المؤلفون: Deignan, Joshua L., Aggarwal, Vimla, Bale, Allen E., Bellissimo, Daniel B., Booker, Jessica K., Cao, Yang, Crooks, Kristy R., Deak, Kristen L., Del Gaudio, Daniela, Funke, Birgit, Hoppman, Nicole L., Horner, Vanessa, Hufnagel, Robert B., Jackson-Cook, Colleen, Koduru, Prasad, Leung, Marco L., Li, Shibo, Liu, Pengfei, Luo, Minjie, Mao, Rong, Mason-Suares, Heather, Mikhail, Fady M., Moore, Stephen R., Naeem, Rizwan C., Pollard, Laura M., Repnikova, Elena A., Shao, Lina, Shaw, Brandon M., Shetty, Shashirekha, Smolarek, Teresa A., Spiteri, Elizabeth, Van Ziffle, Jessica, Vance, Gail H., Vnencak-Jones, Cindy L., Williams, Eli S.

المصدر: In Genetics in Medicine Open 2024 2

المؤلفون: Deignan, Joshua L., Gregg, Anthony R., Grody, Wayne W., Guo, Michael H., Kearney, Hutton, Monaghan, Kristin G., Raraigh, Karen S., Taylor, Jennifer, Zepeda-Mendoza, Cinthya J., Ziats, Catherine

المصدر: In Genetics in Medicine August 2023 25(8)

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: Ngo, Kathie J, Rexach, Jessica E, Lee, Hane, Petty, Lauren E, Perlman, Susan, Valera, Juliana M, Deignan, Joshua L, Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E, Jhangiani, Shalini N, Coban‐Akdemir, Zeynep H, Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B, Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D, Grody, Wayne W, Gibbs, Richard, Geschwind, Daniel H, Lupski, James R, Below, Jennifer E, Nelson, Stanley F, Fogel, Brent L

المصدر: Human Mutation. 41(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Human Genome, Neurosciences, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Neurological, Cerebellar Ataxia, DNA Copy Number Variations, Exome, Genetic Association Studies, Genetic Linkage, Genetic Predisposition to Disease, Humans, Microsatellite Repeats, Nervous System Diseases, Exome Sequencing, ataxia, cerebellar ataxia, cerebellum, diagnostic testing, exome, gait disorders, genetics, genomics, neurogenetics, spastic paraparesis, spastic paraplegia, spinocerebellar ataxia, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0t0122d6

المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, Wentzensen, Ingrid, Crunk, Amy, Nicholls, Robert, Deignan, Joshua, Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, Martinez, Jose, Finnila, Candice, Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, Lindhout, Dick, Au, Margaret, Graham, John, Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, Lessard, Julie, Ernst, Carl, Campeau, Philippe, Herman, Kristin

المصدر: American Journal of Human Genetics. 104(5)

مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Actins, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Dendrites, Epilepsy, Female, Humans, Induced Pluripotent Stem Cells, Infant, Male, Mutation, Neurodevelopmental Disorders, Neurons, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m384791

المؤلفون: Parker, John, Mozaffar, Tahseen, Messmore, Ashlynn, Deignan, Joshua L, Kimonis, Virginia E, Ringman, John M

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Acquired Cognitive Impairment, Aging, Brain Disorders, Neurodegenerative, Alzheimer's Disease, Pediatric, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Behavioral and Social Science, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Alzheimer Disease, Genetic Predisposition to Disease, Homozygote, Humans, Male, Mutation, Phenotype, Presenilin-1, PSEN1, Alzheimer's disease, Spastic paraparesis, A431E, Autosomal dominant, REM behavior disorder, Alzheimer’s disease, Psychology, Cognitive Sciences, Biochemistry and cell biology, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6zd3b5kz
https://escholarship.org/content/qt6zd3b5kz/qt6zd3b5kz.pdf

المؤلفون: Ji, Jianling^{Aff1, Aff2}, Leung, Marco L.^{Aff3, Aff4}, Baker, Samuel, Deignan, Joshua L., Santani, Avni^{Aff7, Aff8}

المصدر: Molecular Diagnosis & Therapy. 25(5):529-536

المؤلفون: Chao, Elizabeth C.^{Aff1, Aff2}, Astbury, Caroline, Deignan, Joshua L., Pronold, Melissa, Reddi, Honey V.^{Aff5, Aff6}, Weitzel, Jeffrey N., ^Aff8

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(7):1179-1184

المؤلفون: O'Daniel, Julianne M, McLaughlin, Heather M, Amendola, Laura M, Bale, Sherri J, Berg, Jonathan S, Bick, David, Bowling, Kevin M, Chao, Elizabeth C, Chung, Wendy K, Conlin, Laura K, Cooper, Gregory M, Das, Soma, Deignan, Joshua L, Dorschner, Michael O, Evans, James P, Ghazani, Arezou A, Goddard, Katrina A, Gornick, Michele, Farwell Hagman, Kelly D, Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A, Holm, Ingrid A, Jarvik, Gail P, Knight Johnson, Amy, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E, Punj, Sumit, Richards, C Sue, Santani, Avni, Shirts, Brian H, Spinner, Nancy B, Tang, Sha, Weck, Karen E, Wolf, Susan M, Yang, Yaping, Rehm, Heidi L

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 19(5)

مصطلحات موضوعية: Disclosure, Genetic Testing: methods, standards, Humans, Incidental Findings, Information Dissemination, Laboratories: ethics, standards, Practice Guidelines as Topic, Research Report, Sample Size, Sequence Analysis, DNA: methods, standards, Surveys and Questionnaires

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/36w1z6tw

المؤلفون: Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, Lincoln, Sharyn A

المصدر: American Journal of Human Genetics. 100(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Missense, Neoplasm Proteins, Pedigree, Phenotype, Repressor Proteins, Spasms, Infantile, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, NACC1, cataracts, developmental/intellectual disabilities, epilepsy, irritability, microcephaly, stereotypy, whole-exome sequencing, 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/7290n3b3