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1. Full Text The BabySeq project: Implementing genomic sequencing in newborns
by Holm, Ingrid A and Agrawal, Pankaj B and Ceyhan-Birsoy, Ozge and Christensen, Kurt D and Fayer, Shawn and Frankel, Leslie A and Genetti, Casie A and Krier, Joel B and LaMay, Rebecca C and Levy, Harvey L and McGuire, Amy L and Parad, Richard B and Park, Peter J and Pereira, Stacey and Rehm, Heidi L and Schwartz, Talia S and Waisbren, Susan E and Yu, Timothy W and Green, Robert C and Beggs, Alan H and BabySeq Project Team and The BabySeq Project Team
BMC pediatrics, ISSN 1471-2431, 07/2018, Volume 18, Issue 1, pp. 225 - 225
Newborn screening | Newborn sequencing | Randomized trial | Whole exome sequencing | Ethical, legal, social implications | Methods | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Infants (Newborn) | Usage | Analysis | Clinical trials | Genetic aspects | Nucleotide sequencing | Health aspects | DNA sequencing | Medicine | Health care | Early intervention | Ethics | Genomics | Families & family life | Genetics | Genomes | Family medical history | FDA approval | Medical screening | Index Medicus
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2. Full Text Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
by Hart, M. Ragan and Biesecker, Barbara B and Blout, Carrie L and Christensen, Kurt D and Amendola, Laura M and Bergstrom, Katie L and Biswas, Sawona and Bowling, Kevin M and Brothers, Kyle B and Conlin, Laura K and Cooper, Greg M and Dulik, Matthew C and East, Kelly M and Everett, Jessica N and Finnila, Candice R and Ghazani, Arezou A and Gilmore, Marian J and Goddard, Katrina A. B and Jarvik, Gail P and Johnston, Jennifer J and Kauffman, Tia L and Kelley, Whitley V and Krier, Joel B and Lewis, Katie L and McGuire, Amy L and McMullen, Carmit and Ou, Jeffrey and Plon, Sharon E and Rehm, Heidi L and Richards, C. Sue and Romasko, Edward J and Miren Sagardia, Ane and Spinner, Nancy B and Thompson, Michelle L and Turbitt, Erin and Vassy, Jason L and Wilfond, Benjamin S and Veenstra, David L and Berg, Jonathan S and Green, Robert C and Biesecker, Leslie G and Hindorff, Lucia A
Genetics in medicine, ISSN 1098-3600, 05/2019, Volume 21, Issue 5, pp. 1100 - 1110
genomic sequencing | health-care resource utilization | secondary findings | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prevalence | Genetic Testing - standards | Humans | Incidental Findings | Male | Genetic Testing - ethics | Disclosure | Health Knowledge, Attitudes, Practice | Patients | High-Throughput Nucleotide Sequencing - ethics | Exome | Health Care Costs | Decision Making - ethics | Health Personnel | Adult | Female | Intention | Whole Genome Sequencing - economics | Genetic Testing - economics | Genomics - methods | Whole Genome Sequencing - ethics | Consortia | Index Medicus
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3. Full Text The Matchmaker Exchange: a platform for rare disease gene discovery
by Philippakis, A.A and Azzariti, D.R and Beltran, S and Brookes, A.J and Brownstein, C.A and Brudno, M and Brunner, H.G and Buske, O.J and Carey, K and Doll, C and Dumitriu, S and Dyke, S.O.M and Dunnen, J.T. den and Firth, H.V and Gibbs, R.A and Girdea, M and Gonzalez, M and Haendel, M.A and Hamosh, A and Holm, I.A and Huang, L and Hurles, M.E and Hutton, B and Krier, J.B and Misyura, A and Mungall, C.J and Paschall, J and Paten, B and Robinson, P.N and Schiettecatte, F and Sobreira, N.L and Swaminathan, G.J and Taschner, P.E.M and Terry, S.F and Washington, N.L and Zuchner, S and Boycott, K.M and Rehm, H.L and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 10, pp. 915 - 921
GA4GH, IRDiRC | rare disease | Matchmaker Exchange | gene discovery | matchmaking | genomic API | Genomic API | Matchmaking | Gene discovery | Rare disease | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Database Management Systems | Humans | Information Dissemination - methods | Databases, Genetic | Software | Boycotts | Children's hospitals | Genes | Genomics | Application programming interface | Genetic disorders | Databases | Mutation | Index Medicus | BASIC BIOLOGICAL SCIENCES | 60 APPLIED LIFE SCIENCES | IRDiRC | GA4GH
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4. Full Text Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project
by Genetti, Casie A and Schwartz, Talia S and Robinson, Jill O and VanNoy, Grace E and Petersen, Devan and Pereira, Stacey and Fayer, Shawn and Peoples, Hayley A and Agrawal, Pankaj B and Betting, Wendi N and Holm, Ingrid A and McGuire, Amy L and Waisbren, Susan E and Yu, Timothy W and Green, Robert C and Beggs, Alan H and Parad, Richard B and Agrawal, Pankaj B and Beggs, Alan H and Betting, Wendi N and Ceyhan-Birsoy, Ozge and Christensen, Kurt D and Dukhovny, Dmitry and Fayer, Shawn and Frankel, Leslie A and Genetti, Casie A and Graham, Chet and Green, Robert C and Gutierrez, Amanda M and Harden, Maegan and Holm, Ingrid A and Krier, Joel B and Lebo, Matthew S and Levy, Harvey L and Lu, Xingquan and Machini, Kalotina and McGuire, Amy L and Murry, Jaclyn B and Naik, Medha and Nguyen, Tiffany T and Parad, Richard B and Peoples, Hayley A and Pereira, Stacey and Petersen, Devan and Ramamurthy, Uma and Ramanathan, Vivek and Rehm, Heidi L and Roberts, Amy and Robinson, Jill O and Roumiantsev, Serguei and Schwartz, Talia S and Truong, Tina K and VanNoy, Grace E and Waisbren, Susan E and Yu, Timothy W and BabySeq Project Team and BabySeq Project Team and The BabySeq Project Team
Genetics in medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 622 - 630
Newborn screening | Newborn | Parental concerns | Genomic sequencing | Consent for genomic testing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Attitude to Health | Humans | Neonatal Screening - ethics | Neonatal Screening - psychology | Male | Genetic Testing - ethics | Neonatal Screening - methods | Genetic Testing - methods | Sequence Analysis, DNA | Informed Consent | Parents - psychology | Neonatal Screening - trends | Adult | Female | Genetic Testing - trends | Infant, Newborn | Patient Selection - ethics | Medical screening | Pediatrics | Index Medicus | Parental Concerns | Genomic Sequencing | Consent for Genomic Testing | Newborn Screening
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5. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Appelbaum, Paul S and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Caga-anan, Charlisse F and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Chinnaiyan, Arul M and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and ... and the CSER Consortium and CSER Consortium
American journal of human genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Evidence-Based Practice | United States | Humans | Clinical Trials as Topic | Cardiovascular Diseases - genetics | Exome - genetics | National Human Genome Research Institute (U.S.) | Polymorphism, Single Nucleotide - genetics | Adult | Biomedical Research | Population Groups | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Child | Genetic research | Nucleotide sequencing | Methods | DNA sequencing | Medical diagnosis | Electronic health records | Genomics | Genes | Children & youth | Index Medicus
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6. Full Text The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: A pilot randomized trial
by Vassy, Jason L and Christensen, Kurt D and Schonman, Erica F and Blout, Carrie L and Robinson, Jill O and Krier, Joel B and Diamond, Pamela M and Lebo, Matthew and Machini, Kalotina and Azzariti, Danielle R and Dukhovny, Dmitry and Bates, David W and MacRae, Calum A and Murray, Michael F and Rehm, Heidi L and McGuire, Amy L and Green, Robert C and Cirino, Allison L and Ho, Carolyn Y and Lane, William J and Lehmann, Lisa S and Morton, Cynthia C and Perry, Denise L and Seidman, Christine E and Sunyaev, Shamil R and Nguyen, Tiffany and Steffens, Eleanor and Betting, Wendi Nicole and Aronson, Samuel J and Ceyhan-Birsoy, Ozge and Lebo, Matthew S and McLaughlin, Heather M and Tsai, Ellen A and Blumenthal-Barby, Jennifer and Feuerman, Lindsay Z and Lee, Kaitlyn and Slashinski, Melody J and Davis, Kelly and Ubel, Peter A and Kraft, Peter and Roberts, J. Scott and Garber, Judy E and Hambuch, Tina and Kohane, Isaac and Kong, Sek Won and MedSeq Project and for the MedSeq Project
Annals of internal medicine, ISSN 0003-4819, 08/2017, Volume 167, Issue 3, pp. 159 - 169
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Young adults | Primary health care | Analysis | Models | Nucleotide sequencing | Health aspects | DNA sequencing | Health care | Genomes | Disease | Primary care | Evidence-based medicine | Health behavior | Index Medicus | Abridged Index Medicus
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7. Full Text Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
by Hart, M Ragan and Biesecker, Barbara B and Blout, Carrie L and Christensen, Kurt D and Amendola, Laura M and Bergstrom, Katie L and Biswas, Sawona and Bowling, Kevin M and Brothers, Kyle B and Conlin, Laura K and Cooper, Greg M and Dulik, Matthew C and East, Kelly M and Everett, Jessica N and Finnila, Candice R and Ghazani, Arezou A and Gilmore, Marian J and Goddard, Katrina A B and Jarvik, Gail P and Johnston, Jennifer J and Kauffman, Tia L and Kelley, Whitley V and Krier, Joel B and Lewis, Katie L and McGuire, Amy L and McMullen, Carmit and Ou, Jeffrey and Plon, Sharon E and Rehm, Heidi L and Richards, C Sue and Romasko, Edward J and Sagardia, Ane Miren and Spinner, Nancy B and Thompson, Michelle L and Turbitt, Erin and Vassy, Jason L and Wilfond, Benjamin S and Veenstra, David L and Berg, Jonathan S and Green, Robert C and Biesecker, Leslie G and Hindorff, Lucia A
Genetics in medicine, ISSN 1098-3600, 05/2019, Volume 21, Issue 5, pp. 1261 - 1262
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8. Full Text A retrospective study of adult patients with noncirrhotic hyperammonemia
by Stergachis, Andrew B and Mogensen, Kris M and Khoury, Charbel C and Lin, Alexander P and Peake, Roy WA and Baker, Joshua J and Barkoudah, Ebrahim and Sahai, Inderneel and Sweetser, David A and Berry, Gerard T and Krier, Joel B
Journal of inherited metabolic disease, ISSN 0141-8955, 11/2020, Volume 43, Issue 6, pp. 1165 - 1172
Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Inborn errors of metabolism | Hyperammonemia | Urease | Metabolism | Patients | Morbidity | Risk factors | Genetic screening | Urea | Ammonia | Antibiotics | Etiology | Malnutrition | Seizures | Index Medicus
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9. Full Text Noncirrhotic hyperammonemia after deceased donor kidney transplantation: A case report
by Li, George Z and Tio, Maria C and Pak, Linda M and Krier, Joel and Seifter, Julian L and Tullius, Stefan G and Riella, Leonardo V and Malek, Sayeed K and Stergachis, Andrew B
American journal of transplantation, ISSN 1600-6135, 11/2019, Volume 19, Issue 11, pp. 3197 - 3201
genetics | infectious disease | metabolism/metabolite | clinical research/practice | kidney transplantation/nephrology | infection and infectious agents ‐ bacterial | kidney disease | encephalopathy | Transplantation | Life Sciences & Biomedicine | Surgery | Science & Technology | Ammonia | Urinary tract infections | Kidneys | Chronic kidney failure | Communicable diseases | Urea | Renal function | Antibiotics | Hyperammonemia | Urinary tract | Kidney diseases | Patients | Morbidity | Kidney transplantation | Index Medicus
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