المؤلفون: Heidi L. Rehm, Bethany Zettler, Amy L. McGuire, Sergei Roumiantsev, Dmitry Dukhovny, Kalotina Machini, Talia S. Schwartz, Ozge Ceyhan-Birsoy, Hadley Stevens Smith, Timothy W. Yu, Jill O. Robinson, Devan Petersen, Pankaj B. Agrawal, Chet Graham, Amy E. Roberts, Tiffany T. Nguyen Dolphyn, Tina K. Truong, Maegan Harden, Carrie L. Blout Zawatsky, Casie A. Genetti, Ingrid A. Holm, Shawn Fayer, Xingquan Lu, Harvey L. Levy, Vivek Ramanathan, Richard B. Parad, Leslie A. Frankel, Jaclyn B. Murry, Amanda M. Gutierrez, Wendi N. Betting, Kaitlyn B. Lee, Grace E. VanNoy, Susan E. Waisbren, Robert C. Green, Stacey Pereira, Alan H. Beggs, Matthew S. Lebo, Kurt D. Christensen, Medha Naik, Hayley A. Peoples, Rubaiya Islam, Uma Ramamurthy, Joel B. Krier

المصدر: JAMA Pediatr

مصطلحات موضوعية: Adult, Male, Parents, Pediatrics, medicine.medical_specialty, law.invention, Neonatal Screening, Randomized controlled trial, law, Intensive care, Exome Sequencing, Medicine, Humans, Genetic Predisposition to Disease, Parent-Child Relations, Family history, Child, Generalized estimating equation, Original Investigation, Newborn screening, business.industry, Infant, Newborn, Genomics, Edinburgh Postnatal Depression Scale, Pediatrics, Perinatology and Child Health, Anxiety, Female, medicine.symptom, business, Psychosocial

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8443c79829316490733916ea5ce473
https://europepmc.org/articles/PMC8383160/

المؤلفون: Monica H. Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Robert C. Green, Pankaj B. Agrawal, Wendi N. Betting, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Chet Graham, Amanda M. Guiterrez, Maegan Harden, Joel B. Krier, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Amy Roberts, Jill O. Robinson, Serguei Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren

المصدر: Genet Med

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Population, 030105 genetics & heredity, Monogenic disease, Article, 03 medical and health sciences, Neonatal Screening, Risk Factors, Exome Sequencing, False positive paradox, Medicine, Humans, education, Genetics (clinical), Exome sequencing, Newborn screening, education.field_of_study, business.industry, Genomic sequencing, Infant, Newborn, food and beverages, Chromosome Mapping, Infant, Hearing screen, Genomics, 030104 developmental biology, embryonic structures, business, Genetic diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9288dd36de1e43b2de12db9508078a18
https://pubmed.ncbi.nlm.nih.gov/33772220

المؤلفون: Ozge Ceyhan-Birsoy, Jaclyn B. Murry, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Shawn Fayer, Casie A. Genetti, Talia S. Schwartz, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Heidi L. Rehm, Alan H. Beggs, Wendi N. Betting, Kurt D. Christensen, Dmitry Dukhovny, Leslie A. Frankel, Chet Graham, Amanda M. Guiterrez, Maegan Harden, Joel B. Krier, Harvey L. Levy, Xingquan Lu, Medha Naik, Tiffany T. Nguyen, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Amy Roberts, Jill O. Robinson, Serguei Roumiantsev, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren

المصدر: The American Journal of Human Genetics. 104:76-93

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Neonatal intensive care unit, Disease, 030105 genetics & heredity, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, Family history, Genetics (clinical), Exome sequencing, Genetic testing, Newborn screening, medicine.diagnostic_test, Genome, Human, business.industry, Racial Groups, Infant, Newborn, Genetic Variation, Genomics, Sequence Analysis, DNA, 030104 developmental biology, Health, Pharmacogenetics, Pharmacogenomics, Female, Age of onset, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76d6d7550ab9b0ec4ff2364fed34303c
https://doi.org/10.1016/j.ajhg.2018.11.016

المؤلفون: Casie A. Genetti, Talia S. Schwartz, Jill O. Robinson, Grace E. VanNoy, Devan Petersen, Stacey Pereira, Shawn Fayer, Hayley A. Peoples, Pankaj B. Agrawal, Wendi N. Betting, Ingrid A. Holm, Amy L. McGuire, Susan E. Waisbren, Timothy W. Yu, Robert C. Green, Alan H. Beggs, Richard B. Parad, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Leslie A. Frankel, Chet Graham, Amanda M. Gutierrez, Maegan Harden, Joel B. Krier, Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy Roberts, Serguei Roumiantsev, Tina K. Truong

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

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Parents, medicine.medical_specialty, Parental Concerns, media_common.quotation_subject, Genetic counseling, Consent for Genomic Testing, 030105 genetics & heredity, Article, law.invention, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Randomized controlled trial, law, Informed consent, 030225 pediatrics, medicine, Humans, Genetic Testing, Predictive testing, Insurability, Genetics (clinical), media_common, Genetic testing, Newborn screening, Genomic Sequencing, Informed Consent, medicine.diagnostic_test, business.industry, Patient Selection, Infant, Newborn, Sequence Analysis, DNA, Newborn, 3. Good health, Feeling, Family medicine, Female, business, Attitude to Health, Newborn Screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebe7d6f9779b8ca8ff303e24190e48f1
http://europepmc.org/articles/PMC6420384

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