المؤلفون: Rego, Shannon, Hoban, Hannah, Outram, Simon, Zamora, Astrid N, Chen, Flavia, Sahin-Hodoglugil, Nuriye, Anguiano, Beatriz, Norstad, Matthew, Yip, Tiffany, Lianoglou, Billie, Sparks, Teresa N, Norton, Mary E, Koenig, Barbara A, Slavotinek, Anne M, Ackerman, Sara L

المصدر: Genetics in Medicine. 24(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Human Genome, Clinical Research, Child, Exome, Family, Female, Genome, Human, Genomics, Humans, Pregnancy, Exome Sequencing, Exome sequencing, Genome sequencing, Secondary findings, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/174592k3Test

المؤلفون: Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata JM, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, Zarate, Yuri A

المصدر: American Journal of Human Genetics. 108(1)

مصطلحات موضوعية: Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/14k5b9qxTest

المؤلفون: Horowitz, Carol R, Orlando, Lori A, Slavotinek, Anne M, Peterson, Josh, Angelo, Frank, Biesecker, Barbara, Bonham, Vence L, Cameron, Linda D, Fullerton, Stephanie M, Gelb, Bruce D, Goddard, Katrina AB, Hailu, Benyam, Hart, Ragan, Hindorff, Lucia A, Jarvik, Gail P, Kaufman, Dave, Kenny, Eimear E, Knight, Sara J, Koenig, Barbara A, Korf, Bruce R, Madden, Ebony, McGuire, Amy L, Ou, Jeffrey, Wasserstein, Melissa P, Robinson, Mimsie, Leventhal, Howard, Sanderson, Saskia C

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Genetics, Biological Sciences, Prevention, Human Genome, Clinical Research, Biotechnology, Good Health and Well Being, Biomedical Research, Delivery of Health Care, Integrated, Genetics, Medical, Genomics, Humans, Models, Theoretical, Precision Medicine, Rare Diseases, Research Design, conceptual, diversity, framework, genomics, implementation, model, translational research, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3mj9f0tdTest

المؤلفون: Amendola, Laura M, Berg, Jonathan S, Horowitz, Carol R, Angelo, Frank, Bensen, Jeannette T, Biesecker, Barbara B, Biesecker, Leslie G, Cooper, Gregory M, East, Kelly, Filipski, Kelly, Fullerton, Stephanie M, Gelb, Bruce D, Goddard, Katrina AB, Hailu, Benyam, Hart, Ragan, Hassmiller-Lich, Kristen, Joseph, Galen, Kenny, Eimear E, Koenig, Barbara A, Knight, Sara, Kwok, Pui-Yan, Lewis, Katie L, McGuire, Amy L, Norton, Mary E, Ou, Jeffrey, Parsons, Donald W, Powell, Bradford C, Risch, Neil, Robinson, Mimsie, Rini, Christine, Scollon, Sarah, Slavotinek, Anne M, Veenstra, David L, Wasserstein, Melissa P, Wilfond, Benjamin S, Hindorff, Lucia A, consortium, CSER, Plon, Sharon E, Jarvik, Gail P

المصدر: American Journal of Human Genetics. 103(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Services and Systems, Health Sciences, Clinical Sciences, Clinical Research, Human Genome, Health Services, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Adult, Cost-Benefit Analysis, Delivery of Health Care, Europe, Exome, Genome, Human, Genomics, Humans, National Human Genome Research Institute (U.S.), Phenotype, United States, Whole Genome Sequencing, CSER consortium, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5463d72dTest

المؤلفون: Bowling, Kevin M, Thompson, Michelle L, Kelly, Melissa A, Scollon, Sarah, Slavotinek, Anne M, Powell, Bradford C, Kirmse, Brian M, Hendon, Laura G, Brothers, Kyle B, Korf, Bruce R, Cooper, Gregory M, Greally, John M, Hurst, Anna C E

المصدر: 2020-Current year OA Pubs

مصطلحات موضوعية: Humans, United States, Genome, Human, Chromosome Mapping, Base Sequence, Exome, Genomics, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://digitalcommons.wustl.edu/oa_4/2242Test; https://digitalcommons.wustl.edu/context/oa_4/article/3247/viewcontent/s13073_022_01139_2.pdfTest

الإتاحة: https://doi.org/10.1186/s13073-022-01139-2Test
https://digitalcommons.wustl.edu/oa_4/2242Test
https://digitalcommons.wustl.edu/context/oa_4/article/3247/viewcontent/s13073_022_01139_2.pdfTest

المؤلفون: Bowling, Kevin M., Thompson, Michelle L., Kelly, Melissa A., Scollon, Sarah, Slavotinek, Anne M., Powell, Bradford C., Kirmse, Brian M., Hendon, Laura G., Brothers, Kyle B., Korf, Bruce R., Cooper, Gregory M., Greally, John M., Hurst, Anna C. E.

المصدر: Genome Medicine; 11/21/2022, Vol. 14 Issue 1, p1-17, 17p

المؤلفون: Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Palko Dinulos, Mary Beth, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Jr., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cystic fibrosis, Inborn genetic diseases, Genomics, Mutation

وصف الملف: application/pdf

العلاقة: American Journal of Human Genetics; Biesecker LG, Adam MP, Alkuraya FS, et al. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021;108(1):8-15. doi:10.1016/j.ajhg.2020.11.013; https://hdl.handle.net/1805/31059Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.013Test
https://hdl.handle.net/1805/31059Test

المؤلفون: Ko, Jaemin, Pomerantz, Jason H., Perry, Hazel, Shieh, Joseph T., Slavotinek, Anne M., Oberoi, Snehlata, Klein, Ophir D.

المصدر: Cleft Palate Craniofacial Journal; Jan2020, Vol. 57 Issue 1, p132-136, 5p

مصطلحات موضوعية: HUMAN abnormalities, DWARFISM, CEPHALOMETRY, CLEFT lip, GENETICS, GENETIC mutation, RARE diseases, SPEECH disorders, TEETH abnormalities, GENOMICS, CRANIOFACIAL abnormalities, SEQUENCE analysis, SYMPTOMS