المؤلفون: Ana S.A. Cohen, Emily G. Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan M. Amudhavalli, John T. Anderson, Lalit Bansal, Lauren Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra L. Engleman, Erin D. Fecske, Cynthia Fieser, Keely Fitzgerald, Emily A. Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce A. Heese, Wendy Hein, Suzanne M. Herd, Susan S. Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussmann, Christine Lambert, Caitlin Lawson, Jean-Baptiste Le Pichon, James Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M.B. Puckett, Julio F. Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah Soden, Meghan E. Strenk, Bonnie R. Sullivan, Brooke R. Sweeney, Jade B. Tam-Williams, Adam M. Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, Tomi Pastinen

المصدر: Genetics in Medicine. 24:1336-1348

مصطلحات موضوعية: Genome, Rare Diseases, High-Throughput Nucleotide Sequencing, Humans, Genomics, Sequence Analysis, DNA, Child, Genetics (clinical), Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fae080f2e98a691a62cb07ca295bd7e
https://doi.org/10.1016/j.gim.2022.02.007

المؤلفون: Tricia N. Zion, Courtney D. Berrios, Ana S.A. Cohen, Lauren Bartik, Laura A. Cross, Kendra L. Engleman, Emily A. Fleming, Randi N. Gadea, Susan S. Hughes, Janda L. Jenkins, Jennifer Kussmann, Caitlin Lawson, Caitlin Schwager, Meghan E. Strenk, Holly Welsh, Eric T. Rush, Shivarajan M. Amudhavalli, Bonnie R. Sullivan, Dihong Zhou, Jennifer L. Gannon, Bryce A. Heese, Riley Moore, Emelia Boillat, Rebecca L. Biswell, Daniel A. Louiselle, Laura M.B. Puckett, Shanna Beyer, Shelby H. Neal, Victoria Sierant, Macy McBeth, Bradley Belden, Adam M. Walter, Margaret Gibson, Warren A. Cheung, Jeffrey J. Johnston, Isabelle Thiffault, Emily G. Farrow, Elin Grundberg, Tomi Pastinen

المصدر: Genetics in Medicine. 25:100020

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b180ab0366dbf936078c45a8121c275
https://doi.org/10.1016/j.gim.2023.100020

المؤلفون: Jill Jacobson, Keith A Coffman, Susan S Hughes, Caitlin Lawson, Erin D Fecske, Ahmed T Abdelmoity, Thuy Tien T Dang, Annapoorna Nair, Janda L Jenkins, Kendra L Engleman, Daniel A Louiselle, Orion Buske, Nigel Price, Dihong Zhou, Michael Lypka, Courtney D Berrios, Laura Mb Puckett, Kelsee Halpin, Ana Sa Cohen, Nikita Raje, Aaron M Wenger, Emily G Farrow, Keely Fitzgerald, Mohammed Ilyas, Kailash Pawar, Joseph T Alaimo, Jennifer L Gannon, Laurel K Willig, Jean-Baptiste Le Pichon, Shivarajan M Amudhavalli, Christopher M Oermann, Rebecca L Biswell, Shelby H Neal, Lalit Bansal, Elizabeth Shaffer, Brittany D McDonald, Bonnie R Sullivan, Isabelle Thiffault, Christine Lambert, Ashley M Cooper, Suzanne M Herd, Holly Welsh, Julio F Quezada, Carol J Saunders, Caitlin Schwager, Brian S Harvey, Adam M Walter, Donna M Pacicca, Jennifer Kussmann, Rose N Gelineau-Morel, Margaret Gibson, Elin Grundberg, Shao Jiang, Scott T Younger, Steve Leeder, Richard M Schwend, John T Anderson, Venkatesh Sampath, Jonas Korlach, Bryce A Heese, Meghan E Strenk, Neil Miller, Vicki C Little, Ann Modrcin, Brooke R Sweeney, Randi N Gadea, Nyshele L Posey, Emily A Fleming, Wendy Hein, Cynthia Fieser, Eric T Rush, Laura A Cross, Craig Smail, William J Rowell, Kathryn Keeler, Jeffrey Goldstein, Tricia N Zion, Warren A. Cheung, Sarah Soden, Lauren Bartik, Bradley Belden, Thomas Curran, Pawel Buczkowicz, Shreyasee Chakraborty, Yun Yan, Tomi Pastinen, Primo Baybayan, Mary M Elfrink, Jeffrey J Johnston, Jade B Tam-Williams

مصطلحات موضوعية: Unknown Significance, Pedigree chart, Computational biology, Allele, Biology, Gene, Genome, Exome, DNA sequencing, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b55ee732f1ec32f314eebddcd46b6b25
https://doi.org/10.1101/2021.10.07.21264628

المؤلفون: John D. Lantos, Sarah E Soden, Catherine Koertje, Janelle R Noel-Macdonnell PhD, Courtney D Berrios

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Adult, Male, Parents, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Diagnostic information, media_common.quotation_subject, Article, Literacy, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, newborn, Numeracy, law, Intensive Care Units, Neonatal, Surveys and Questionnaires, 030225 pediatrics, Humans, Medicine, Genetic Testing, Genetics (clinical), Depression (differential diagnoses), Retrospective Studies, media_common, Genetic testing, 0303 health sciences, attitudes, Whole Genome Sequencing, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, 3. Good health, genome sequencing, Attitude, Feeling, utility, Family medicine, Anxiety, Female, medicine.symptom, business, risks

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa8ff3765972985ce5c15311ce3b68f
https://doi.org/10.1038/s41436-019-0644-5

المؤلفون: Janda L Jenkins, Margaret Gibson, Emily G. Farrow, Raymond Caylor, Neil A. Miller, Courtney D Berrios, Lee Zellmer, Deb Faller, Carol J Saunders, Sarah E Soden, Isabelle Thiffault

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, Genome sequencing, DNA sequencing, Article, Insurance reimbursement, Cohort Studies, 03 medical and health sciences, Chart review, Exome Sequencing, medicine, Electronic Health Records, Humans, Genetic Testing, Medical diagnosis, Child, Exome, Diagnostics, Genetics (clinical), Reimbursement, Exome sequencing, business.industry, Diagnostic Tests, Routine, Genome, Human, Medical record, Genetic Diseases, Inborn, Clinical validation, Sequence Analysis, DNA, 030104 developmental biology, Phenotype, Cohort, Insurance, Health, Reimbursement, Next-generation sequencing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b71290d7cc651e3a5bc6b508fcd03b7
https://pubmed.ncbi.nlm.nih.gov/30008475