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: Phillips, Kathryn A, Trosman, Julia R, Douglas, Michael P, Gelb, Bruce D, Ferket, Bart S, Hindorff, Lucia A, Slavotinek, Anne M, Berg, Jonathan S, Russell, Heidi V, Devine, Beth, Greve, Veronica, Smith, Hadley Stevens

المصدر: Genetics in Medicine. 24(1)

مصطلحات موضوعية: Clinical Research, Genetics, Human Genome, Good Health and Well Being, Base Sequence, Chromosome Mapping, Exome, Humans, Insurance Coverage, Exome Sequencing, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/40k972djTest

المؤلفون: Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S, Yu, Jingwei, Moore, Anthony T, Slavotinek, Anne M

المصدر: Clinical Genetics. 98(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Anophthalmos, Calcium-Binding Proteins, Cation Transport Proteins, Cell Adhesion Molecules, Coloboma, Consanguinity, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Kinesins, Male, Membrane Proteins, Microphthalmos, Mitochondrial Membrane Transport Proteins, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Exome Sequencing, Anophthalmia, cataract, CDON, Microphthalmia, TENM3, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9pk8m065Test

المؤلفون: Sparks, Teresa N, Lianoglou, Billie R, Adami, Rebecca R, Pluym, Ilina D, Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L, Patel, Sachi, Faubel, Amanda, Boe, Nina M, Field, Nancy T, Murphy, Aisling, Laurent, Louise C, Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M, Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Sanders, Stephan J, MacKenzie, Tippi C, Norton, Mary E

المصدر: New England Journal of Medicine. 383(18)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Health Sciences, Brain Disorders, Genetics, Pediatric, Clinical Research, Human Genome, Genetic Testing, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Reproductive health and childbirth, Good Health and Well Being, Female, Genetic Variation, Humans, Hydrops Fetalis, Pregnancy, Prenatal Diagnosis, Prognosis, Exome Sequencing, University of California Fetal–Maternal Consortium, University of California, San Francisco Center for Maternal–Fetal Precision Medicine, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1kf0c1jqTest

المؤلفون: Johnston, Jennifer J, Williamson, Kathleen A, Chou, Christopher M, Sapp, Julie C, Ansari, Morad, Chapman, Heather M, Cooper, David N, Dabir, Tabib, Dudley, Jeffrey N, Holt, Richard J, Ragge, Nicola K, Schäffer, Alejandro A, Sen, Shurjo K, Slavotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme Cm, Biesecker, Leslie G

المصدر: Journal of Medical Genetics. 56(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, 3' Untranslated Regions, Alleles, Anophthalmos, Female, Genes, X-Linked, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Lod Score, Male, Microphthalmos, N-Terminal Acetyltransferase A, N-Terminal Acetyltransferase E, Pedigree, Poly A, Sequence Analysis, DNA, X Chromosome Inactivation, Naa10, polyadenylation signal, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/86f7p7hrTest

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: Pua, Heather H, Krishnamurthi, Swetha, Farrell, Jessica, Margeta, Marta, Ursell, Philip C, Powers, Martin, Slavotinek, Anne M, Jeng, Linda JB

المصدر: American Journal of Medical Genetics Part A. 164(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Pediatric, Biotechnology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Chromosome Deletion, Chromosomes, Human, Pair 9, Comparative Genomic Hybridization, Facies, Fatal Outcome, Female, Gene Deletion, Humans, Infant, Phenotype, 9q21 deletion, craniofacial abnormalities, cleft palate, heart septal defects, atrial, bicorunate uterus, hip dislocation, muscle hypotonia, comparative genomic hybridization, Clinical Sciences, Clinical sciences

الوصول الحر: https://escholarship.org/uc/item/1nr630n9Test

المؤلفون: Johnston, Jennifer J., Williamson, Kathleen A., Chou, Christopher M., Sapp, Julie C., Ansari, Morad, Chapman, Heather M., Cooper, David N., Dabir, Tabib, Dudley, Jeffrey N., Holt, Richard J., Ragge, Nicola K., Schäffer, Alejandro A., Sen, Shurjo K., Slavotinek, Anne M., Fitzpatrick, David R., Glaser, Thomas M., Stewart, Fiona, Black, Graeme C.M., Biesecker, Leslie G.

المصدر: Journal of medical genetics, vol 56, iss 7
Johnston, J J, Williamson, K A, Chou, C M, Sapp, J C, Ansari, M, Chapman, H M, Cooper, D N, Dabir, T, Dudley, J N, Holt, R J, Ragge, N K, Schäffer, A A, Sen, S K, Slavotinek, A M, FitzPatrick, D R, Glaser, T M, Stewart, F, Black, G C & Biesecker, L G 2019, ' NAA10 polyadenylation signal variants cause syndromic microphthalmia ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2018-105836Test
Johnston, Jennifer J; Williamson, Kathleen A; Chou, Christopher M; Sapp, Julie C; Ansari, Morad; Chapman, Heather M; et al.(2019). NAA10 polyadenylation signal variants cause syndromic microphthalmia.. Journal of medical genetics. doi: 10.1136/jmedgenet-2018-105836. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/86f7p7hrTest
Johnston, J J, Williamson, K A, Chou, C M, Sapp, J C, Ansari, M, Chapman, H M, Cooper, D N, Dabir, T, Dudley, J N, Holt, R J, Ragge, N K, Schäffer, A A, Sen, S K, Slavotinek, A M, Fitzpatrick, D R, Glaser, T M, Stewart, F, Black, G C M & Biesecker, L G 2019, ' NAA10 polyadenylation signal variants cause syndromic microphthalmia ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2018-105836Test

مصطلحات موضوعية: Male, Naa10, Genotype, Medical and Health Sciences, Article, X Chromosome Inactivation, Clinical Research, Genetics, Humans, Microphthalmos, 2.1 Biological and endogenous factors, Genetics(clinical), Genetic Predisposition to Disease, N-Terminal Acetyltransferase E, Aetiology, 3' Untranslated Regions, Alleles, Genetic Association Studies, N-Terminal Acetyltransferase A, Genetics & Heredity, polyadenylation signal, Human Genome, Anophthalmos, Genetic Variation, DNA, X-Linked, Biological Sciences, Pedigree, Brain Disorders, Good Health and Well Being, Genes, Female, Lod Score, Poly A, Sequence Analysis

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::839da5368deb19669491ff4be8165564Test
https://escholarship.org/uc/item/86f7p7hrTest