Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013

de la Chapelle, A.

Beighton, P., & Beighton, G. (1997) · The Person Behind the Syndrome · doi:10.1007/978-1-4471-0925-9_118 · Cited by 3,159

Genomewide Association Studies and Assessment of the Risk of Disease

Manolio, T. A. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0905980 · Cited by 1,512

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001756 · Cited by 706

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group

Teutsch, S. M., Bradley, L. A., Palomaki, G. E., Haddow, J. E., Piper, M., Calonge, N., Dotson, W. D., Douglas, M. P., & Berg, A. O. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e318184137c · Cited by 680

Clinical assessment incorporating a personal genome

Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., Dudley, J. T., Ormond, K. E., Pavlovic, A., Morgan, A. A., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60452-7 · Cited by 674

Recommendations for the Care of Individuals With an Inherited Predisposition to Lynch Syndrome: A Systematic Review

Lindor, N. M., Petersen, G. M., Hadley, D. W., Kinney, A. Y., Miesfeldt, S., Lu, K. H., Lynch, P., Burke, W., & Press, N. (2006) · JAMA · doi:10.1001/jama.296.12.1507 · Cited by 629

Genomics and Drug Response

Wang, L., McLeod, H. L., & Weinshilboum, R. M. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010600 · Cited by 613

Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk

Bloss, C. S., Schork, N. J., & Topol, E. J. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1011893 · Cited by 562

Incidental findings in imaging diagnostic tests: a systematic review

Lumbreras, B., Donat, L., & Hernández-Aguado, I. (2010) · The British Journal of Radiology · doi:10.1259/bjr/98067945 · Cited by 370

An agenda for personalized medicine

Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009) · Nature · doi:10.1038/461724a · Cited by 330

Genome-based prediction of common diseases: advances and prospects

Janssens, A. C. J. W., & van Duijn, C. M. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn250 · Cited by 314

The Incidentalome: A Threat to Genomic Medicine

Kohane, I. S., Masys, D. R., & Altman, R. B. (2006) · JAMA · doi:10.1001/jama.296.2.212 · Cited by 307

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

Mvundura, M., Grosse, S. D., Hampel, H., & Palomaki, G. E. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181cd666c · Cited by 292

A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions

Janssens, A. C. J. W., Gwinn, M., Bradley, L. A., Oostra, B. A., van Duijn, C. M., & Khoury, M. J. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.020 · Cited by 278

ASCO/SSO Review of Current Role of Risk-Reducing Surgery in Common Hereditary Cancer Syndromes

Guillem, J. G., Wood, W. C., Moley, J. F., Berchuck, A., Karlan, B. Y., Mutch, D. G., Gagel, R. F., Weitzel, J., Morrow, M., Weber, B. L., et al. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.04.5260 · Cited by 245

Pharmacogenetics and Pharmacogenomics: Development, Science, and Translation

Weinshilboum, R. M., & Wang, L. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162315 · Cited by 231

Challenges in the clinical application of whole-genome sequencing

Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., Altman, R. B., Ashley, E. A., & Greely, H. T. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60599-5 · Cited by 231

The Incidence of Lynch Syndrome

de la Chapelle, A. (2005) · Familial Cancer · doi:10.1007/s10689-004-5811-3 · Cited by 187

Evaluating the utility of personal genomic information

Foster, M. W., Mulvihill, J. J., & Sharp, R. R. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181a2743e · Cited by 180

Challenges of sequencing human genomes

Koboldt, D. C., Ding, L., Mardis, E. R., & Wilson, R. K. (2010) · Briefings in Bioinformatics · doi:10.1093/bib/bbq016 · Cited by 160

Invited Commentary: From Genome-Wide Association Studies to Gene-Environment-Wide Interaction Studies--Challenges and Opportunities

Khoury, M. J., & Wacholder, S. (2008) · American Journal of Epidemiology · doi:10.1093/aje/kwn351 · Cited by 147

Personalized genomic information: preparing for the future of genetic medicine

Guttmacher, A. E., McGuire, A. L., Ponder, B. A. J., & Stefánsson, K. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2735 · Cited by 125

Gene‐environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop

Bookman, E., McAllister, K. A., Gillanders, E. M., Wanke, K. L., Balshaw, D. M., Rutter, J. L., Reedy, J., Shaughnessy, D. P., Agurs‐Collins, T., Paltoo, D. N., et al. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20571 · Cited by 120

A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice

Veenstra, D. L., Roth, J. A., Garrison, L. P., Ramsey, S. D., & Burke, W. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181eff533 · Cited by 86

A timely arrival for genomic medicine

Mayer, A. N., Dimmock, D., Arca, M. J., Bick, D. P., Verbsky, J. W., Worthey, E. A., Jacob, H. J., & Margolis, D. A. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3182095089 · Cited by 82

Acute Mesenteric Infarction Associated with Atrial Fibrillation

Wang, J., & Chang, S. (2011) · New England Journal of Medicine · doi:10.1056/nejmicm1001885 · Cited by 77

Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data

Ali‐Khan, S. E., Daar, A. S., Shuman, C. T., Ray, P. N., & Scherer, S. W. (2009) · Pediatric Research · doi:10.1203/pdr.0b013e3181b0cbd8 · Cited by 69

Evidence-based classification of recommendations on use of genomic tests in clinical practice: Dealing with insufficient evidence

Khoury, M. J., Coates, R. J., & Evans, J. P. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f9ad55 · Cited by 69

Committee Report: Advancing the current recommended panel of conditions for newborn screening

Green, N., Rinaldo, P., Brower, A., Boyle, C. A., Dougherty, D. M., Lloyd-Puryear, M. A., Mann, M. Y., & Howell, R. R. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e318159a38e · Cited by 33

Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

Howell, R. R. (2006) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20126 · Cited by 25

Invited Commentary: Efficient Testing of Gene-Environment Interaction

Chatterjee, N., & Wacholder, S. (2008) · American Journal of Epidemiology · doi:10.1093/aje/kwn352 · Cited by 18

When Is a Genetic Test Suitable for Prime Time? Predicting the Risk of Prostate Cancer as a Case-Example

Li‐Wan‐Po, A., Farndon, P. A., Cooley, C., & Lithgow, J. K. (2009) · Public Health Genomics · doi:10.1159/000218710 · Cited by 9

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,541

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546

Genome sequencing identifies major causes of severe intellectual disability

Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Wright, C. F., Fitzgerald, T. W., Jones, W. D., Clayton, S., McRae, J. F., van Kogelenberg, M., King, D. A., Ambridge, K., Barrett, D. M., Bayzetinova, T., et al. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61705-0 · Cited by 743

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

Gottesman, O., Kuivaniemi, H., Tromp, G., Faucett, W. A., Li, R., Manolio, T. A., Sanderson, S. C., Kannry, J., Zinberg, R., Basford, M. A., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.72 · Cited by 698