Recent publications
PubMed Publications- Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter September 24, 2024
- Implementation of a dyadic nomenclature for monogenic diseases September 6, 2024
- Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group July 21, 2024
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Clinical Genomics
| Title | Authors | Year | Journal | Volume: Pages | PMID |
|---|---|---|---|---|---|
| Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time | Berg JS, Khoury MJ, Evans JP | 2011 | Genet Med | 13(6): 499-504 | 21558861 |
| An informatics approach to analyzing the incidentalome | Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP | 2013 | Genet Med | 15(1): 36-44 | 22995991 |
| Comprehensive molecular portraits of human breast tumours | Cancer Genome Atlas Network | 2012 | Nature | 490(7418): 61-70 | 23000897 |
| Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge | Evans JP, Berg JS | 2011 | JAMA | 306(21): 2376-7 | 22147382 |
| A Genetic Counselor’s Guide to Using Next-Generation Sequencing in Clinical Practice |
Facio FM, Lee K, O’Daniel JM | 2014 | J Genet Counsel | 23(4): 455-62 | 24151055 |
| The NCGENES Project: Exploring the New World of Genome Sequencing |
Foreman AKM, Lee K, Evans JP | 2013 | NC Med J | 74(6): 500-4 | 24316776 |
| Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies | Goddard KA, Whitlock EP, Berg JS, Williams MS, Webber EM, Webster JA, Lin JS, Schrader KA, Campos-Outcalt D, Offit K, Feigelson HS, Hollombe C | 2013 | Genet Med | 15(9): 721-8 | 23558254 |
| Exploring concordance and discordance for return of incidental findings from clinical sequencing | Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ | 2012 | Genet Med | 14(4): 405-10 | 22422049 |
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG | 2013 | Genet Med | 15(7): 565-74 | 23788249 |
| Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia | Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium | 2013 | Am J Hum Genet | 92(1): 99-106 | 23261302 |
|
High Diagnostic Yield of Whole Exome Sequencing in Participants with Retinal Dystrophies in a Clinical Ophthalmology Setting. |
Lee K, Berg JS, Milko L, Crooks K, Lu M, Bizon C, Owen P, Wilhelmsen KC, Weck KE, Evans JP, Garg S | 2015 | Am J Opthalmol | Epub ahead of print | 25910913 |
|
Navigating the current landscape of clinical genetic testing |
Lee K, Garg S | 2015 | Genet Med | 17(4): 245-252 | 25790163 |
|
Whole-Genome and Whole-Exome Sequencing in Hereditary Cancer: Impact on Genetic Testing and Counseling |
O’Daniel JM, Lee K | 2012 | Cancer J | 18(4): 287-292 | 22846728 |
| ACMG clinical laboratory standards for next-generation sequencing | Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E | 2013 | Genet Med | 15(9): 733-47 | 23887774 |