Brenda J Wilson, Fiona Alice Miller, François Rousseau. J Clin Epidemiol 2017
Times Cited: 13
Times Cited: 13
Times Cited
Times Co-cited
Similarity
Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.
. Genet Med 2015
. Genet Med 2015
15
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
15
Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research.
Kathryn A Phillips, Patricia A Deverka, Harold C Sox, Muin J Khoury, Lewis G Sandy, Geoffrey S Ginsburg, Sean R Tunis, Lori A Orlando, Michael P Douglas. Genet Med 2017
Kathryn A Phillips, Patricia A Deverka, Harold C Sox, Muin J Khoury, Lewis G Sandy, Geoffrey S Ginsburg, Sean R Tunis, Lori A Orlando, Michael P Douglas. Genet Med 2017
15
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Samuel P Strom, Hane Lee, Kingshuk Das, Eric Vilain, Stanley F Nelson, Wayne W Grody, Joshua L Deignan. Genet Med 2014
Samuel P Strom, Hane Lee, Kingshuk Das, Eric Vilain, Stanley F Nelson, Wayne W Grody, Joshua L Deignan. Genet Med 2014
15
Personal utility in genomic testing: is there such a thing?
Eline M Bunnik, A Cecile J W Janssens, Maartje H N Schermer. J Med Ethics 2015
Eline M Bunnik, A Cecile J W Janssens, Maartje H N Schermer. J Med Ethics 2015
15
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff. Genet Med 2017
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff. Genet Med 2017
15
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez,[...]. Genet Med 2018
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez,[...]. Genet Med 2018
15
Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.
Tyler F Beck, James C Mullikin, Leslie G Biesecker. Clin Chem 2016
Tyler F Beck, James C Mullikin, Leslie G Biesecker. Clin Chem 2016
15
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed,[...]. JAMA Pediatr 2017
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed,[...]. JAMA Pediatr 2017
15
Defining personal utility in genomics: A Delphi study.
J N Kohler, E Turbitt, K L Lewis, B S Wilfond, L Jamal, H L Peay, L G Biesecker, B B Biesecker. Clin Genet 2017
J N Kohler, E Turbitt, K L Lewis, B S Wilfond, L Jamal, H L Peay, L G Biesecker, B B Biesecker. Clin Genet 2017
15
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
15
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, Ozge Ceyhan-Birsoy, Marina DiStefano, Selina S Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A Seifert, Tam P Sneddon,[...]. Am J Hum Genet 2017
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, Ozge Ceyhan-Birsoy, Marina DiStefano, Selina S Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A Seifert, Tam P Sneddon,[...]. Am J Hum Genet 2017
15
Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
15
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
15
Health Technology Assessment for Molecular Diagnostics: Practices, Challenges, and Recommendations from the Medical Devices and Diagnostics Special Interest Group.
Susan Garfield, Julie Polisena, Daryl S Spinner, Anne Postulka, Christine Y Lu, Simrandeep K Tiwana, Eric Faulkner, Nick Poulios, Vladimir Zah, Michael Longacre. Value Health 2016
Susan Garfield, Julie Polisena, Daryl S Spinner, Anne Postulka, Christine Y Lu, Simrandeep K Tiwana, Eric Faulkner, Nick Poulios, Vladimir Zah, Michael Longacre. Value Health 2016
15
Precision Medicine: From Science To Value.
Geoffrey S Ginsburg, Kathryn A Phillips. Health Aff (Millwood) 2018
Geoffrey S Ginsburg, Kathryn A Phillips. Health Aff (Millwood) 2018
15
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner,[...]. Genet Med 2017
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner,[...]. Genet Med 2017
7
Rapid whole genome sequencing and precision neonatology.
Joshua E Petrikin, Laurel K Willig, Laurie D Smith, Stephen F Kingsmore. Semin Perinatol 2015
Joshua E Petrikin, Laurel K Willig, Laurie D Smith, Stephen F Kingsmore. Semin Perinatol 2015
7
Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
7
HALYS and QALYS and DALYS, Oh My: similarities and differences in summary measures of population Health.
Marthe R Gold, David Stevenson, Dennis G Fryback. Annu Rev Public Health 2002
Marthe R Gold, David Stevenson, Dennis G Fryback. Annu Rev Public Health 2002
7
Translating personalized genomic medicine into clinical practice: evidence, values, and health policy.
Yvonne Bombard. Genome 2015
Yvonne Bombard. Genome 2015
14
7
Potential Psychosocial Risks of Sequencing Newborns.
Leslie Ann Frankel, Stacey Pereira, Amy L McGuire. Pediatrics 2016
Leslie Ann Frankel, Stacey Pereira, Amy L McGuire. Pediatrics 2016
7
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Robin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, M Stephen Meyn, Nasim Monfared, Sarah Bowdin, D James Stavropoulos, Christian R Marshall, Raveen Basran, Cheryl Shuman,[...]. Eur J Hum Genet 2017
Robin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, M Stephen Meyn, Nasim Monfared, Sarah Bowdin, D James Stavropoulos, Christian R Marshall, Raveen Basran, Cheryl Shuman,[...]. Eur J Hum Genet 2017
7
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White. Genet Med 2019
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White. Genet Med 2019
7
Current evidence-based recommendations on investigating children with global developmental delay.
Renuka Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone. Arch Dis Child 2017
Renuka Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone. Arch Dis Child 2017
7
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, H E Shamseldin, N Patel, M Hashem, N Ibrahim, F Abdulwahab,[...]. Mol Psychiatry 2017
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, H E Shamseldin, N Patel, M Hashem, N Ibrahim, F Abdulwahab,[...]. Mol Psychiatry 2017
7
QALYs in cost-effectiveness analysis: an overview for cardiologists.
Olivier J Wouters, Huseyin Naci, Nilesh J Samani. Heart 2015
Olivier J Wouters, Huseyin Naci, Nilesh J Samani. Heart 2015
7
Genomic intensive care: should we perform genome testing in critically ill newborns?
Dominic J C Wilkinson, Christopher Barnett, Julian Savulescu, Ainsley J Newson. Arch Dis Child Fetal Neonatal Ed 2016
Dominic J C Wilkinson, Christopher Barnett, Julian Savulescu, Ainsley J Newson. Arch Dis Child Fetal Neonatal Ed 2016
7
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
Kate L Del Bel, Robert J Ragotte, Aabida Saferali, Susan Lee, Suzanne M Vercauteren, Sara A Mostafavi, Richard A Schreiber, Julie S Prendiville, Min S Phang, Jessica Halparin,[...]. J Allergy Clin Immunol 2017
Kate L Del Bel, Robert J Ragotte, Aabida Saferali, Susan Lee, Suzanne M Vercauteren, Sara A Mostafavi, Richard A Schreiber, Julie S Prendiville, Min S Phang, Jessica Halparin,[...]. J Allergy Clin Immunol 2017
7
Emergency medical genomes: a breakthrough application of precision medicine.
Stephen F Kingsmore, Josh Petrikin, Laurel K Willig, Erin Guest. Genome Med 2015
Stephen F Kingsmore, Josh Petrikin, Laurel K Willig, Erin Guest. Genome Med 2015
7
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Konstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, Dusica Babovic-Vuksanovic, Douglas L Riegert-Johnson, Ralitza H Gavrilova, Tammy M McAllister, Noralane M Lindor, Roshini S Abraham, Michael J Ackerman,[...]. Mayo Clin Proc 2016
Konstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, Dusica Babovic-Vuksanovic, Douglas L Riegert-Johnson, Ralitza H Gavrilova, Tammy M McAllister, Noralane M Lindor, Roshini S Abraham, Michael J Ackerman,[...]. Mayo Clin Proc 2016
7
Diagnostic clinical genome and exome sequencing.
Leslie G Biesecker, Robert C Green. N Engl J Med 2014
Leslie G Biesecker, Robert C Green. N Engl J Med 2014
7
A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
7
7
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K C Yuen, Michael J Szego,[...]. NPJ Genom Med 2016
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K C Yuen, Michael J Szego,[...]. NPJ Genom Med 2016
7
The Actionability of Exome sequencing testing results.
Tanya Stivers, Stefan Timmermans. Sociol Health Illn 2017
Tanya Stivers, Stefan Timmermans. Sociol Health Illn 2017
7
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018
7
7
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
7
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu,[...]. JAMA Pediatr 2017
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu,[...]. JAMA Pediatr 2017
7
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
7
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
T B Balci, T Hartley, Y Xi, D A Dyment, C L Beaulieu, F P Bernier, L Dupuis, G A Horvath, R Mendoza-Londono, C Prasad,[...]. Clin Genet 2017
T B Balci, T Hartley, Y Xi, D A Dyment, C L Beaulieu, F P Bernier, L Dupuis, G A Horvath, R Mendoza-Londono, C Prasad,[...]. Clin Genet 2017
7
Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges.
Michael J Deem. Pediatrics 2016
Michael J Deem. Pediatrics 2016
7
7
Recommendations for Conduct, Methodological Practices, and Reporting of Cost-effectiveness Analyses: Second Panel on Cost-Effectiveness in Health and Medicine.
Gillian D Sanders, Peter J Neumann, Anirban Basu, Dan W Brock, David Feeny, Murray Krahn, Karen M Kuntz, David O Meltzer, Douglas K Owens, Lisa A Prosser,[...]. JAMA 2016
Gillian D Sanders, Peter J Neumann, Anirban Basu, Dan W Brock, David Feeny, Murray Krahn, Karen M Kuntz, David O Meltzer, Douglas K Owens, Lisa A Prosser,[...]. JAMA 2016
7
Analytical validation of whole exome and whole genome sequencing for clinical applications.
Michael D Linderman, Tracy Brandt, Lisa Edelmann, Omar Jabado, Yumi Kasai, Ruth Kornreich, Milind Mahajan, Hardik Shah, Andrew Kasarskis, Eric E Schadt. BMC Med Genomics 2014
Michael D Linderman, Tracy Brandt, Lisa Edelmann, Omar Jabado, Yumi Kasai, Ruth Kornreich, Milind Mahajan, Hardik Shah, Andrew Kasarskis, Eric E Schadt. BMC Med Genomics 2014
7
Deep sequencing of 10,000 human genomes.
Amalio Telenti, Levi C T Pierce, William H Biggs, Julia di Iulio, Emily H M Wong, Martin M Fabani, Ewen F Kirkness, Ahmed Moustafa, Naisha Shah, Chao Xie,[...]. Proc Natl Acad Sci U S A 2016
Amalio Telenti, Levi C T Pierce, William H Biggs, Julia di Iulio, Emily H M Wong, Martin M Fabani, Ewen F Kirkness, Ahmed Moustafa, Naisha Shah, Chao Xie,[...]. Proc Natl Acad Sci U S A 2016
7
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Glen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, Tamar I de Vries, Karen J Duran, Jasper J van der Smagt, Paulien A Terhal, Peter M van Hasselt, Hester Y Kroes, Nanda M Verhoeven-Duif,[...]. Genet Med 2016
Glen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, Tamar I de Vries, Karen J Duran, Jasper J van der Smagt, Paulien A Terhal, Peter M van Hasselt, Hester Y Kroes, Nanda M Verhoeven-Duif,[...]. Genet Med 2016
7
Extensive sequencing of seven human genomes to characterize benchmark reference materials.
Justin M Zook, David Catoe, Jennifer McDaniel, Lindsay Vang, Noah Spies, Arend Sidow, Ziming Weng, Yuling Liu, Christopher E Mason, Noah Alexander,[...]. Sci Data 2016
Justin M Zook, David Catoe, Jennifer McDaniel, Lindsay Vang, Noah Spies, Arend Sidow, Ziming Weng, Yuling Liu, Christopher E Mason, Noah Alexander,[...]. Sci Data 2016
7
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.