المؤلفون: Mackay, Zoë P, Dukhovny, Dmitry, Phillips, Kathryn A, Beggs, Alan H, Green, Robert C, Parad, Richard B, Christensen, Kurt D, Team, BabySeq Project, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Gutierrez, Amanda M, Harden, Maegan, Holm, Ingrid A, Krier, Joel B, Lebo, Matthew S, Machini, Kalotina, McGuire, Amy L, Naik, Medha, Nguyen, Tiffany T, Pereira, Stacey, Ramanathan, Vivek, Rehm, Heidi L, Roberts, Amy, Robinson, Jill O, Roumiantsev, Sergei, Schwartz, Talia S, Truong, Tina K, VanNoy, Grace E, Waisbren, Susan E, Yu, Timothy W

المصدر: Value in Health. 23(5)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Health Services, Genetics, Clinical Research, Human Genome, 7.3 Management and decision making, 8.1 Organisation and delivery of services, Generic health relevance, Good Health and Well Being, Female, Genetic Testing, Genomics, Humans, Infant, Longitudinal Studies, Male, Parents, Patient Acceptance of Health Care, Risk Factors, Surveys and Questionnaires, Telephone, genetic testing, genomics, healthcare utilization, health services, humans, infant, newborn, medical records, risk factors, surveys and questionnaires, whole exome sequencing, BabySeq Project Team, Public Health and Health Services, Applied Economics, Health Policy & Services, Applied economics, Health services and systems, Policy and administration

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8b3826xr
https://escholarship.org/content/qt8b3826xr/qt8b3826xr.pdf

المؤلفون: Pereira, Stacey, Gutierrez, Amanda M., Robinson, Jill Oliver, Christensen, Kurt D., Genetti, Casie A., Blout Zawatsky, Carrie L., Hsu, Rebecca L., Zettler, Bethany, Uveges, Melissa Kurtz, Parad, Richard B., Beggs, Alan H., Holm, Ingrid A., Green, Robert C., McGuire, Amy L.

المساهمون: National Institutes of Health, National Human Genome Research Institute, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: Genetics in Medicine ; volume 25, issue 3, page 100002 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.100002
https://api.elsevier.com/content/article/PII:S1098360022010693?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022010693?httpAccept=text/plain

المؤلفون: Green, Robert C., Shah, Nidhi, Genetti, Casie A., Yu, Timothy, Zettler, Bethany, Uveges, Melissa K., Ceyhan-Birsoy, Ozge, Lebo, Matthew S., Pereira, Stacey, Agrawal, Pankaj B., Parad, Richard B., McGuire, Amy L., Christensen, Kurt D., Schwartz, Talia S., Rehm, Heidi L., Holm, Ingrid A., Beggs, Alan H.

المصدر: The American Journal of Human Genetics ; volume 110, issue 7, page 1034-1045 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.05.007
https://api.elsevier.com/content/article/PII:S0002929723001647?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723001647?httpAccept=text/plain

المؤلفون: Berg, Jonathan S, Agrawal, Pankaj B, Bailey, Donald B, Beggs, Alan H, Brenner, Steven E, Brower, Amy M, Cakici, Julie A, Ceyhan-Birsoy, Ozge, Chan, Kee, Chen, Flavia, Currier, Robert J, Dukhovny, Dmitry, Green, Robert C, Harris-Wai, Julie, Holm, Ingrid A, Iglesias, Brenda, Joseph, Galen, Kingsmore, Stephen F, Koenig, Barbara A, Kwok, Pui-Yan, Lantos, John, Leeder, Steven J, Lewis, Megan A, McGuire, Amy L, Milko, Laura V, Mooney, Sean D, Parad, Richard B, Pereira, Stacey, Petrikin, Joshua, Powell, Bradford C, Powell, Cynthia M, Puck, Jennifer M, Rehm, Heidi L, Risch, Neil, Roche, Myra, Shieh, Joseph T, Veeraraghavan, Narayanan, Watson, Michael S, Willig, Laurel, Yu, Timothy W, Urv, Tiina, Wise, Anastasia L

المصدر: Pediatrics. 139(2)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Health Services, Clinical Research, Human Genome, Genetics, Biotechnology, Pediatric, 4.2 Evaluation of markers and technologies, 4.1 Discovery and preclinical testing of markers and technologies, 8.3 Policy, ethics, and research governance, Generic health relevance, Good Health and Well Being, Exome, Genetic Carrier Screening, Genetic Research, Genetic Testing, Genome-Wide Association Study, Genomic Structural Variation, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Neonatal Screening, Predictive Value of Tests, Prospective Studies, Public Health, Sequence Analysis, DNA, United States, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics, Biomedical and clinical sciences, Health sciences, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/68b8k0r9
https://escholarship.org/content/qt68b8k0r9/qt68b8k0r9.pdf

المؤلفون: Armstrong, Brittan, Christensen, Kurt D., Genetti, Casie A., Parad, Richard B., Robinson, Jill Oliver, Blout Zawatsky, Carrie L., Zettler, Bethany, Beggs, Alan H., Holm, Ingrid A., Green, Robert C., McGuire, Amy L., Smith, Hadley Stevens, Pereira, Stacey

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2022.867371
https://www.frontiersin.org/articles/10.3389/fgene.2022.867371/full

المؤلفون: Beam, Kristyn S., Lee, Matthew, Hirst, Keith, Beam, Andrew, Parad, Richard B.

المساهمون: U.S. Department of Health & Human Services | Agency for Healthcare Research and Quality, U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute

المصدر: Journal of Perinatology ; volume 41, issue 4, page 764-771 ; ISSN 0743-8346 1476-5543

الاتاحة: http://dx.doi.org/10.1038/s41372-021-00965-3
http://www.nature.com/articles/s41372-021-00965-3.pdf
http://www.nature.com/articles/s41372-021-00965-3

المؤلفون: Lazow, Stefanie P., Tracy, Sarah A., Estroff, Judy A., Parad, Richard B., Castro-Aragon, Ilse M., Fujii, Alan M., Staffa, Steven J., Zurakowski, David, Chen, Catherine

المصدر: Pediatric Surgery International ; volume 38, issue 2, page 225-233 ; ISSN 0179-0358 1437-9813

الاتاحة: http://dx.doi.org/10.1007/s00383-021-05025-7
https://link.springer.com/content/pdf/10.1007/s00383-021-05025-7.pdf
https://link.springer.com/article/10.1007/s00383-021-05025-7/fulltext.html

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

المصدر: Genetics in Medicine ; volume 23, issue 7, page 1372-1375 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01146-5
http://www.nature.com/articles/s41436-021-01146-5.pdf
http://www.nature.com/articles/s41436-021-01146-5
https://api.elsevier.com/content/article/PII:S1098360021050474?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050474?httpAccept=text/plain

المؤلفون: Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

المصدر: Genetics in Medicine ; volume 22, issue 4, page 736-744 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0708-6
http://www.nature.com/articles/s41436-019-0708-6.pdf
http://www.nature.com/articles/s41436-019-0708-6
https://api.elsevier.com/content/article/PII:S1098360021011515?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021011515?httpAccept=text/plain

المؤلفون: Parad, Richard B., Kaler, Stephen G., Mauceli, Evan, Sokolsky, Tanya, Yi, Ling, Bhattacharjee, Arindam

المساهمون: National Institutes of Health Intramural Research, Menkes Foundation, National Institutes of Health

المصدر: Molecular Genetics and Metabolism Reports ; volume 24, page 100625 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2020.100625
https://api.elsevier.com/content/article/PII:S2214426920300719?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426920300719?httpAccept=text/plain

المؤلفون: Milko, Laura V., Chen, Flavia, Chan, Kee, Brower, Amy M., Agrawal, Pankaj B., Beggs, Alan H., Berg, Jonathan S., Brenner, Steven E., Holm, Ingrid A., Koenig, Barbara A., Parad, Richard B., Powell, Cynthia M., Kingsmore, Stephen F.

المساهمون: U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute, U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: npj Genomic Medicine ; volume 4, issue 1 ; ISSN 2056-7944

الاتاحة: http://dx.doi.org/10.1038/s41525-019-0105-8
https://www.nature.com/articles/s41525-019-0105-8.pdf
https://www.nature.com/articles/s41525-019-0105-8

المؤلفون: Afacan, Onur, Estroff, Judy A., Yang, Edward, Barnewolt, Carol E., Connolly, Susan A., Parad, Richard B., Mulkern, Robert V., Warfield, Simon K., Gholipour, Ali

المصدر: Topics in Magnetic Resonance Imaging ; volume 28, issue 5, page 245-254 ; ISSN 0899-3459

الاتاحة: http://dx.doi.org/10.1097/rmr.0000000000000219
https://journals.lww.com/10.1097/RMR.0000000000000219

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

المساهمون: National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 104, issue 1, page 76-93 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2018.11.016
https://api.elsevier.com/content/article/PII:S0002929718304245?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929718304245?httpAccept=text/plain

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

المصدر: Genetics in Medicine ; volume 21, issue 3, page 622-630 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0105-6
http://www.nature.com/articles/s41436-018-0105-6.pdf
http://www.nature.com/articles/s41436-018-0105-6
https://api.elsevier.com/content/article/PII:S1098360021010315?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021010315?httpAccept=text/plain

المؤلفون: Holm, Ingrid A., Agrawal, Pankaj B., Ceyhan-Birsoy, Ozge, Christensen, Kurt D., Fayer, Shawn, Frankel, Leslie A., Genetti, Casie A., Krier, Joel B., LaMay, Rebecca C., Levy, Harvey L., McGuire, Amy L., Parad, Richard B., Park, Peter J., Pereira, Stacey, Rehm, Heidi L., Schwartz, Talia S., Waisbren, Susan E., Yu, Timothy W., Green, Robert C., Beggs, Alan H.

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute

المصدر: BMC Pediatrics ; volume 18, issue 1 ; ISSN 1471-2431

الاتاحة: http://dx.doi.org/10.1186/s12887-018-1200-1
http://link.springer.com/content/pdf/10.1186/s12887-018-1200-1.pdf
http://link.springer.com/article/10.1186/s12887-018-1200-1/fulltext.html

المؤلفون: Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.

المصدر: Genetics in Medicine ; volume 19, issue 7, page 809-818 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2016.193
http://www.nature.com/articles/gim2016193.pdf
http://www.nature.com/articles/gim2016193
https://api.elsevier.com/content/article/PII:S1098360021022334?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021022334?httpAccept=text/plain
http://www.nature.com/doifinder/10.1038/gim.2016.193

المؤلفون: Hale, Jaime E, Parad, Richard B., Dorkin, Henry L., Gerstle, Robert, Lapey, Allen, O'Sullivan, Brian P., Spencer, L. Terry, Yee, William, Comeau, Anne Marie

المساهمون: Department of Pediatrics, New England Newborn Screening Program

المصدر: Journal of inherited metabolic disease ; 33 ; Suppl 2 ; S255-61

مصطلحات موضوعية: Algorithms, Biological Markers, Chlorides, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Mutational Analysis, Genetic Testing, Humans, Immunoassay, Infant, Newborn, Massachusetts, Mutation, Neonatal Screening, Predictive Value of Tests, Primary Health Care, Program Development, Program Evaluation, Quality Indicators, Health Care, Retrospective Studies, Sweat, Trypsinogen, Allergy and Immunology, Digestive System Diseases, Pediatrics, Respiratory Tract Diseases

Relation: Link to Article in PubMed; http://dx.doi.org/10.1007/s10545-010-9117-3; J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S255-61. Epub 2010 Jun 3. Link to article on publisher's site; 0141-8955 (Linking); http://hdl.handle.net/20.500.14038/43833; https://escholarship.umassmed.edu/peds_pulmonary/47; 2441408; peds_pulmonary/47

الاتاحة: https://doi.org/10.1007/s10545-010-9117-3
https://hdl.handle.net/20.500.14038/43833
https://escholarship.umassmed.edu/peds_pulmonary/47

المؤلفون: Comeau, Anne Marie, Parad, Richard B., Dorkin, Henry L., Dovey, Mark, Gerstle, Robert, Haver, Kenan, Lapey, Allen, O'Sullivan, Brian P., Waltz, David A., Zwerdling, Robert G., Eaton, Roger B.

المساهمون: New England Newborn Screening Program, Department of Pediatrics

المصدر: Pediatrics ; 113 ; 6 ; 1573-81

مصطلحات موضوعية: Algorithms, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Mutational Analysis, Feasibility Studies, Female, Genetic Testing, Heterozygote Detection, Humans, Infant, Newborn, Male, Mutation, Neonatal Screening, Sensitivity and Specificity, Trypsinogen, Allergy and Immunology, Pediatrics, Respiratory Tract Diseases

Relation: Link to Article in PubMed; http://pediatrics.aappublications.org/content/113/6/1573.full.pdf+html; Pediatrics. 2004 Jun;113(6):1573-81.; 0031-4005 (Linking); http://hdl.handle.net/20.500.14038/43847; https://escholarship.umassmed.edu/peds_pulmonary/6; 2441366; peds_pulmonary/6

الاتاحة: https://hdl.handle.net/20.500.14038/43847
https://escholarship.umassmed.edu/peds_pulmonary/6

المؤلفون: Parad, Richard B., Comeau, Anne Marie, Dorkin, Henry L., Dovey, Mark, Gerstle, Robert, Martin, Thomas, O'Sullivan, Brian P.

المساهمون: New England Newborn Screening Program, Department of Pediatrics

المصدر: The Journal of pediatrics ; 147 ; 3 Suppl ; S69-72

مصطلحات موضوعية: Age Factors, Algorithms, Chlorides, Cystic Fibrosis, DNA Mutational Analysis, Decision Trees, Early Diagnosis, False Negative Reactions, False Positive Reactions, Follow-Up Studies, Humans, Infant, Newborn, Iontophoresis, Linear Models, Massachusetts, Muscarinic Agonists, Neonatal Screening, Patient Selection, Pilocarpine, Reference Values, Referral and Consultation, Risk Factors, Sweat, Allergy and Immunology, Pediatrics, Respiratory Tract Diseases

Relation: Link to Article in PubMed; http://dx.doi.org/10.1016/j.jpeds.2005.08.015; J Pediatr. 2005 Sep;147(3 Suppl):S69-72. Link to article on publisher's site; 0022-3476 (Linking); http://hdl.handle.net/20.500.14038/43863; https://escholarship.umassmed.edu/peds_pulmonary/9; 2441369; peds_pulmonary/9

الاتاحة: https://doi.org/10.1016/j.jpeds.2005.08.015
https://hdl.handle.net/20.500.14038/43863
https://escholarship.umassmed.edu/peds_pulmonary/9

المؤلفون: Carlson, David, McKeen, Elizabeth, Mitchell, Michael, Torres, Brenda B., Parad, Richard B., Comeau, Anne Marie, O'Sullivan, Brian P.

المساهمون: New England Newborn Screening Program, Department of Pediatrics, Department of Laboratory Medicine

المصدر: Pediatric pulmonology ; 44 ; 5 ; 497-502

مصطلحات موضوعية: Carrier State, Case-Control Studies, Cystic Fibrosis, Gram-Negative Aerobic Rods and Cocci, Gram-Positive Cocci, Humans, Infant, Newborn, Oropharynx, Reference Values, Allergy and Immunology, Pediatrics, Respiratory Tract Diseases

Relation: Link to Article in PubMed; http://dx.doi.org/10.1002/ppul.21029; Pediatr Pulmonol. 2009 May;44(5):497-502. Link to article on publisher's site; 1099-0496 (Linking); http://hdl.handle.net/20.500.14038/43824; https://escholarship.umassmed.edu/peds_pulmonary/38; 2441399; peds_pulmonary/38

الاتاحة: https://doi.org/10.1002/ppul.21029
https://hdl.handle.net/20.500.14038/43824
https://escholarship.umassmed.edu/peds_pulmonary/38