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1. Management of Incidental Findings in Clinical Genomic Sequencing
by Krier, Joel B and Green, Robert C
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2015, Volume 87, pp. 9.23.1 - 9.23.16
Genomic sequencing is becoming accurate, fast, and increasingly inexpensive, and is rapidly being incorporated into clinical practice. Incidental or secondary... 
genomics | incidental findings | exome | secondary findings | whole genome | sequencing | Genetic Variation | Genetics, Medical | Truth Disclosure | Humans | Incidental Findings | High-Throughput Nucleotide Sequencing | Genome, Human | Genomics - methods
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2. 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
There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the... 
GA4GH, IRDiRC | rare disease | Matchmaker Exchange | gene discovery | matchmaking | genomic API | Genomic API | Matchmaking | Gene discovery | Rare disease | GENETICS & HEREDITY | IDENTIFICATION | TOOL | 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 | Mutation | Data bases | BASIC BIOLOGICAL SCIENCES | 60 APPLIED LIFE SCIENCES | IRDiRC | GA4GH
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3. Full Text The Undiagnosed Diseases Network as a Tool for Graduate Medical Education
by Aday, Aaron W and Krier, Joel B and Pallais, J Carl and Fieg, Elizabeth L and MacRae, Calum A and Loscalzo, Joseph and Members of the UDN
The American journal of medicine, ISSN 0002-9343, 07/2019
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4. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B 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 Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian 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, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and... 
RESEARCH PARTICIPANTS | ACMG RECOMMENDATIONS | PERCEIVED UTILITY | BEHAVIORAL ECONOMICS | GENETICS & HEREDITY | WHOLE-EXOME | INCIDENTAL-FINDINGS | MEDSEQ PROJECT | OBTAINING INFORMED-CONSENT | ELECTRONIC HEALTH RECORD | GENETIC RESEARCH FINDINGS | 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
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5. 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 - 10
Background: The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Project" is a randomized trial that... 
Newborn screening | Newborn sequencing | Randomized trial | Whole exome sequencing | Ethical, legal, social implications | Methods | CLINICIAN INTERFACE | VARIANTS | KNOWLEDGE | social implications | MEDICINE | CHILDREN | DISEASES | Ethical | legal | PEDIATRICS | HEALTH | 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
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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
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value. Objective: To... 
EXOME | RISKS | MEDICINE, GENERAL & INTERNAL | VARIANTS | AMERICAN-COLLEGE | MEDICAL GENETICS | PARTICIPANTS | KEY | Young adults | Primary health care | Analysis | Models | Nucleotide sequencing | Health aspects | DNA sequencing
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7. 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
Purpose: Clinical sequencing emerging in health care may result in secondary findings (SFs). Methods: Seventy-four of 6240 (1.2%) participants who underwent... 
genomic sequencing | health-care resource utilization | secondary findings | INCIDENTAL FINDINGS | EXOME | DESIGN | VARIANTS | RECOMMENDATIONS | GENETICS & HEREDITY | AMERICAN-COLLEGE | MEDICAL GENETICS | RANDOMIZED CONTROLLED-TRIAL
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8. 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
Purpose: Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively... 
Newborn screening | Newborn | Parental concerns | Genomic sequencing | Consent for genomic testing | RISKS | CARE | CLINICAL-RESEARCH | TRIAL | INFORMED-CONSENT | INFANTS | GENETICS & HEREDITY | OUTCOMES | Parental Concerns | Genomic Sequencing | Consent for Genomic Testing | Newborn Screening
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9. Management of incidental findings in clinical genomic sequencing
by Krier, Joel B and Green, Robert C
Current Protocols in Human Genetics, ISSN 1934-8266, 2013, Volume Chapter 9, Issue 77, p. Unit9.23
Genomic sequencing is becoming accurate, fast, and inexpensive, and is rapidly being incorporated into clinical practice. Incidental findings, which result in... 
Exome | Whole genome | Sequencing | Genomics | Incidental findings | Genetic Variation | Incidental Findings | High-Throughput Nucleotide Sequencing | Genome, Human | Humans
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10. Full Text Genomic sequencing in clinical practice: Applications, challenges, and opportunities
by Krier, Joel B and Kalia, Sarah S and Green, Robert C
Dialogues in Clinical Neuroscience, ISSN 1294-8322, 2016, Volume 18, Issue 3, pp. 299 - 312
The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical... 
Medical genomics | Genome sequencing | Genomic sequencing | Clinical genomics | Exome sequencing | EXOME | clinical genomics | COST-EFFECTIVENESS | CONSUMER PERCEPTIONS | MEDICINE | NEUROSCIENCES | GENETIC RISK-ASSESSMENT | INCIDENTAL FINDINGS | exome sequencing | ECONOMIC-EVALUATION | SYSTEMATIC-APPROACH | DISEASE | genomic sequencing | PERSONAL GENOMES | genome sequencing | medical genomics | High-Throughput Nucleotide Sequencing | Genetic Testing | Genomics | Humans | Clinical Research
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11. Full Text A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
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12. 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 : official journal of the American College of Medical Genetics, ISSN 1098-3600, 01/2019, Volume 21, Issue 5, pp. 1261 - 1262
The originally published version of this Article contained errors in Fig. 2. The numbers below the black arrowheads were incorrect; please see incorrect Figure... 
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13. Full Text Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
by Ceyhan-Birsoy, Ozge and Murry, Jaclyn B and Machini, Kalotina and Lebo, Matthew S and Yu, Timothy W and Fayer, Shawn and Genetti, Casie A and Schwartz, Talia S and Agrawal, Pankaj B and Parad, Richard B and Holm, Ingrid A and McGuire, Amy L and Green, Robert C and Rehm, Heidi L and Beggs, Alan H and Betting, Wendi N and Christensen, Kurt D and Dukhovny, Dmitry and Frankel, Leslie A and Graham, Chet and Guiterrez, Amanda M and Harden, Maegan and Krier, Joel B and Levy, Harvey L and Lu, Xingquan and Naik, Medha and Nguyen, Tiffany T and Peoples, Hayley A and Pereira, Stacey and Petersen, Devan and Ramamurthy, Uma and Ramanathan, Vivek and Roberts, Amy and Robinson, Jill O and Roumiantsev, Serguei and Truong, Tina K and VanNoy, Grace E and Waisbren, Susan E and BabySeq Project Team
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 76 - 93
Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS)... 
genomic sequencing | newborn | newborn sequencing | whole-exome sequencing | newborn screening | INCIDENTAL FINDINGS | HEART-DISEASE | HYPERTROPHIC CARDIOMYOPATHY | SYSTEMATIC-APPROACH | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | ASSOCIATION TASK-FORCE | CONGENITAL ADRENAL-HYPERPLASIA | SECONDARY FINDINGS | MOLECULAR FINDINGS | 2011 ACCF/AHA GUIDELINE | Infants (Newborn) | Usage | Genetic aspects | Research | Nucleotide sequencing | Children | Diagnosis | Health aspects | DNA sequencing | Diseases
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