seq, clinical genetics, metabolic disorders, molecular genetics, neurology, Rare Diseases, Genetics, Clinical Research, Neurodegenerative, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33q7g6w8

المؤلفون: Accogli, Andrea, Shakya, Saurabh, Yang, Taewoo, Insinna, Christine, Kim, Soo Yeon, Bell, David, Butov, Kirill R, Severino, Mariasavina, Niceta, Marcello, Scala, Marcello, Lee, Hyun Sik, Yoo, Taekyeong, Stauffer, Jimmy, Zhao, Huijie, Fiorillo, Chiara, Pedemonte, Marina, Diana, Maria C, Baldassari, Simona, Zakharova, Viktoria, Shcherbina, Anna, Rodina, Yulia, Fagerberg, Christina, Roos, Laura Sønderberg, Wierzba, Jolanta, Dobosz, Artur, Gerard, Amanda, Potocki, Lorraine, Rosenfeld, Jill A, Lalani, Seema R, Scott, Tiana M, Scott, Daryl, Azamian, Mahshid S, Louie, Raymond, Moore, Hannah W, Champaigne, Neena L, Hollingsworth, Grace, Torella, Annalaura, Nigro, Vincenzo, Ploski, Rafal, Salpietro, Vincenzo, Zara, Federico, Pizzi, Simone, Chillemi, Giovanni, Ognibene, Marzia, Cooney, Erin, Do, Jenny, Linnemann, Anders, Larsen, Martin J, Specht, Suzanne, Walters, Kylie J, Choi, Hee-Jung, Choi, Murim, Tartaglia, Marco, Youkharibache, Phillippe, Chae, Jong-Hee, Capra, Valeria, Park, Sung-Gyoo, Westlake, Christopher J

المصدر: Accogli , A , Shakya , S , Yang , T , Insinna , C , Kim , S Y , Bell , D , Butov , K R , Severino , M , Niceta , M , Scala , M , Lee , H S , Yoo , T , Stauffer , J , Zhao , H , Fiorillo , C , Pedemonte , M , Diana , M C , Baldassari , S , Zakharova , V , Shcherbina , A , Rodina , Y , Fagerberg , C , Roos , L S , Wierzba , ....

مصطلحات موضوعية: Humans, Male, Animals, WD40 Repeats, Zebrafish/genetics, Cognition, Brain, Ciliopathies/genetics

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/50fc8ec8-531a-41d8-afff-9a39563c660c
https://doi.org/10.1038/s41467-023-44611-2
https://findresearcher.sdu.dk/ws/files/253737829/s41467-023-44611-2.pdf

المؤلفون: Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert, Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason

المساهمون: National Human Genome Research Institute, Thrasher Research Fund, Marguerite-Marie Delacroix Foundation, Ontario Genomics Institute, Ghent University, FWO

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 509-528 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.01.013
https://api.elsevier.com/content/article/PII:S0002929724000326?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000326?httpAccept=text/plain

المؤلفون: Rossi, Vittoria, Brooks, Dan, Dai, Hongzheng, Mizerik, Elizabeth, Ben-Moshe, Yishay, Lalani, Seema, Scott, Daryl, Scaglia, Fernando, Machol, Keren, Bekheirnia, Mir Reza

المصدر: Genetics in Medicine Open ; volume 2, page 100927 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.100927
https://api.elsevier.com/content/article/PII:S2949774424000736?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424000736?httpAccept=text/plain

المؤلفون: Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A, Lalani, Seema R, Rosenfeld, Jill A, Azamian, Mahshid S, Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Center, UCLA Clinical Genomics, Nelson, Stanley F, Grody, Wayne W, Deignan, Joshua L, Kang, Sung-Hae, Arboleda, Valerie A, Senaratne, T Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S, Kianmahd, Jessica, Hinkamp, Franceska L, Neustadt, Ahna M, Fogel, Brent L, Quintero-Rivera, Fabiola, Noh, Grace J, Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E, Gavrilova, Ralitza, Mirzaa, Ghayda M, Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A, Ekici, Arif B, Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

المصدر: American Journal of Human Genetics. 107(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Human Genome, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Animals, Child, Drosophila melanogaster, Female, Gene Knockdown Techniques, Genetic Variation, Heterozygote, Humans, Intellectual Disability, Locomotion, Male, Mutation, Neurodevelopmental Disorders, RNA Polymerase II, RNA Processing, Post-Transcriptional, RNA, Messenger, Seizures, Serine-Arginine Splicing Factors, Exome Sequencing, UCLA Clinical Genomics Center, SCAF4, epilepsy, intellectual disability, mRNA processing, neurodevelopmental disorder, seizures, 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/6pn9k34c

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: Undiagnosed Diseases Network, Huang, Huiyan, Pan, Jiehong, Spielberg, David R., Hanchard, Neil A., Scott, Daryl A., Burrage, Lindsay C., Dai, Hongzheng, Murdock, David, Rosenfeld, Jill A., Mohammad, Ariz, Huang, Tao, Lindsey, Anika G., Kim, Hyori, Chen, Jian, Ramu, Avinash, Morrison, Stephanie A., Dawson, Zachary D., Hu, Alex Z., Tycksen, Eric, Silverman, Gary A., Baldridge, Dustin, Wambach, Jennifer A., Pak, Stephen C., Brody, Steven L., Schedl, Tim

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2022 Feb 01. 119(6), 1-10.

URL الوصول: https://www.jstor.org/stable/27118528

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(4)

مصطلحات موضوعية: Humans, Neurofibroma, Plexiform, Neurofibromatosis 1, Genetic Predisposition to Disease, Neurofibromin 1, Sequence Deletion, Heterozygote, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Learning Disabilities, NF1, genotype–phenotype correlation, learning difficulties, neurofibroma, p.Met992del, genotype-phenotype correlation, Neurofibroma, Plexiform, Mutation, Missense, Preschool, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/06r3s5kf
https://escholarship.org/content/qt06r3s5kf/qt06r3s5kf.pdf

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: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha, Aylsworth, Arthur, Azizi, Amedeo, Basel, Donald, Bellus, Gary, Bird, Lynne, Blazo, Maria, Burke, Leah, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria, Dills, Shelley, Dosa, Laura, Greenwood, Robert, Griffis, Cristin, Gupta, Punita, Hachen, Rachel, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi, Jordan, Justin, Kannu, Peter, Korf, Bruce, Lewis, Andrea, Listernick, Robert, Lonardo, Fortunato, Mahoney, Maurice, Ojeda, Mayra, McDonald, Marie, McDougall, Carey, Mendelsohn, Nancy, Miller, David, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary, Piscopo, Carmelo, Pond, Dinel, Randolph, Linda, Rauen, Katherine, Rednam, Surya, Rutledge, S, Saletti, Veronica, Schaefer, G, Schorry, Elizabeth, Scott, Daryl, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois, Syed, Ashraf, Trapane, Pamela, Ullrich, Nicole, Wakefield, Emily, Walsh, Laurence, Wangler, Michael, Zackai, Elaine, Claes, Kathleen, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

المصدر: Genetics in Medicine. 21(3)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8m17h094

المؤلفون: Kao, Eric C., Mizerik, Elizabeth A., Bacino, Carlos A., Dai, Hongzheng, Vossaert, Liesbeth, Scott, Daryl A.

المصدر: American Journal of Medical Genetics. Part A; Jan2025, Vol. 197 Issue 1, p1-6, 6p

المؤلفون: Waskow, Emily R., Emrick, Lisa T., Rosenfeld, Jill A., Ketkar, Shamika, Burrage, Lindsay C., Scott, Daryl A.

المصدر: American Journal of Medical Genetics. Part A; Jan2025, Vol. 197 Issue 1, p1-7, 7p

المؤلفون: Jordan, Valerie K, Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J, Balci, Tugce B, Carter, Melissa T, Bernat, John A, Moccia, Amanda N, Srivastava, Anshika, Martin, Donna M, Bielas, Stephanie L, Pappas, John, Svoboda, Melissa D, Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M, Scaglia, Fernando, Network, Undiagnosed Diseases, Kohler, Jennefer N, Bernstein, Jonathan A, Dries, Annika M, Rosenfeld, Jill A, DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H, Bi, Weimin, Scott, Daryl A

المصدر: Human Mutation. 39(5)

مصطلحات موضوعية: Congenital Structural Anomalies, Genetics, Genetic Testing, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Carrier Proteins, Child, Preschool, Fatal Outcome, Female, Genetic Association Studies, Humans, Infant, Male, Mutation, Young Adult, 1p36 deletion syndrome, CHARGE syndrome, CHD7, genotype-phenotype correlations, NEDBEH, RERE, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/57z6f57h

المؤلفون: Huth, Emily A., Zhao, Xiaonan, Owen, Nichole, Luna, Pamela N., Vogel, Ida, Dorf, Inger L.H., Joss, Shelagh, Clayton-Smith, Jill, Parker, Michael J., Louw, Jacoba J., Gewillig, Marc, Breckpot, Jeroen, Kraus, Alison, Sasaki, Erina, Kini, Usha, Burgess, Trent, Tan, Tiong Y., Armstrong, Ruth, Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Kerstjens-Frederikse, Wihelmina S., Rankin, Julia, Helvaty, Lindsey R., Landis, Benjamin J., Geddes, Gabrielle C., McBride, Kim L., Ware, Stephanie M., Shaw, Chad A., Lalani, Seema R., Rosenfeld, Jill A., Scott, Daryl A.

المصدر: Huth , E A , Zhao , X , Owen , N , Luna , P N , Vogel , I , Dorf , I L H , Joss , S , Clayton-Smith , J , Parker , M J , Louw , J J , Gewillig , M , Breckpot , J , Kraus , A , Sasaki , E , Kini , U , Burgess , T , Tan , T Y , Armstrong , R , Neas , K , Ferrero , G B , Brusco , A , Kerstjens-Frederikse , W S , Rankin , ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/5ca2a9ac-cdf5-46ad-9038-253dc28fe0a1
https://research.rug.nl/en/publications/5ca2a9ac-cdf5-46ad-9038-253dc28fe0a1
https://doi.org/10.1038/s41431-023-01451-4
https://pure.rug.nl/ws/files/871407933/s41431-023-01451-4.pdf
http://www.scopus.com/inward/record.url?scp=85170238511&partnerID=8YFLogxK

المؤلفون: Mohajeri, Arezoo, Vaseghi-Shanjani, Maryam, Rosenfeld, Jill A, Yang, Gui Xiang, Lu, Henry, Sharma, Mehul, Lin, Susan, Salman, Areesha, Waqas, Meriam, Sababi Azamian, Mahshid, Worley, Kim C, Del Bel, Kate L, Kozak, Frederick K, Rahmanian, Ronak, Biggs, Catherine M, Hildebrand, Kyla J, Lalani, Seema R, Nicholas, Sarah K, Scott, Daryl A, Mostafavi, Sara, van Karnebeek, Clara, Henkelman, Erika, Halparin, Jessica, Yang, Connie L, Armstrong, Linlea, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey, Stuart E, Lehman, Anna, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvarez, Raquel L, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, TaChen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Corona, Rosario, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Falk, Marni, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Gahl, William A, Glass, Ian, Gochuico, Bernadette, Goddard, Page C, Godfrey, Rena A, Golden-Grant, Katie, Grajewski, Alana, Don Hadley, Sihoun Hahn, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P, Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N, Kohane, Isaac S, Kohler, Jennefer N, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M, Kravets, Elijah, Lam, Byron, Lam, Christina, Lanpher, Brendan C, Lanza, Ian R, LeBlanc, Kimberly, Lee, Brendan H, Levitt, Roy, Lewis, Richard A, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Mahoney, Rachel, Malicdan, MayChristine V, Mamounas, Laura A, Manolio, Teri A, Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A, Martin, Martin G, Martínez-Agosto, Julian A, Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T, McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F, Newman, John H, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pace, Laura, Pak, Stephen, Carl Pallais, J, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, PhillipsIII, John A, Posey, Jennifer E, Potocki, Lorraine, PuseySwerdzewski, Barbara N, Quinlan, Aaron, Rao, Deepak A, Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Ron Scott, C, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K, Sinsheimer, Janet S, Sisco, Kathy, Smith, Edward C, Smith, Kevin S, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C, Stoler, Joan M, Sullivan, Kathleen, Sullivan, Jennifer A, Sun, Angela, Sutton, Shirley, Sweetser, David A, Sybert, Virginia, Tabor, Holly K, Tan, Queenie K-G, Tan, Amelia LM, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Ungar, Rachel A, Urv, Tiina K, Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P, Wahl, Colleen E, Walker, Melissa, Wallace, Stephanie, Walley, Nicole M, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T, Whitlock, Jordan, Wolfe, Lynne A, Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan

مصطلحات موضوعية: Developmental defects

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/11/1092; http://dx.doi.org/10.1136/jmg-2022-109127

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/11/1092
https://doi.org/10.1136/jmg-2022-109127