A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Hunter JE, Irving SI, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O’Daniel J, Piper MA, Ramos EN, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver W, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KAB, on behalf of the ClinGen Resource.
Genet Med 2016 Dec;18(12):1258-1268.
PMCID: PMC5085884
5-alpha reductase inhibitors and the risk of prostate cancer mortality in men treated for benign prostatic hyperplasia.
Wallner LP, DiBello JR, Li BH, Van Den Eeden SK, Weinmann S, Ritzwoller DP, Abell JE, D'Agostino R Jr, Loo RK, Aaronson DS, Richert-Boe K, Horwitz RI, Jacobsen SJ.
Mayo Clin Proc 2016 Dec;91(12):1717-1726. [Epub 2016 Oct 27]
Clinical Sequencing Exploratory Research Consortium: Accelerating evidence-based practice of genomic medicine.
Green RC, Goddard KAB, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio T, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama J, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH, for the CSER Consortium.
Am J Hum Genet 2016 Jun 2;98(6):1051-66.
PMCID: PMC4908179
Validation of a genomic classifier for predicting post-prostatectomy recurrence in a community based health care setting.
Glass AG, Leo MC, Haddad Z, Yousefi K, du Plessis M, Chen C, Choeurng V, Abdollah F, Robbins B, Ra S, Richert-Boe KE, Buerki C, Pearson K, Davicioni E, Weinmann S.
J Urol 2016 Jun;195(6):1748-53. [Epub 2015 Nov 26]
Positive predictive value of ICD-9 code for herpes zoster among children during the varicella vaccine era.
Weinmann S, Vandermeer M, Roberts M, Mullooly J, Chun C.
Pediatr Infect Dis J 2016 Apr;35(4):459-60.
Genetic effects on sleep/wake variation of seizures.
Winawer MR, Shih J, Beck ES, Hunter JE, Epstein MP; EPGP Investigators.
Epilepsia. 2016 Apr;57(4):557-65. doi: 10.1111/epi.13330. Epub 2016 Mar 6. PMID: 26948972; PMCID: PMC5083250.
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Korngiebel DM, McMullen C, Amendola L, Berg J, Davis JV, Gilmore MJ, Harding C, Himes PN, Jarvik G, Kauffman TL, Kennedy K, Kostiner-Simpson D, Leo MC, Lynch F, Neil N, Quigley D, Reiss JA, Richards CS, Rope A, Schneider JL, Goddard KAB, Wilfond BS.
American Journal of Medical Genetics 2016 Mar;170(3):565-73. PMCID: PMC4860293
Patients’ ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Leo MC, McMullen C, Wilfond BS, Lunch F, Reiss JA, Gilmore MJ, Himes P, Kauffman TL, Davis JV, Jarvik GP, Berg JS, Harding C, Kennedy K, Kostiner-Simpson D, Quigley D, Richards CS, Rope AF, Goddard KAB.
Am J Med Genet A 2016 Mar;170(3):574-82. PMCID: PMC4824299
Family characteristics associated with likelihood of varicella vaccination.
Weinmann S, Mullooly JP, Drew L, Chun CS.
Perm J 2016 spring;20(2):54-8. [Epub 2016 Apr 15] PMCID: PMC4867826
Is it worth knowing? Focus group participants’ perceived utility of genome-scale preconception carrier screening.
Schneider JL, Goddard KAB, Davis J, Wilfond B, Kauffman TL, Reiss JA, Gilmore M, Himes P, Lynch FL, Leo MC, McMullen C.
J Genet Couns 2016 Feb;25(1):135-45. PMCID: PMC4726717
Stakeholder perspectives on implementing a universal Lynch syndrome screening program: A qualitative study of early barriers and facilitators.
Schneider JL, Davis J, Kauffman T, Reiss JA, McGinley C, Arnold K, Gilmore M, Muessig K, Sygnal S, Acheson L, Wiesner G, Peterson S, Goddard KAB.
Genetics in Medicine 2016 Feb;18(2):152-61.
PMCID: PMC4608844
Genetic effects on sleep/wake variation of seizures.
Winawer MR, Shih J, Beck ES, Hunter JE, Epstein MP; EPGP Investigators.
Epilepsia. 2016;57(4):557-565. doi:10.1111/epi.13330
Influence of congenital heart defects on psychosocial and neurodevelopmental outcomes in children with Down syndrome.
Visootsak J, Huddleston L, Buterbaugh A, Perkins A, Sherman S, Hunter J.
Cardiol Young. 2016;26(2);250-256.
PMCID:PMC4537848