المؤلفون: Fabio Fuligni, Robert Thaenert, Aidan Hennigan, Duncan Kilburn, Valeriya Gaysinskaya, Egor Dolzhenko, Guilherme De Sena Brandine, Sarah Kingan, Jason Evans, Danuta Hietpas, Hannah White, Tamara Smith, Timothy Looney, Ray Veeraraghavan, Tina Hambuch-Hawks, Christopher Elzinga, Meaghan Russell

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101120- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002668; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/605140cf4b3c4596b6038a41f352dd79

المؤلفون: Susan Rojahn, Tina Hambuch, Jessika Adrian, Erik Gafni, Alex Gileta, Hannah Hatchell, Britt Johnson, Ben Kallman, Kate Karfilis, Curtis Kautzer, Michael Kennemer, Lloyd Kirk, Daniel Kvitek, Jessica Lettes, Fenner Macrae, Fernando Mendez, Joshua Paul, Maurizio Pellegrino, Ronny Preciado, Jan Risinger, Matthew Schultz, Lindsay Spurka, Sajani Swamy, Rebecca Truty, Nathan Usem, Andrea Velenich, Swaroop Aradhya

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)

مصطلحات موضوعية: bioinformatics, genetic testing, molecular genetics, next‐generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/f96c2a3a0d53441093c4dd5a10f72c60

المؤلفون: Megan H. Cleveland, Shazia Mahamdallie, Brian H. Shirts, Stephen F. Kingsmore, Nazneen Rahman, Eric W. Klee, Farol L. Tomson, Swaroop Aradhya, Kathryn E. Hatchell, Wasanthi DeSilva, Sara L. Bristow, Tina Hambuch, Sheila Seal, Michael Kennemer, Matthew J. Ferber, Shimul Chowdhury, Peter M. Vallone, Andrew Fellowes, Russell Garlick, Justin M. Zook, Robert L. Nussbaum, Yan Ding, Rebecca Truty, Marc L. Salit, Catherine Huang, Stephen E. Lincoln

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, business.industry, Medical laboratory, High-Throughput Nucleotide Sequencing, Pilot Projects, Computational biology, Biology, Article, Human genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, INDEL Mutation, Clinical genetic, Humans, Medicine, Hereditary Cancer, Genetic Testing, Child, Indel, Carrier screening, business, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba13623212faa2e5f9782daac0df4e0
https://doi.org/10.1038/s41436-021-01187-w

المؤلفون: Alison J. Coffey, Alka Malhotra, Bryan R. Lajoie, Egor Dolzhenko, Denise L. Perry, Alicia Scocchia, R. Tanner Hagelstrom, Amirah Khouzam, Ryan J. Taft, Vani Rajan, Tina Hambuch, Stephen Tanner, Natasa Dzidic, Shimul Chowdhury, Andrew M. Gross, Trilochan Sahoo, Eric Roller, Subramanian S. Ajay, Erin Thorpe, Nicole J. Burns, Karine Hovanes, Sergii Ivakhno, David R. Bentley, Julia McEachern, Michael A. Eberle, Carolyn Brown, John W Belmont, Aditi Chawla, Krista Bluske

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Microarray, whole genome sequencing (WGS), Computational biology, Disease, 030105 genetics & heredity, Biology, Undiagnosed Diseases, Article, DNA sequencing, Cohort Studies, Young Adult, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Copy-number variation, Child, Genetics (clinical), Whole Genome Sequencing, Genome, Human, Breakpoint, Chromosome Mapping, Infant, Genomics, medicine.disease, Uniparental disomy, rare and undiagnosed disease, copy number variation (CNV), 030104 developmental biology, Child, Preschool, structural variation (SV), Female, DNA microarray, Trisomy, microarray

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ecb31e85cff844f73337a67a065224
https://doi.org/10.1038/s41436-018-0295-y

المؤلفون: Patricia A. Ward, Lindsey Mighion, Jerry Machado, Rong Mao, Celeste Eno, Kelly D. Farwell Hagman, Dima El-Khechen, Jane Juusola, Lora J. H. Bean, Alicia Braxton, Pinar Bayrak-Toydemir, Heidi L. Rehm, Amy Lovelette Hernandez, Gina Londre, Bethany Friedman, Elizabeth C. Chao, Edward D. Esplin, Joshua L. Deignan, Tina Hambuch

المصدر: Genetics in Medicine. 21:861-866

مصطلحات موضوعية: Male, Parents, 0301 basic medicine, medicine.medical_specialty, Standardization, Genetics, Medical, Genomics, 030105 genetics & heredity, Genome, DNA sequencing, 03 medical and health sciences, Surveys and Questionnaires, Exome Sequencing, medicine, Humans, Relevance (law), Exome, Genetic Testing, Genetics (clinical), Incidental Findings, Informed Consent, Whole Genome Sequencing, Genome, Human, Clinical Laboratory Services, 030104 developmental biology, Family medicine, Medical genetics, Female, Genetic relatedness, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72735f395699c6d09abcfbb91180da43
https://doi.org/10.1038/s41436-018-0265-4

المؤلفون: Kalotina Machini, Nicole Soranzo, Maria Aguad, Christine E. Seidman, Leslie E. Silberstein, Erica F. Schonman, Michael F. Murray, David W. Bates, Denise L. Perry, Heather M. McLaughlin, John Danesh, Sek Won Kong, Klaudia Walter, Tina Hambuch, Isaac S. Kohane, Judy Garber, William J. Lane, Allison L. Cirino, Carrie L. Blout, Connie M. Westhoff, Matthew S. Lebo, Ellen A. Tsai, Pamela M. Diamond, Eleanor Steffens, Lindsay Z. Feuerman, Heidi L. Rehm, Helen Mah, Cynthia C. Morton, Wendi N. Betting, David J. Roberts, Sunitha Vege, Richard M. Kaufman, Lisa Soleymani Lehmann, Jill O. Robinson, Daimon P. Simmons, Amy L. McGuire, Peter Kraft, Nicholas A. Watkins, Kaitlyn B. Lee, Adam S. Butterworth, Emanuele Di Angelantonio, Willem H. Ouwehand, J. Scott Roberts, Shamil R. Sunyaev, Calum A. MacRae, Nicholas Gleadall, Joel B. Krier, Robin Smeland-Wagman, Jason L. Vassy, Ozge Ceyhan-Birsoy, Danielle R. Azzariti, Samuel J. Aronson, Tiffany T. Nguyen, Robert C. Green, Kurt D. Christensen, Carolyn Y. Ho, Kelly Davis, Peter A. Ubel, Melody J. Slashinski, Jennifer Blumenthal-Barby

المصدر: The Lancet Haematology. 5:e241-e251

مصطلحات موضوعية: 0301 basic medicine, Whole genome sequencing, medicine.medical_specialty, Blood transfusion, business.industry, medicine.medical_treatment, Transfusion medicine, Hematology, Computational biology, 030204 cardiovascular system & hematology, Genome, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, ABO blood group system, medicine, SNP, Human genome, Typing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::753a532a3e9fab91d4d460638c7ae9c1
https://doi.org/10.1016/s2352-3026(18)30053-x

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

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M; Bale, Sherri J; Berg, Jonathan S; Bick, David; et al.(2017). A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.. Genetics in medicine : official journal of the American College of Medical Genetics, 19(5), 575-582. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/36w1z6tw

مصطلحات موضوعية: methods, standards [Sequence Analysis, DNA], Research Report, 0301 basic medicine, Best practice, Disclosure, 030105 genetics & heredity, Biology, Bioinformatics, Article, genetic testing, ethics, standards [Laboratories], 03 medical and health sciences, Documentation, laboratory standards, Surveys and Questionnaires, Medicine and Health Sciences, Humans, standards [Genetic Testing], clinical reporting, Exome, Genetics (clinical), Exome sequencing, Multiple choice, Incidental Findings, Medical education, Information Dissemination, Sequence Analysis, DNA, 3. Good health, genome sequencing, Data sharing, 030104 developmental biology, Workflow, Sample Size, Practice Guidelines as Topic, Laboratories, exome sequencing, Personal genomics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889af21b96e0c10168658f258ca287db
https://doi.org/10.1038/gim.2016.152

المؤلفون: David Dimmock, Elizabeth A. Worthey, Juliet N. Kersten, Thomas May, Daniel Helbling, Paula E. North, Brandon Wilk, Mary Shimoyama, Regan Veith, Howard J. Jacob, Steven R. Leuthner, Rodney E. Willoughby, Tina Hambuch, David P. Bick, Sasha Z. Prisco, Michael F. Gutzeit, James W. Verbsky, Kimberly A. Strong, Bryce A. Schuler, Jeremy M. Harris, Scott K. Van Why, Pamela C. Fraser, Arthur Weborg

المصدر: Journal of Pediatric Genetics. :061-076

مصطلحات موضوعية: 0301 basic medicine, Whole genome sequencing, medicine.medical_specialty, Medical surveillance, business.industry, PDGFRB, Disease, Bioinformatics, Genome, 03 medical and health sciences, 030104 developmental biology, Internal medicine, Pediatrics, Perinatology and Child Health, Genetics clinic, medicine, Medical genetics, Pilot program, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97288ff04f465147e03bf4644979b426
https://doi.org/10.1055/s-0036-1593968

المؤلفون: Joseph M. Devaney, Cas Simons, Brent L. Fogel, Guy Helman, Joanna Crawford, Miriam Bloom, Marjo S. van der Knaap, Vani Rajan, Shimul Chowdhury, David M. Miller, Tina Hambuch, Nathan McNeill, Amirah Khouzam, Ryan J. Taft, Amy Pizzino, Nicole I. Wolf, Geneviève Bernard, Sarah H. Evans, Erica Ramos, Kelin Ru, Raphael Schiffmann, Johanna L. Schmidt, Jennifer L. Murphy, Gregory J. Baillie, Sean M. Grimmond, Adeline Vanderver, Asako Takanohashi, Ljubica Caldovic

المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Other departments

المصدر: Annals of Neurology, 79(6), 1031-1037. John Wiley and Sons Inc.
Annals of neurology, 79(6), 1031-1037. John Wiley and Sons Inc.
Vanderver, A, Simons, C, Helman, G, Crawford, J, Wolf, N I, Bernard, G, Pizzino, A, Schmidt, J L, Takanohashi, A, Miller, D, Khouzam, A, Rajan, V, Ramos, E, Chowdhury, S, Hambuch, T, Ru, K, Baillie, G J, Grimmond, S M, Caldovic, L, Devaney, J, Bloom, M, Evans, S H, Murphy, J L P, McNeill, N, Fogel, B L, Schiffmann, R, van der Knaap, M S & Taft, R J 2016, ' Whole Exome Sequencing in Patients with White Matter Abnormalities ', Annals of Neurology, vol. 79, no. 6, pp. 1031-1037 . https://doi.org/10.1002/ana.24650

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Disease, Biology, Article, Leukoencephalopathy, White matter, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Leukoencephalopathies, Internal medicine, medicine, Humans, Exome, Child, Exome sequencing, Leukodystrophy, medicine.disease, White Matter, 030104 developmental biology, Clinical research, medicine.anatomical_structure, Neurology, Child, Preschool, Cohort, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5232bb7228fb5b8d0e8dd5677e521460
https://doi.org/10.1002/ana.24650

المؤلفون: Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper, Sienna Aguilar, Swaroop Aradhya, Daniel Beltran, Brandon Bunker, Amy Daly, Anne Deucher, Tali Ekstein, Ali Entezam, Karl Erhard, Ed Esplin, Jennifer Fulbright, Amy Fuller, Kristen McDonald Gibson, Tina Hambuch, Rachel Harte, Christy Hartshorne, Eden Haverfield, Nastaran Heidari, Michelle Hogue, Daniela Iacoboni, Britt Johnson, Hio Chung Kang, Rachel Lewis, Shiloh Martin, Sarah McCalmon, Scott Michalski, Cindy Morgan, Laura Murillo, Piper Nicolosi, Karen Ouyang, Carolina Pardo, Rita Quintana, Marina Rabideau, Darlene Riethmaier, Amanda Stafford, Jackie Tahiliani, Chris Tan, S. Paige Taylor, Shu-Huei Wang, Hannah White, Ian Wilson, Tom Winder, Michelle K. Zeman

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Information retrieval, Genome, Human, Computer science, variant interpretation, Published Erratum, MEDLINE, Correction, Genetic Variation, High-Throughput Nucleotide Sequencing, ACMG laboratory guideline, Genomics, Sequence Analysis, DNA, clinical genetic testing, 030105 genetics & heredity, clinical interpretation, 03 medical and health sciences, 030104 developmental biology, Humans, Original Research Article, Genetic Testing, variant classification, Software, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a146539648054315d9d756d7fc859d77
https://doi.org/10.1038/s41436-019-0624-9