المؤلفون: Zalusky, Miranda P.G., Gustafson, Jonas A., Bohaczuk, Stephanie C., Mallory, Ben, Reed, Paxton, Wenger, Tara, Beckman, Erika, Chang, Irene J., Paschal, Cate R., Buchan, Jillian G., Lockwood, Christina M., Puia-Dumitrescu, Mihai, Garalde, Daniel R., Guillory, Joseph, Markham, Androo J., Bamshad, Michael J., Eichler, Evan E., Stergachis, Andrew B., Miller, Danny E.

المساهمون: National Institutes of Health, National Human Genome Research Institute, National Institute of Mental Health

المصدر: Genetics in Medicine Open ; volume 2, page 101833 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101833Test
https://api.elsevier.com/content/article/PII:S2949774424009798?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424009798?httpAccept=text/plainTest

المؤلفون: Pujol-Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E, Albano, Giuseppe, Miller, Danny E, Allworth, Aimee, Bennett, James T, Byers, Peter H, Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B, Gillentine, Madelyn A, Glass, Ian, Hing, Anne, Horike-Pyne, Martha, Leppig, Kathleen A, Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H, Rosenthal, Elisabeth A, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P, Timms, Andrew, Wener, Mark, Bamshad, Michael J, Hisama, Fuki M, Jarvik, Gail P, Dipple, Katrina M, Hediger, Matthias A., Stergachis, Andrew B

المصدر: Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; . (2023). Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Annals of Clinical and Translational Neurology, 10(6), pp. 1046-1053. Wiley 10.1002/acn3.51786

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/182661Test/

الإتاحة: https://doi.org/10.1002/acn3.51786Test
https://boris.unibe.ch/182661/1/Ann_Clin_Transl_Neurol_-_2023_-_Pujol_Gim_nez_-_Dominant_negative_variant_in_SLC1A4_causes_an_autosomal_dominant_epilepsy.pdfTest
https://boris.unibe.ch/182661Test/

المؤلفون: Pujol‐Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E., Albano, Giuseppe, Miller, Danny E., Allworth, Aimee, Bennett, James T., Byers, Peter H., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Gillentine, Madelyn A., Glass, Ian, Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H., Rosenthal, Elisabeth A., Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Dipple, Katrina M., Hediger, Matthias A., Stergachis, Andrew B.

المساهمون: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, National Institutes of Health, Burroughs Wellcome Fund, National Human Genome Research Institute

المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 6, page 1046-1053 ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.51786Test

المؤلفون: Ma, Joanne G., O’Neill, Matthew J., Richardson, Ebony, Thomson, Kate L., Ingles, Jodie, Muhammad, Ayesha, Solus, Joseph F., Davogustto, Giovanni, Anderson, Katherine C., Shoemaker, M. Benjamin, Stergachis, Andrew B., Floyd, Brendan J., Dunn, Kyla, Parikh, Victoria N., ChubbW, Henry, Perrin, Mark J., Roden, Dan M., Vandenberg, Jamie I., Ng, Chai-Ann, Glazer, Andrew M.

المصدر: Circulation: Genomic and Precision Medicine ; ISSN 2574-8300

الإتاحة: https://doi.org/10.1161/circgen.124.004569Test

المؤلفون: Pak, Christine M, Gilmore, Marian J, Bulkley, Joanna E, Chakraborty, Pranesh, Dagan-Rosenfeld, Orit, Foreman, Ann Katherine M, Gollob, Michael H, Jenkins, Charisma L, Katz, Alexander E, Lee, Kristy, Meeks, Naomi, O'Daniel, Julianne M, Posey, Jennifer E, Rego, Shannon M, Shah, Neethu, Steiner, Robert D, Stergachis, Andrew B, Subramanian, Sai Lakshmi, Trotter, Tracy, Wallace, Kathleen, Williams, Marc S, Goddard, Katrina A B, Buchanan, Adam H, Manickam, Kandamurugu, Powell, Bradford, Ezzell Hunter, Jessica

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:8

مصطلحات موضوعية: Actionability assertions, Assertions rubric, Clinical actionability, Genome sequencing, Secondary findings

العلاقة: https://doi.org/10.1016/j.gim.2024.101164Test; https://pubmed.ncbi.nlm.nih.gov/38757444Test

الإتاحة: https://doi.org/10.1016/j.gim.2024.101164Test
https://pubmed.ncbi.nlm.nih.gov/38757444Test

المؤلفون: Grasberger, Helmut, Dumitrescu, Alexandra M, Liao, Xiao-Hui, Swanson, Elliott G, Weiss, Roy E, Srichomkwun, Panudda, Pappa, Theodora, Chen, Junfeng, Yoshimura, Takashi, Hoffmann, Phillip, França, Monica Malheiros, Tagett, Rebecca, Onigata, Kazumichi, Costagliola, Sabine, Ranchalis, Jane, Vollger, Mitchell R, Stergachis, Andrew B, Chong, Jessica X, Bamshad, Michael J, Smits, Guillaume, Vassart, Gilbert, Refetoff, Samuel

المصدر: Nat Genet ; ISSN:1546-1718 ; Volume:56 ; Issue:5

العلاقة: https://doi.org/10.1038/s41588-024-01717-7Test; https://pubmed.ncbi.nlm.nih.gov/38714869Test

الإتاحة: https://doi.org/10.1038/s41588-024-01717-7Test
https://pubmed.ncbi.nlm.nih.gov/38714869Test

المؤلفون: Cheng, Y. H. Hank, Bohaczuk, Stephanie C., Stergachis, Andrew B.

المصدر: Human Genetics; Apr2024, Vol. 143 Issue 4, p559-605, 47p

مصطلحات موضوعية: REGULATOR genes, GENETIC variation, GENETIC regulation, RNA splicing, NUCLEOTIDE sequencing, GENETIC code, NEURAL codes

المؤلفون: Isaac, R. Stefan, Tullius, Thomas W., Hansen, Katja G., Dubocanin, Danilo, Couvillion, Mary, Stergachis, Andrew B., Churchman, L. Stirling

المصدر: Nature Structural and Molecular Biology; March 2024, Vol. 31 Issue: 3 p568-577, 10p

المؤلفون: Girskis, Kelly M., Stergachis, Andrew B., DeGennaro, Ellen M., Doan, Ryan N., Qian, Xuyu, Johnson, Matthew B., Wang, Peter P., Sejourne, Gabrielle M., Nagy, M. Aurel, Pollina, Elizabeth A., Sousa, André M.M., Shin, Taehwan, Kenny, Connor J., Scotellaro, Julia L., Debo, Brian M., Gonzalez, Dilenny M., Rento, Lariza M., Yeh, Rebecca C., Song, Janet H.T., Beaudin, Marc, Fan, Jean, Kharchenko, Peter V., Sestan, Nenad, Greenberg, Michael E., Walsh, Christopher A.

المصدر: Neuron ; volume 109, issue 20, page 3239-3251.e7 ; ISSN 0896-6273

مصطلحات موضوعية: General Neuroscience

الإتاحة: https://doi.org/10.1016/j.neuron.2021.08.005Test
https://api.elsevier.com/content/article/PII:S0896627321005808?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0896627321005808?httpAccept=text/plainTest

المؤلفون: Stergachis, Andrew B., Krier, Joel B., Merugumala, Sai K., Berry, Gerard T., Lin, Alexander P.

المصدر: Molecular Genetics and Metabolism Reports ; volume 27, page 100742 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100742Test
https://api.elsevier.com/content/article/PII:S2214426921000367?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426921000367?httpAccept=text/plainTest