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eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.

Blain D, Goetz KE, Ayyagari R, Tumminia SJ.

Clin Genet. 2013 Aug;84(2):190-7. doi: 10.1111/cge.12193. Epub 2013 Jun 5.


eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.

Goetz KE, Reeves MJ, Tumminia SJ, Brooks BP.

Curr Opin Ophthalmol. 2012 Sep;23(5):355-63. doi: 10.1097/ICU.0b013e32835715c9. Review.


Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.

Parrish RS, Garafalo AV, Ndifor V, Goetz KE, Reeves MJ, Yim A, Cooper RC, Iano-Fletcher J, Wang X, Tumminia SJ.

Biopreserv Biobank. 2016 Apr;14(2):149-55. doi: 10.1089/bio.2015.0098. Epub 2016 Feb 18.


Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605.


Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

Brooks BP, Macdonald IM, Tumminia SJ, Smaoui N, Blain D, Nezhuvingal AA, Sieving PA; National Ophthalmic Disease Genotyping Network (eyeGENE).

Arch Ophthalmol. 2008 Mar;126(3):424-5. doi: 10.1001/archopht.126.3.424. No abstract available.


Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

Centers for Disease Control and Prevention (CDC).

MMWR Recomm Rep. 2012 Apr 6;61(RR-2):1-44.


The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

Pediatric Cardiac Genomics Consortium, Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E.

Circ Res. 2013 Feb 15;112(4):698-706. doi: 10.1161/CIRCRESAHA.111.300297.


American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

American Society of Clinical Oncology.

J Clin Oncol. 2003 Jun 15;21(12):2397-406. Epub 2003 Apr 11.


Good laboratory practices for molecular genetic testing for heritable diseases and conditions.

Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD; Centers for Disease Control and Prevention (CDC).

MMWR Recomm Rep. 2009 Jun 12;58(RR-6):1-37; quiz CE-1-4.


Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R.

Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359.


The NCI All Ireland Cancer Conference.

Johnston PG, Daly PA, Liu E.

Oncologist. 1999;4(4):275-277.


Evidence Brief: The Quality of Care Provided by Advanced Practice Nurses.

McCleery E, Christensen V, Peterson K, Humphrey L, Helfand M.

VA Evidence-based Synthesis Program Evidence Briefs [Internet]. Washington (DC): Department of Veterans Affairs (US); 2011-.
2014 Sep.


Issues in genetic testing for ultra-rare diseases: background and introduction.

Ledbetter DH, Faucett WA.

Genet Med. 2008 May;10(5):309-13. doi: 10.1097/GIM.0b013e3181729d99.


Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

Das S, Bale SJ, Ledbetter DH.

Genet Med. 2008 May;10(5):332-6. doi: 10.1097/GIM.0b013e318172838d.


Harnessing academia, government, and industry.

Tumminia SJ.

Invest Ophthalmol Vis Sci. 2012 May 4;53(5):2515-21. doi: 10.1167/iovs.12-9483q. No abstract available.


EyeGENE--National Ophthalmic Disease Genotyping Network.

[No authors listed]

Insight. 2009 Apr-Jun;34(2):27. No abstract available.


Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).

Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J.

Contemp Clin Trials. 2010 Sep;31(5):394-404. doi: 10.1016/j.cct.2010.06.007. Epub 2010 Jul 8.


A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience.

Kraus WE, Granger CB, Sketch MH Jr, Donahue MP, Ginsburg GS, Hauser ER, Haynes C, Newby LK, Hurdle M, Dowdy ZE, Shah SH.

J Cardiovasc Transl Res. 2015 Nov;8(8):449-57. doi: 10.1007/s12265-015-9648-y. Epub 2015 Aug 14. Review.


Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.

Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, Frazier DM, Gohagan J, Harding C, Howell RR, Regan K, Stacpoole PW, Venditti C, Vockley J, Watson M, Coates PM.

Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23.


New and evolving rare diseases research programs at the National Institutes of Health.

Groft SC, Rubinstein YR.

Public Health Genomics. 2013;16(6):259-67. doi: 10.1159/000355929. Epub 2014 Feb 3.


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