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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
for inherited retinal dystrophies

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