Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A.Eliot Shearer1, Robert W. Eppsteiner1, 18, Kevin T. Booth1, 18, Sean S. Ephraim2, 18, José Gurrola II1, Allen Simpson1, E. Ann Black-Ziegelbein1, Swati Joshi3, Harini Ravi3, Angelica C. Giuffre3, Scott Happe3, Michael S. Hildebrand4, Hela Azaiez1, Yildirim A. Bayazit5, Mehmet Emin Erdal6, Jose A. Lopez-Escamez7, Irene Gazquez7, Marta L. Tamayo8, Nancy Y. Gelvez8, Greizy Lopez Leal8, Chaim Jalas9, Josef Ekstein10, Tao Yang11, Shin-ichi Usami12, Kimia Kahrizi13, Niloofar Bazazzadegan13, Hossein Najmabadi13, Todd E. Scheetz2, 14, 15, Terry A. Braun2, 14, 15

AJHG. 2014 Oct. Volume 95, issue 4, pps 445-453

 

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A. Eliot Shearer,1 Robert W. Eppsteiner,1,18 Kevin T. Booth,1,18 Sean S. Ephraim,2,18 Jose´ Gurrola, II,1 Allen Simpson,1 E. Ann Black-Ziegelbein,1 Swati Joshi,3 Harini Ravi,3 Angelica C. Giuffre,3 Scott Happe,3 Michael S. Hildebrand,4 Hela Azaiez,1 Yildirim A. Bayazit,5 Mehmet Emin Erdal,6 Jose A. Lopez-Escamez,7 Irene Gazquez,7 Marta L. Tamayo,8 Nancy Y. Gelvez,8 Greizy Lopez Leal,8 Chaim Jalas,9 Josef Ekstein,10 Tao Yang,11 Shin-ichi Usami,12 Kimia Kahrizi,13 Niloofar Bazazzadegan,13 Hossein Najmabadi,13 Todd E. Scheetz,2,14,15 Terry A. Braun,2,14,15 Thomas L. Casavant,2,14,15 Emily M. LeProust,3,19 and Richard J.H. Smith1,16,17,*

 

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

E. R. Burnight, L. A. Wiley, A. V. Drack, T. A. Braun, K. R. Anfinson, E. E. Kaalberg, J. A. Halder, L. M. Affatigato, R. F. Mullins, E. M. Stone, and B. A. Tucker

PubMed. 2014 May. pp 1-11

Pubmed ID: 24807808

 

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

C. A. Brownstein, A. H. Beggs, N. Homer, B. Merriman, T. W. Yu, K. C. Flannery, E. T. DeChene, M. C. Towne, S. K. Savage, E. N. Price, I. A. Holm, L. J. Luquette, E. Lyon, J. Majzoub, P. Neupert, D. McCallie, P. Szolovits, H. F. Willard, N. J. Mendelsohn, R. Temme, R. S. Finkel, S. W. Yum, L. Medne, S. R. Sunyaev, I. Adzhubey, C. A. Cassa, P. I. de Bakker, H. Duzkale, P. Dworzy ski, W. Fairbrother, L. Francioli, B. H. Funke, M. A. Giovanni, R. E. Handsaker, K. Lage, M. S. Lebo, M. Lek, I. Leshchiner, D. G. MacArthur, H. M. McLaughlin, M. F. Murray, T. H. Pers, P. P. Polak, S. Raychaudhuri, H. L. Rehm, R. Soemedi, N. O. Stitziel, S. Vestecka, J. Supper, C. Gugenmus, B. Klocke, A. Hahn, M. Schubach, M. Menzel, S. Biskup, P. Freisinger, M. Deng, M. Braun, S. Perner, R. J. Smith, J. L. Andorf, J. Huang, K. Ryckman, V. C. Sheffield, E. M. Stone, T. Bair, E. A. Black-Ziegelbein, T. A. Braun, B. Darbro, A. P. DeLuca, D. L. Kolbe, T. E. Scheetz, A. E. Shearer, R. Sompallae, K. Wang, A. G. Bassuk, E. Edens, K. Mathews, S. A. Moore, O. A. Shchelochkov, P. Trapane, A. Bossler, C. A. Campbell, J. W. Heusel, A. Kwitek, T. Maga, K. Panzer, T. Wassink, D. Van Daele, H. Azaiez, K. Booth, N. Meyer, M. M. Segal, M. S. Williams, G. Tromp, P. White, D. Corsmeier, S. Fitzgerald-Butt, G. Herman, D. Lamb-Thrush, K. L. McBride, D. Newsom, C. R. Pierson, A. T. Rakowsky, A. Maver, L. Lovre i, A. Palanda i, B. Peterlin, A. Torkamani, A. Wedell, M. Huss, A. Alexeyenko, J. M. Lindvall, M. Magnusson, D. Nilsson, H. Stranneheim, F. Taylan, C. Gilissen, A. Hoischen, B. van Bon, H. Yntema, M. Nelen, W. Zhang, J. Sager, L. Zhang, K. Blair, D. Kural, M. Cariaso, G. G. Lennon, A. Javed, S. Agrawal, P. C. Ng, K. S. Sandhu, S. Krishna, V. Veeramachaneni, O. Isakov, E. Halperin, E. Friedman, N. Shomron, G. Glusman, J. C. Roach, J. Caballero, H. C. Cox, D. Mauldin, S. A. Ament, L. Rowen, D. R. Richards, F. A. Lucas, M. L. Gonzalez-Garay, C. T. Caskey, Y. Bai, Y. Huang, F. Fang, Y. Zhang, Z. Wang, J. Barrera, J. M. Garcia-Lobo, D. González-Lamuño, J. Llorca, M. C. Rodriguez, I. Varela, M. G. Reese, F. M. De La Vega, E. Kiruluta, M. Cargill, R. K. Hart, J. M. Sorenson, G. J. Lyon, D. A. Stevenson, B. E. Bray, B. M. Moore, K. Eilbeck, M. Yandell, H. Zhao, L. Hou, X. Chen, X. Yan, M. Chen, C. Li, C. Yang, M. Gunel, P. Li, Y. Kong, A. C. Alexander, Z. I. Albertyn, K. M. Boycott, D. E. Bulman, P. M. Gordon, A. M. Innes, B. M. Knoppers, J. Majewski, C. R. Marshall, J. S. Parboosingh, S. L. Sawyer, M. E. Samuels, J. Schwartzentruber, I. S. Kohane, and D. M. Margulies

Genome Biology. 2014 Mar. Volumbe 15 no. 3, p. R53

Pubmed ID: 24667040

 

Altered Gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells

S. S. Whitmore, T. A. Braun, J. M. Skeie, C. M. Haas, E. H. Sohn, E. M. Stone, T. E. Scheetz, and R. F. Mullins,

Molecular Vision. 2013 Nov. Vol 19 pp. 2274-2297

Pubmed ID: 24265543

 

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

T. A. Braun, R. F. Mullins, A. H. Wagner, J. L. Andorf, R. M. Johnston, B. B. Bakall, A. P. DeLuca, G. A. Fishman, B. L. Lam, R. G. Weleber, A. V. Cideciyan, S. G. Jacobson, V. C. Sheffield, B. A. Tucker, and E. M. Stone

 

Congenital myopathy is caused by mutation of HACD1

E. Muhammad, O. Reish, Y. Ohno, T. Scheetz, A. DeLuca, C. Searby, M. Regev, L. Benyamini, Y. Fellig, A. Kihara, V. C. Sheffield, and R. Parvari,

Pubmed ID: 23933735

 

Computational identification of operon-like transcriptional loci in eukaryotes.

Nannapaneni K, Ben-Shahar Y, Keen HL, Welsh MJ, Casavant TL, Scheetz TE

Pubmed ID: 23668349

 

Advancing genetic testing for deafness with genomic Technology

A. E. Shearer, E. A. Black-Ziegelbein, M. S. Hildebrand, R. W. Eppsteiner, H. Ravi, S. Joshi, A. C. Guiffre, C. M. Sloan, S. Happe, S. D. Howard, B. Novak, A. P. Deluca, K. R. Taylor, T. E. Scheetz, T. A. Braun, T. L. Casavant, W. J. Kimberling, E. M. LeProust, and R. J.H Smith

 

Exon-level expression profiling of ocular tissues

Wagner AH, Anand N, Wang WH, Chatterton JE, Sun D, Shepard A, Jacobson N, Pang IH, Deluca A, Casavant TL, Scheetz TE, Mullins R, Braun TA, Clark AF

Exp Eye Res. 2013 Mar. doi:pii:S0014-4835(13)00058-10.1016/j.exer.2013.03.004. [Epub ahead of print]

Pubmed ID: 23500522

 

Prioritization of Retinal Disease Genes An Integrative Approach

Wagner AH, Taylor KR, Deluca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun, TA

Human Mutat. 2013 Mar. doi: 10.1002/humu.22317. [Epub ahead of print]

Pubmed ID: 23508994

 

A Hyperactive Transposase Promotes Persistent Gene Transfer of a piggyBac DNA Transposon

Erin R Burnight, Janice M Staber, Pavel Korsakov, Xianghong Li, Benjamin T Brett,, Todd E Scheetz, Nancy L Craig and Paul B McCray Jr1

Molecular Therapy Nucleic Acids. 2012 Oct. 1, e50

 

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

Mahajan, V. B.Skeie, J. M., Bassuk, A. G., Fingert, J. H., Braun, T. A., Daggett, H

PLoS Genetics. 2012 Aug. PLoS Genet. 2012;8(10):e1003001. doi: 10.1371/journal.pgen.1003001. Epub 2012 Oct 4

Pubmed ID: 23055945

 

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness

Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ

Pubmed ID: 22785243

 

Validation of Tablet-Based Evaluation of Color Fundus Images

Christopher M, Moga DC, Russell SR, Folk JC, Scheetz T, Abràmoff MD

Pubmed ID: 22495326

 

Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma

Mann KM, Ward JM, Yew CC, Kovochich A, Dawson DW, Black MA, Brett BT, Sheetz TE, Dupuy AJ; Australian Pancreatic Cancer Genome Initiative, Chang DK, Biankin AV, Waddell N, Kassahn KS, Grimmond SM, Rust AG, Adams DJ, Jenkins NA, Copeland NG

Pubmed ID: 22421440

 

Transcriptome changes in age-related macular degeneration.

Whitmore, S. Scott & Mullins, Robert F.

Pubmed ID: 22369667

 

Clonal selection drives genetic divergence of metastatic medulloblastoma

Wu X, Northcott PA, Dubuc A, Dupuy AJ, Shih DJ, Witt H, Croul S, Bouffet E, Fults DW, Eberhart CG, Garzia L, Van Meter T, Zagzag D, Jabado N, Schwartzentruber J, Majewski J, Scheetz TE, Pfister SM, Korshunov A, Li XN, Scherer SW, Cho YJ, Akagi K, MacDonald TJ, Koster J, McCabe MG, Sarver AL, Collins VP, Weiss WA, Largaespada DA, Collier LS, Taylor MD.

Pubmed ID: 22343890

 

Computational quantification of complex fundus phenotypes in age-related macular degeneration and stargardt disease

Quellec G, Russell SR, Scheetz TE, Stone EM, Abràmoff MD

Invest Ophthalmol Vis Sci. 2011 May. 52(6):2976-81

Pubmed ID: 21310908

 

Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.

O'Leary BM, Davis SG, Smith MF, Brown B, Kemp MB, Almabrazi H, Grundstad JA, Burns T, Leontiev V, Andorf J, Clark AF, Sheffield VC, Casavant TL, Scheetz TE, Stone EM, Braun TA.

J Bioinform Comput Biol. 2007 Dec. 5(6):1155-72

Pubmed ID: 18172923

 

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.

Tucker, et al.

 

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A.Eliot Shearer1, Robert W. Eppsteiner1, 18, Kevin T. Booth1, 18, Sean S. Ephraim2, 18, José Gurrola II1, Allen Simpson1, E. Ann Black-Ziegelbein1, Swati Joshi3, Harini Ravi3, Angelica C. Giuffre3, Scott Happe3, Michael S. Hildebrand4, Hela Azaiez1, Yildirim A. Bayazit5, Mehmet Emin Erdal6, Jose A. Lopez-Escamez7, Irene Gazquez7, Marta L. Tamayo8, Nancy Y. Gelvez8, Greizy Lopez Leal8, Chaim Jalas9, Josef Ekstein10, Tao Yang11, Shin-ichi Usami12, Kimia Kahrizi13, Niloofar Bazazzadegan13, Hossein Najmabadi13, Todd E. Scheetz2, 14, 15, Terry A. Braun2, 14, 15

AJHG. 2014 Oct. Volume 95, issue 4, pps 445-453

 

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A. Eliot Shearer,1 Robert W. Eppsteiner,1,18 Kevin T. Booth,1,18 Sean S. Ephraim,2,18 Jose´ Gurrola, II,1 Allen Simpson,1 E. Ann Black-Ziegelbein,1 Swati Joshi,3 Harini Ravi,3 Angelica C. Giuffre,3 Scott Happe,3 Michael S. Hildebrand,4 Hela Azaiez,1 Yildirim A. Bayazit,5 Mehmet Emin Erdal,6 Jose A. Lopez-Escamez,7 Irene Gazquez,7 Marta L. Tamayo,8 Nancy Y. Gelvez,8 Greizy Lopez Leal,8 Chaim Jalas,9 Josef Ekstein,10 Tao Yang,11 Shin-ichi Usami,12 Kimia Kahrizi,13 Niloofar Bazazzadegan,13 Hossein Najmabadi,13 Todd E. Scheetz,2,14,15 Terry A. Braun,2,14,15 Thomas L. Casavant,2,14,15 Emily M. LeProust,3,19 and Richard J.H. Smith1,16,17,*

 

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

E. R. Burnight, L. A. Wiley, A. V. Drack, T. A. Braun, K. R. Anfinson, E. E. Kaalberg, J. A. Halder, L. M. Affatigato, R. F. Mullins, E. M. Stone, and B. A. Tucker

PubMed. 2014 May. pp 1-11

Pubmed ID: 24807808

 

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

C. A. Brownstein, A. H. Beggs, N. Homer, B. Merriman, T. W. Yu, K. C. Flannery, E. T. DeChene, M. C. Towne, S. K. Savage, E. N. Price, I. A. Holm, L. J. Luquette, E. Lyon, J. Majzoub, P. Neupert, D. McCallie, P. Szolovits, H. F. Willard, N. J. Mendelsohn, R. Temme, R. S. Finkel, S. W. Yum, L. Medne, S. R. Sunyaev, I. Adzhubey, C. A. Cassa, P. I. de Bakker, H. Duzkale, P. Dworzy ski, W. Fairbrother, L. Francioli, B. H. Funke, M. A. Giovanni, R. E. Handsaker, K. Lage, M. S. Lebo, M. Lek, I. Leshchiner, D. G. MacArthur, H. M. McLaughlin, M. F. Murray, T. H. Pers, P. P. Polak, S. Raychaudhuri, H. L. Rehm, R. Soemedi, N. O. Stitziel, S. Vestecka, J. Supper, C. Gugenmus, B. Klocke, A. Hahn, M. Schubach, M. Menzel, S. Biskup, P. Freisinger, M. Deng, M. Braun, S. Perner, R. J. Smith, J. L. Andorf, J. Huang, K. Ryckman, V. C. Sheffield, E. M. Stone, T. Bair, E. A. Black-Ziegelbein, T. A. Braun, B. Darbro, A. P. DeLuca, D. L. Kolbe, T. E. Scheetz, A. E. Shearer, R. Sompallae, K. Wang, A. G. Bassuk, E. Edens, K. Mathews, S. A. Moore, O. A. Shchelochkov, P. Trapane, A. Bossler, C. A. Campbell, J. W. Heusel, A. Kwitek, T. Maga, K. Panzer, T. Wassink, D. Van Daele, H. Azaiez, K. Booth, N. Meyer, M. M. Segal, M. S. Williams, G. Tromp, P. White, D. Corsmeier, S. Fitzgerald-Butt, G. Herman, D. Lamb-Thrush, K. L. McBride, D. Newsom, C. R. Pierson, A. T. Rakowsky, A. Maver, L. Lovre i, A. Palanda i, B. Peterlin, A. Torkamani, A. Wedell, M. Huss, A. Alexeyenko, J. M. Lindvall, M. Magnusson, D. Nilsson, H. Stranneheim, F. Taylan, C. Gilissen, A. Hoischen, B. van Bon, H. Yntema, M. Nelen, W. Zhang, J. Sager, L. Zhang, K. Blair, D. Kural, M. Cariaso, G. G. Lennon, A. Javed, S. Agrawal, P. C. Ng, K. S. Sandhu, S. Krishna, V. Veeramachaneni, O. Isakov, E. Halperin, E. Friedman, N. Shomron, G. Glusman, J. C. Roach, J. Caballero, H. C. Cox, D. Mauldin, S. A. Ament, L. Rowen, D. R. Richards, F. A. Lucas, M. L. Gonzalez-Garay, C. T. Caskey, Y. Bai, Y. Huang, F. Fang, Y. Zhang, Z. Wang, J. Barrera, J. M. Garcia-Lobo, D. González-Lamuño, J. Llorca, M. C. Rodriguez, I. Varela, M. G. Reese, F. M. De La Vega, E. Kiruluta, M. Cargill, R. K. Hart, J. M. Sorenson, G. J. Lyon, D. A. Stevenson, B. E. Bray, B. M. Moore, K. Eilbeck, M. Yandell, H. Zhao, L. Hou, X. Chen, X. Yan, M. Chen, C. Li, C. Yang, M. Gunel, P. Li, Y. Kong, A. C. Alexander, Z. I. Albertyn, K. M. Boycott, D. E. Bulman, P. M. Gordon, A. M. Innes, B. M. Knoppers, J. Majewski, C. R. Marshall, J. S. Parboosingh, S. L. Sawyer, M. E. Samuels, J. Schwartzentruber, I. S. Kohane, and D. M. Margulies

Genome Biology. 2014 Mar. Volumbe 15 no. 3, p. R53

Pubmed ID: 24667040

 

Altered Gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells

S. S. Whitmore, T. A. Braun, J. M. Skeie, C. M. Haas, E. H. Sohn, E. M. Stone, T. E. Scheetz, and R. F. Mullins,

Molecular Vision. 2013 Nov. Vol 19 pp. 2274-2297

Pubmed ID: 24265543

 

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

T. A. Braun, R. F. Mullins, A. H. Wagner, J. L. Andorf, R. M. Johnston, B. B. Bakall, A. P. DeLuca, G. A. Fishman, B. L. Lam, R. G. Weleber, A. V. Cideciyan, S. G. Jacobson, V. C. Sheffield, B. A. Tucker, and E. M. Stone

 

Congenital myopathy is caused by mutation of HACD1

E. Muhammad, O. Reish, Y. Ohno, T. Scheetz, A. DeLuca, C. Searby, M. Regev, L. Benyamini, Y. Fellig, A. Kihara, V. C. Sheffield, and R. Parvari,

Pubmed ID: 23933735

 

Computational identification of operon-like transcriptional loci in eukaryotes.

Nannapaneni K, Ben-Shahar Y, Keen HL, Welsh MJ, Casavant TL, Scheetz TE

Pubmed ID: 23668349

 

Advancing genetic testing for deafness with genomic Technology

A. E. Shearer, E. A. Black-Ziegelbein, M. S. Hildebrand, R. W. Eppsteiner, H. Ravi, S. Joshi, A. C. Guiffre, C. M. Sloan, S. Happe, S. D. Howard, B. Novak, A. P. Deluca, K. R. Taylor, T. E. Scheetz, T. A. Braun, T. L. Casavant, W. J. Kimberling, E. M. LeProust, and R. J.H Smith

 

Exon-level expression profiling of ocular tissues

Wagner AH, Anand N, Wang WH, Chatterton JE, Sun D, Shepard A, Jacobson N, Pang IH, Deluca A, Casavant TL, Scheetz TE, Mullins R, Braun TA, Clark AF

Exp Eye Res. 2013 Mar. doi:pii:S0014-4835(13)00058-10.1016/j.exer.2013.03.004. [Epub ahead of print]

Pubmed ID: 23500522

 

Prioritization of Retinal Disease Genes An Integrative Approach

Wagner AH, Taylor KR, Deluca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun, TA

Human Mutat. 2013 Mar. doi: 10.1002/humu.22317. [Epub ahead of print]

Pubmed ID: 23508994

 

A Hyperactive Transposase Promotes Persistent Gene Transfer of a piggyBac DNA Transposon

Erin R Burnight, Janice M Staber, Pavel Korsakov, Xianghong Li, Benjamin T Brett,, Todd E Scheetz, Nancy L Craig and Paul B McCray Jr1

Molecular Therapy Nucleic Acids. 2012 Oct. 1, e50

 

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

Mahajan, V. B.Skeie, J. M., Bassuk, A. G., Fingert, J. H., Braun, T. A., Daggett, H

PLoS Genetics. 2012 Aug. PLoS Genet. 2012;8(10):e1003001. doi: 10.1371/journal.pgen.1003001. Epub 2012 Oct 4

Pubmed ID: 23055945

 

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness

Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ

Pubmed ID: 22785243

 

Validation of Tablet-Based Evaluation of Color Fundus Images

Christopher M, Moga DC, Russell SR, Folk JC, Scheetz T, Abràmoff MD

Pubmed ID: 22495326

 

Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma

Mann KM, Ward JM, Yew CC, Kovochich A, Dawson DW, Black MA, Brett BT, Sheetz TE, Dupuy AJ; Australian Pancreatic Cancer Genome Initiative, Chang DK, Biankin AV, Waddell N, Kassahn KS, Grimmond SM, Rust AG, Adams DJ, Jenkins NA, Copeland NG

Pubmed ID: 22421440

 

Transcriptome changes in age-related macular degeneration.

Whitmore, S. Scott & Mullins, Robert F.

Pubmed ID: 22369667

 

Clonal selection drives genetic divergence of metastatic medulloblastoma

Wu X, Northcott PA, Dubuc A, Dupuy AJ, Shih DJ, Witt H, Croul S, Bouffet E, Fults DW, Eberhart CG, Garzia L, Van Meter T, Zagzag D, Jabado N, Schwartzentruber J, Majewski J, Scheetz TE, Pfister SM, Korshunov A, Li XN, Scherer SW, Cho YJ, Akagi K, MacDonald TJ, Koster J, McCabe MG, Sarver AL, Collins VP, Weiss WA, Largaespada DA, Collier LS, Taylor MD.

Pubmed ID: 22343890

 

Computational quantification of complex fundus phenotypes in age-related macular degeneration and stargardt disease

Quellec G, Russell SR, Scheetz TE, Stone EM, Abràmoff MD

Invest Ophthalmol Vis Sci. 2011 May. 52(6):2976-81

Pubmed ID: 21310908

 

Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.

O'Leary BM, Davis SG, Smith MF, Brown B, Kemp MB, Almabrazi H, Grundstad JA, Burns T, Leontiev V, Andorf J, Clark AF, Sheffield VC, Casavant TL, Scheetz TE, Stone EM, Braun TA.

J Bioinform Comput Biol. 2007 Dec. 5(6):1155-72

Pubmed ID: 18172923

 

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.

Tucker, et al.