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1دورية أكاديمية
المؤلفون: Leping Li, Lalith Perera, Sonia A. Varghese, Yael Shiloh-Malawsky, Senyene E. Hunter, Tam P. Sneddon, Cynthia M. Powell, A. Gregory Matera, Zheng Fan
المصدر: Frontiers in Cellular Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: spinal muscular atrophy (SMA), c.796T>C variant, g.27134T>G polymorphism, African American, non-deletion, modeling, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fncel.2023.1259380/fullTest; https://doaj.org/toc/1662-5102Test
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المؤلفون: Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
المساهمون: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩مصطلحات موضوعية: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8Test
https://doi.org/10.1016/j.gim.2022.05.001Test -
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المؤلفون: Leping Li, Lalith Perera, Sonia A. Varghese, Yael Shiloh-Malawsky, Senyene E. Hunter, Tam P. Sneddon, Cynthia M. Powell, A. Gregory Matera, Zheng Fan
مصطلحات موضوعية: Cell Biology, Neuroscience, Cellular Nervous System, Central Nervous System, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Protein Trafficking, spinal muscular atrophy (SMA), c.796T>C variant, g.27134T>G polymorphism, African American, non-deletion, modeling, YG Box
الإتاحة: https://doi.org/10.3389/fncel.2023.1259380.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_A_homozygous_missense_variant_in_the_YG_box_domain_in_an_individual_with_severe_spinal_muscular_atrophy_a_case_report_and_variant_characterization_docx/24197286Test -
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المؤلفون: Daniel P. Gale, Andrew Mallett, Detlef Bockenhauer, Tam P. Sneddon, Heidi L. Rehm, Matthew G. Sampson, Chirag Patel
المصدر: Nature Reviews Nephrology. 16:616-618
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Kidney, business.industry, 030232 urology & nephrology, MEDLINE, medicine.disease, Precision medicine, Molecular medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Nephrology, Genetic variation, medicine, Medical diagnosis, Intensive care medicine, business, Uncertain significance, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef041d6d8ca0c9c6e9f6b0c6cb5c36a8Test
https://doi.org/10.1038/s41581-020-0277-6Test -
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المؤلفون: Cynthia M. Powell, Kathleen Kaiser-Rogers, Ashley B. Pendleton, Lori A. Ramkissoon, Tam P. Sneddon
المصدر: Molecular Genetics and Metabolism. 132:S246-S247
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Endocrinology, Endocrinology, Diabetes and Metabolism, Rare case, Genetics, medicine, Biology, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2bcc89216f3d1086fe273a4f33ac2124Test
https://doi.org/10.1016/s1096-7192Test(21)00461-3 -
6دورية أكاديمية
المؤلفون: Elspeth A. Bruford, Michael J. Lush, Mathew W. Wright, Tam P. Sneddon, Sue Povey, Ewan Birney
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/34/e0/Nucleic_Acids_Res_2008_Jan_36(Database_issue)_D445-D448.tar.gz
وصف الملف: application/zip
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المؤلفون: Tam P. Sneddon, Lori A. Ramkissoon, Ashley B. Pendleton, Evan D. Martin, Kathleen Kaiser-Rogers
المصدر: Cancer Genetics. :S16
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Retrospective review, Family medicine, Genetics, medicine, Biology, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::30e61434090546ee7c257ce9f9538d8dTest
https://doi.org/10.1016/j.cancergen.2021.01.057Test -
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المؤلفون: Natasha T. Strande, Heidi L. Rehm, Tam P. Sneddon, Christa Lese Martin, Sharon E. Plon, Marina T. DiStefano, Erin Rooney Riggs, Ozge Ceyhan-Birsoy, Erin M. Ramos, Matthew Wright, Adam H. Buchanan, Alan F. Scott, Selina S. Dwight, Rajarshi Ghosh, Monica A. Giovanni, Michael F. Murray, Laura V. Milko, Jonathan S. Berg, Julianne M. O’Daniel, J. Michael Cherry, Bryce A. Seifert, Jennifer L. Goldstein, Avni Santani
مصطلحات موضوعية: 0301 basic medicine, Evidence-based practice, Computer science, Disease, Computational biology, 030105 genetics & heredity, Bioinformatics, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Resource (project management), Genetics, medicine, Humans, Genetic Predisposition to Disease, Set (psychology), Gene, Mendelian disorders, Genetic Association Studies, Genetics (clinical), Genetic testing, 030304 developmental biology, Structure (mathematical logic), 0303 health sciences, medicine.diagnostic_test, Confounding, Reproducibility of Results, Genomics, Variety (linguistics), Data science, 3. Good health, 030104 developmental biology, Clinical validity, Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92dd78bd1982df5b9b927bb4bc68ed9fTest
https://doi.org/10.1101/111039Test -
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المؤلفون: Daryl Waggott, Stephen B. Montgomery, Tam P. Sneddon, Euan A. Ashley, James Ford, Sowmi Utiramerur, Jillian G. Buchan, Kevin Eng, Zachary Zappala, Aaron M. Wenger, Jason D. Merker, Megan E. Grove, Kevin S. Smith, Matthew T. Wheeler, Christine C. Lambert, Luke Hickey, Jonas Korlach, Laure Fresard, Yanli Hou
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Sequence analysis, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Biology, Genome, DNA sequencing, Article, Structural variation, 03 medical and health sciences, Exon, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, Child, Carney complex, Genetics (clinical), Genetic Association Studies, Sequence Deletion, Genetics, Genome, Human, Genetic Diseases, Inborn, Genetic Variation, Genomics, Sequence Analysis, DNA, medicine.disease, Phenotype, 030104 developmental biology, Echocardiography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b352dfc0258a98ef0766df67863879Test
https://pubmed.ncbi.nlm.nih.gov/28640241Test -
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المؤلفون: Jonas Korlach, Aaron M. Wenger, Tam P. Sneddon, Megan E. Grove, Yanli Hou, Sowmi Utiramerur, James Ford, Christine C. Lambert, Luke Hickey, Kevin Eng, Euan A. Ashley, Jason D. Merker, Daryl Waggott
مصطلحات موضوعية: Whole genome sequencing, Sanger sequencing, Structural variation, symbols.namesake, Tandem repeat, Genetic variation, symbols, Genomics, Computational biology, Biology, Genome, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92830f849f948b331a7daf5f8ba157d3Test