Photo of Stephen Daiger Stephen P. Daiger, PhD, Professor

Human Genetics Center, School of Public Health
The University of Texas Health Science Center
1200 Pressler St.
Houston, TX 77030

(713)-500-9829 Office
(713)-500-0900 Fax



Research Interests:

Dr. Daiger is Director of the Laboratory for Molecular Diagnosis of Inherited Eye Diseases, a CLIA certified DNA diagnostic laboratory. His research focuses on genes and mutations causing inherited retinal diseases such as retinitis pigmentosa, Leber congenital amaurosis and macular degeneration. Ongoing projects include mutation studies of genes causing autosomal dominant retinitis pigmentosa and X-linked retinitis pigmentosa, linkage mapping in families with autosomal dominant retinal diseases, and characterization of genes and proteins identified in earlier research including IMPDH1 (RP10) and RP1. Dr. Daiger has also given testimony in criminal cases as an expert witness on DNA fingerprinting.

Professional Appointments and Activities:


Research support:

Recent and Representative Publications:

  1. SH Blanton, JR Heckenlively, AW Cottingham, J Friedman, LA Sadler, M Wagner, LH Friedman, SP Daiger. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics, 11:857-873, 1991. [PubMed]
  2. JR Heckenlively, JA Rodriguez, SP Daiger. Autosomal dominant sectoral retinitis pigmentosa: two families with rhodopsin codon 23 transversion. Arch. Ophthal., 109:84-91, 1991. [PubMed]
  3. J Tomfohrde, S Wood, J Schertzer, MJ Wagner, DE Wells, J Parrish, LA Sadler, SH Blanton, SP Daiger, Z Wang, PJ Wilkie, JL Weber. Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors. Genomics, 14:144-152, 1992. [PubMed]
  4. RJH Smith, EC Lee, WJ Kimberling, SP Daiger, MZ Pelias, BJB Keats, M Jay, A Bird, W Reardon, M Guest, R Ayyagari, JF Hejtmancik. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics, 14:995-1002, 1992. [PubMed]
  5. T Steinbrueck, C Read, SP Daiger, LA Sadler, JL Weber, S Wood, H Donis-Keller. Chromosome 8. Sci., 258:71-ff, 1992.
  6. R Chakraborty, MR Srinivasan, SP Daiger. Evaluation of standard error and confidence interval of estimated multilocus genotype probabilities, and their implications in DNA forensics. Am. J. Hum. Genet., 52:60-70, 1993. [PubMed]
  7. JA Rodriguez, CA Herrera, DG Birch, SP Daiger. A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa. Hum. Mut., 2:205-213, 1993. [PubMed]
  8. RE McGuire, AM Gannon, LA Sadler-Sullivan, JA Rodriguez, SP Daiger. Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Hum. Genet., 95:71-74, 1995. [PubMed]
  9. SP Daiger, LS Sullivan, JA Rodriguez. Correlation of phenotype with genotype in inherited retinal degeneration. Behavioral Brain Sci., 18:491-506, 1995.
  10. RE McGuire, LS Sullivan, SH Blanton, ME Church, JR Heckenlively, SP Daiger. X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am. J. Hum. Genet., 57:87-94, 1995. [PubMed]
  11. LS Sullivan, SP Daiger. Inherited degeneration of the retina: exceptional genetic and clinical heterogeneity. Molecular Med. Today, 2:380-386, 1996. [PubMed]
  12. RE McGuire, SA Jordan, VV Braden, GG Bouffard, P Humphries, ED Green, SP Daiger. Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. Genome Res., 6:255-266, 1996. [PubMed]
  13. MM Sohocki, LS Sullivan, WR Harrison, EJ Sodergren, FFB Elder, G Weinstock, S Tanase, SP Daiger. Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequence, and polymorphic sites. Genomics, 40:247-252, 1997. [PubMed]
  14. RE McGuire, SP Daiger, ED Green. Localization and characterization of the human ADP-ribosylation factor 5 (ARF5) gene. Genomics, 41:481-484, 1997. [PubMed]
  15. MM Sohocki, LS Sullivan, H Mintz-Hittner, K Small, RE Ferrell, SP Daiger. Exclusion of atypical vitelliform macular dystrophy (VMD1) from 8q24.3 and from other known macular degenerative loci. Am. J. Hum. Genet., 61:239-241, 1997. [PubMed]
  16. RW Yee, LS Sullivan, HT Lai, EL Stock, Y Lu, MN Kahn, SP Daiger. Linkage mapping of Thiel-Behnke corneal dystrophy (CDTB) to chromosome 10q23-q24. Genomics, 46:152-154, 1997. [PubMed]
  17. MM Sohocki, LS Sullivan, HA Mintz-Hittner, D Birch, JR Heckenlively, CA Freund, RR McInnes, SP Daiger. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription factor gene. Am. J. Hum. Genet., 63:1307-1315, 1998. [PubMed]
  18. MM Sohocki, KA Malone, LS Sullivan, SP Daiger. Localization of retina/pineal-specific expressed sequences (ESTs): identification of novel candidate genes for inherited retinal disorders. Genomics, 57:1-7, 1999. [PubMed]
  19. LS Sullivan, JR Heckenlively, SJ Bowne, J Zuo, WA Hide, A Gal, M Denton, CF Inglehearn, SH Blanton, SP Daiger. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat. Genet., 22:248-251, 1999. [PubMed]
  20. SJ Bowne, SP Daiger, MM Hims, MS Sohocki, KA Malone, AB McKie, JR Heckenlively, DG Birch, CF Inglehearn, SS Bhattacharya, A Bird, LS Sullivan. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum. Mol. Genet., 11:2121-2128, 1999. [PubMed]
  21. SJ Bowne, LS Sullivan, L Ding, E Traer, SM Prescott, DG Birch, A Kennan, P Humphries, SP Daiger. Evaluation of human diacylglycerol kinase iota, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q. Mol. Vis., 6:6-9, 2000. [PubMed]
  22. MM Sohocki, SJ Bowne, LS Sullivan, S Blackshaw, CL Cepko, AM Payne, SS Bhattacharya, S Khaliq, DG Birch, WR Harrison, FFB Elder, JR Heckenlively, SP Daiger. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat. Genet., 24:79-83, 2000. [PubMed]
  23. MM Sohocki, I Perrault, B Leroy, AM Payne, S Dharmaraj, SS Bhattacharya, J Kaplan, IH Maumenee, R Koenekoop, DG Birch, JR Heckenlively, SP Daiger. Prevalence of AIPL1 mutations in inherited retinal degenerative diseases. Mol. Genet. Metabol., 70:142-150, 2000. [PubMed]
  24. AJ Mears, S Hiriyanna, R Vervoort, B Yashar, L Gieser, S Fahrner, SP Daiger, JR Heckenlively, PA Sieving, AF Wright, A Swaroop. Re-mapping the RP15 locus and identification of a de novo insertion in a novel RPGR exon. Am. J. Hum. Genet., 67:1000-1003, 2000. [PubMed]
  25. MM Sohocki, SP Daiger, SJ Bowne, JA Rodriquez, H Northrup, JR Heckenlively, DG Birch, H Mintz-Hittner, RS Ruiz, RA Lewis, DA Saperstein, LS Sullivan. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum. Mut., 17:42-51, 2001. [PubMed]
  26. MM Sohocki, LS Sullivan, DL Tirpak, SP Daiger. Comparative analysis of aryl-hydrocarbon interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans. Mamm. Genome, 12:566-568, 2001. [PubMed]
  27. JR Heckenlively, SP Daiger. "Hereditary Retinal and Choroidal Degenerations". Principals and Practices of Medical Genetics, Fourth Edition, Rimoin et al., Eds., Churchill Livingston, 2002.
  28. Q Liu, AH Milam, SP Daiger, DB Farber, JR Heckenlively, LS Sullivan, J Zuo, EA Pierce. Localization of the photoreceptor protein RP1 to connecting cilium of human and mouse photoreceptors. Invest. Ophthalmol. Vis. Sci., 43:22-32, 2002. [PubMed]
  29. SJ Bowne, LS Sullivan, SH Blanton, CL Cepko, S Blackshaw, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum. Mol. Genet., 11:559-568, 2002. [PubMed]
  30. J Gao, K Cheon, S Nusinowitz, Q Liu, D Bei, K Atkins, A Azimi, SP Daiger, DB Farber, JR Heckenlively, EA Pierce, LS Sullivan, J Zuo. Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc. Natl. Acad. Sci. USA, 99:5698-5703, 2002. [PubMed]
  31. DT Akey, X Zhu, M Dyer, A Li, A Sorensen, S Blackshaw, T Fukuda-Kamitani, SP Daiger, CM Craft, T Kamitani, MM Sohocki. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum. Mol. Genet., 11:2723-2733, 2002. [PubMed]
  32. SJ Bowne, SP Daiger, KA Malone, JR Heckenlively, A Kennan, P Humphries, D Hughbanks-Wheaton, DG Birch, Q Liu, EA Pierce, J Zuo, Q Huang, D Donovan, LS Sullivan. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1 ) gene. Mol. Vis., 9:129-137, 2003. [PubMed]
  33. SC Khani, AJ Karoukis, JE Young, R Ambasudhan, T Burch, R Stockton, RA Lewis, LS Sullivan, SP Daiger, E Reichel, R Ayyagari. Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and non-exudative maculopathy associated with mutation in RDS gene. Invest. Ophthalmol. Vis. Sci., 44:3570-3577, 2003. [PubMed]
  34. LS Sullivan, X Zhao, SJ Bowne, X Xu, SP Daiger, SB Yee, RW Yee. Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2 on chromosome 10q23-q25. Curr. Eye Res., 27:223-226, 2003. [PubMed]
  35. A Kennan, A Aherne, SJ Bowne, SP Daiger, GJ Farrar, PF Kenna, P Humphries. On the role of IMPDH1 in retinal degeneration. Adv. Exp. Med. Biol., 533:13-18, 2003. [PubMed]
  36. SP Daiger, LS Sullivan, SJ Bowne, A Kennan, P Humphries, DG Birch, JR Heckenlively, RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. Adv. Exp. Med. Biol., 533:1-11, 2003. [PubMed]
  37. DT Akey, X Zhu, M Dyer, A Li, A Sorensen, T Fukada-Kamitani, SP Daiger, C Craft, T Kamitani, MM Sohocki. Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors. Adv. Exp. Med. Biol., 33:287-295, 2003. [PubMed]
  38. SP Daiger. Identifying retinal disease genes: how far have we come, how far do we have to go? Novartis Found. Symp., 255:17-27, 2004. [PubMed]
  39. SP Daiger. Genetics. Was the Human Genome Project worth the effort? Sci., 308:362-364, 2005. [PubMed]
  40. P Kozma, DK Hughbanks-Wheaton, KG Locke, GE Fish, AI Gire, CJ Spellicy, LS Sullivan, SJ Bowne, SP Daiger, DG Birch DG. Phenotypic characterization of a large family with RP10 autosomal dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. Am. J Ophthalmol., 140:858-867, 2005. [PubMed]
  41. SP Daiger, SP Shankar, AB Schindler, LS Sullivan, SJ Bowne, TM King, EW Daw, EM Stone, JR Heckenlively. Genetic factors modifying clinical expression of autosomal dominant RP. Adv. Exp. Med. Biol., 572:3-8, 2006. [PubMed]
  42. SJ Bowne, LS Sullivan, SE Mortimer, L Hedstrom, J Zhu, CJ Spellicy, AI Gire, D Hughbanks-Wheaton, DG Birch, RA Lewis, JR Heckenlively, SP Daiger. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci., 47:34-42, 2006. [PubMed]
  43. C Bowes Rickman, JN Ebright, ZJ Zavodni, L Yu, T Wang, SP Daiger, G Wistow, K Boon, MA Hauser. Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Invest. Ophthalmol. Vis. Sci., 47:2305-2316, 2006. [PubMed]
  44. LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, RA Lewis, CA Garcia, RS Ruiz, SH Blanton, H Northrup, AI Gire, R Seaman, H Duzkale, CJ Spellicy, J Zhu, SP Shankar, SP Daiger. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa (adRP): a screen of known genes in 200 families. Invest. Ophthalmol. Vis. Sci., 47:3052-3064, 2006. [PubMed]
  45. SJ Bowne, Q Liu, LS Sullivan, J Zhu, CJ Spellicy, CB Rickman, EA Pierce, SP Daiger. Why do mutations in the ubiquitously expressed housekeeping gene, IMPDH1, cause retinal-specific photoreceptor degeneration? Invest. Ophthalmol. Vis. Sci., 47:3754-3765, 2006. [PubMed]
  46. LS Sullivan, SJ Bowne, CR Seaman, SH Blanton, RA Lewis, JR Heckenlively, DG Birch, D Hughbanks-Wheaton, SP Daiger. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 47:4579-4588, 2006. [PubMed]
  47. SP Daiger, SJ Bowne, LS Sullivan. Perspective on genes and mutations causing retinitis pigmentosa. Arch. Ophthalmol., 125:151-158, 2007. [PubMed]
  48. LS Sullivan, EB Baylin, R Font, SP Daiger, JS Pepose, TE Clinch, H Nakamura, XC Zhao, RW Yee. A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. Mol Vis., 13:975-980, 2007. [PubMed]
  49. CJ Spellicy, SP Daiger, LS Sullivan, J Zhu, Q Liu, EA Pierce, SJ Bowne. Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species. Mol. Vis., 13:1866-1872, 2007. [PubMed]
  50. AI Gire, LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol. Vis., 13:1970-1975, 2007. [PubMed]
  51. SP Shankar, JH Fingert, V Carelli, ML Valentino, TM King, SP Daiger, SR Salomao, A Berezovsky, R Belfort Jr, TA Braun, VC Sheffield, AA Sadun, EM Stone. Evidence for a novel X-linked modifier locus for Leber Hereditary Optic Neuropathy. Ophthalmic Genet., 29:17-24, 2008. [PubMed]
  52. D Xu, G Cobb, CJ Spellicy, SJ Bowne, SP Daiger, L Hedstrom. Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins. Arch. Biochem. Biophys., 472:100-104, 2008. [PubMed]
  53. SP Daiger, LS Sullivan, AI Gire, DG Birch, JR Heckenlively, SJ Bowne. Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv. Exp. Med. Biol., 613:203-209, 2008. [PubMed]
  54. SJ Bowne, LS Sullivan, AI Gire, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa (adRP). Mol. Vis., 14:922-927, 2008. [PubMed]
  55. SE Mortimer, D Xu, N Hamaguchi, D McGrew, HC Lim, SJ Bowne, SP Daiger, L Hedstrom. The missing link to retinal degeneration: IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin. J. Biol. Chem., 283:36354-36360, 2008. [PubMed]
  56. Köhn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O, Golovleva I. Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance. 17:651-655, Eur. J. Hum. Genet., 2009. [PubMed]
  57. JS Friedman, JW Ray, N Waseem, K Johnson, MJ Brooks, T Hugosson, D Breuer, KE Branham, DS Krauth, SJ Bowne, LS Sullivan, V Ponjavic, L Gränse, R Khanna, EH Trager, LM Gieser, D Hughbanks-Wheaton, RI Cojocaru, NM Ghiasvand, CF Chakarova, M Abrahamson, HHH Göring, AR Webster, DG Birch, GR Abecasis, Y Fann, SS Bhattacharya, SP Daiger, JR Heckenlively, S Andréasson and A Swaroop. Mutations in a novel BTB-Kelch protein, KLHL7, cause autosomal dominant retinitis pigmentosa. Amer. J. Hum. Genet., 84:792-800, 2009. [PubMed]
  58. DM Wu, H Khanna, P Atmaca-Sonmez, PA Sieving, K Branham, M Othman, A Swaroop, SP Daiger, Heckenlively JR. Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye, 23:1-11, 2009. [PubMed]
  59. T Yamashita, J Liu, J Gao, S LeNoue, C Wang, J Kaminoh, SJ Bowne, LS Sullivan, SP Daiger, K Zhang, MEC Fitzgerald, VJ Kefalov, J Zuo. Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci., 29:9748-9760, 2009. [PubMed]
  60. C Zhao, DL Bellur, S Lu, F Zhao, MA Grassi, SJ Bowne, LS Sullivan, SP Daiger, LJ Chen, CP Pang, K Zhao, JP Staley, C Larsson. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am. J. Hum. Genet., 85:617-627, 2009. [PubMed]
  61. I Golovleva, L Köhn, M Burstedt, SP Daiger, O Sandgren. Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden. Adv. Exp. Med. Biol., 664:255-262, 2010. [PubMed]
  62. SP Daiger, LS Sullivan, SJ Bowne, DG Birch DG, JR Heckenlively, EA Pierce, GM Weinstock. Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. Adv. Exp. Med. Biol., 664:325-331, 2010. [PubMed]
  63. CJ Spellicy, D Xu, G Cobb, L Hedstrom, SJ Bowne, LS Sullivan, SP Daiger. Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. Adv. Exp. Med. Biol., 664:541-548, 2010. [PubMed]
  64. SA Riazuddin, M Iqbal, Y Wang, T Masuda, Y Chen, SJ Bowne, LS Sullivan, NH Waseem, S Bhattacharya, SP Daiger, K Zhang, SN Khan, S Riazuddin, JF Hejtmancik, PA Sieving, DJ Zack, N Katsanis. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am. J. Hum. Genet., 86:805-812, 2010. [PubMed]
  65. L Köhn, Kohl, SJ Bowne, LS Sullivan, Kellner, SP Daiger, O Sandgren, I Golovleva. PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. Ophthalmic Genetics, 2010. [PubMed]
  66. SJ Bowne, LS Sullivan, DC Koboldt, L Ding, R Fulton, RM Abbott, EJ Sodergren, DG Birch, DH Wheaton, JR Heckenlively, Q Liu, EA Pierce, GM Weinstock, SP Daiger. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest. Ophthalmol. Vis. Sci., 52:494-503, 2011. [PubMed]
  67. SJ Bowne, MM Humphries, LS Sullivan, PF Kenna, LCS Tam, AS Kiang, M Campbell, GM Weinstock, DC Koboldt, L Ding, R Fulton, EJ Sodergren, D Alman, SH Blanton, S Slifer, I Konidari, GJ Farrar, SP Daiger, P Humphries. A dominant-acting mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Euro. J. Hum. Genet., 10:1-8, 2011. [PubMed]
  68. AT Fahim, SJ Bowne, LS Sullivan, K Clark, JT Williams, DK Wheaton, DG Birch, SP Daiger. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to mutations in RPGR. PLoS One, 6:e23021, 2011. [PubMed]
  69. J Song, N Smaoui, R Ayyagari, D Stiles, S Benhamed, I MacDonald, SP Daiger, S Tumminia, F Hejtmancik, X Wang. High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest. Ophthalmol. Vis. Sci., 52:9053-2060, 2011. [PubMed]
  70. Y Wen, KG Locke, M Klein, SJ Bowne, LS Sullivan, JW Ray, SP Daiger, DG Birch, DK Hughbanks-Wheaton. Phenotypic characterization of three families with autosomal dominant retinitis pigmentosa (adRP) due to mutations in KLHL7 Arch. Ophthalmol., 129:1475-1482, 2011. [PubMed]
  71. AT Fahim, SJ Bowne, LS Sullivan, KD Webb, JT Williams, DK Wheaton, DG Birch, SP Daiger. Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Adv. Exp. Med. Biol., 723:313-320, 2012. [PubMed]
  72. JD Churchill, SJ Bowne, LS Sullivan, RA Lewis, DK Wheaton, DG Birch, KE Branham, JR Heckenlively, SP Daiger. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 54:1411-1416, 2013. [PubMed]
  73. SJ Bowne, LS Sullivan, CE Avery, EM Sasser, A Roorda, JL Duncan, DH Wheaton, DG Birch, KE Branham, JR Heckenlively, PA Sieving, SP Daiger. Mutations in the SNRNP200 gene cause 1.6% of autosomal dominant retinitis pigmentosa. 19:2407-2417, 2013. [PubMed]
  74. LS Sullivan, SJ Bowne, MJ Reeves, D Blain, K Goetz, V NDifor, S Vitez, X Wang, SJ Tumminia, SP Daiger. Prevalence of mutations in eyeGENE® probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 19:6255-6261, 2013. [PubMed]
  75. F Wang, H Wang, H-F Tuan, DH Nguyen, V Sun, V Keser, SJ Bowne, LS Sullivan, H Luo, L Zhao, X Wang, JE Zaneveld, JS Salvo, S Siddiqui, L Mao, DK Wheaton, DG Birch, KE Branham, JR Heckenlively, C Wen, K Flagg, H Ferreyra, A Khan, H Ren, K Wang, I Lopez, R Qamar, JC Zenteno, R Ayala-Ramirez, B Buentello-Volante, Q Fu, DA Simpson, Y Li, R Sui, G Silvestri, SP Daiger, RK Koenekoop, K Zhang, R Chen. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum. Genet., 133:331-345, 2013. [PubMed]
  76. DC Koboldt, DE Larson, LS Sullivan, SJ Bowne, KM Steinberg, JD Churchill, AC Buhr, N Nutter, EA Pierce, SH Blanton, GM Weinstock, RK Wilson, SP Daiger. Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am. J. Hum. Genet., 94:373-384, 2014. [PubMed]
  77. LS Sullivan, DC Koboldt, SJ Bowne, S Lang, SH Blanton, EL Cadena, CE Avery, RA Lewis, K Webb-Jones, DH Wheaton, DG Birch, R Coussa, H Ren, I Lopez, C Chakarova, RK Koenekoop, CA Garcia, RS Fulton, RK Wilson, GM Weinstock and SP Daiger. A dominant mutation in hexokinase 1 (HK1) causes retinitis 2 pigmentosa. Invest. Ophthalmol. Vis. Sci., 55:7147-7158, 2014. [PubMed]
  78. SP Daiger, SJ Bowne and LS Sullivan. Genes and mutations causing autosomal dominant retinitis pigmentosa. Cold Spring Harb. Perspect. Med., 5:a017129, 2015. [PubMed]
  79. SP Shankar, DG Birch, RS Ruiz, DK Hughbanks-Wheaton, LS Sullivan, SJ Bowne, EM Stone, SP Daiger. Founder effect of a PRPH2 c.828+3A>T splice-site mutation causing autosomal dominant retinal dystrophies. JAMA Ophthalmol., 133:511-517, 2015. [PubMed]
  80. SP Shankar, DK Hughbanks-Wheaton, DG Birch, LS Sullivan, KN Conneely, SJ Bowne, EM Stone, SP Daiger. Autosomal dominant retinal dystrophies caused by a founder splice site mutation, c.828+3A>T, in PRPH2 and protein haplotypes in trans as modifiers. Invest. Ophthalmol. Vis. Sci., 57:349-359, 2016. [PubMed]
  81. SP Strom, MJ Clark, A Martinez, S Garcia, A Matynia, S Parikh, LS Sullivan, SJ Bowne, SP Daiger, MB Gorin. De novo occurrence of a variant in ARL3 and apparent autosomal dominant transmission of retinitis pigmentosa. PLoS One, 11:e0150944, 2016. [PubMed]
  82. SJ Bowne, LS Sullivan, DK Wheaton, KG Locke, KD Jones, DC Koboldt, RS Fulton, RK Wilson, SH Blanton, DG Birch, SP Daiger. North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. Mol. Vis. 22:1239-1247, 2016. [PubMed]
  83. LS Sullivan, SJ Bowne, DC Koboldt, EL Cadena, JR Heckenlively, KE Branham, DH Wheaton, KD Jones, RS Ruiz, ME Pennesi, P Yang, D Davis-Boozer, H Northrup, VV Gurevich, R Chen, M Xu, Y Li, DG Birch, SP Daiger. A novel dominant mutation in SAG, the arrestin-1 gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States. Invest. Ophthalmol. Vis. Sci., 58:2774-2784, 2017. [PubMed]
  84. KD Jones, DK Wheaton, SJ Bowne, LS Sullivan, DG Birch, R Chen, SP Daiger. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol. Vis. 23:470-481, 2017. [PubMed]
  85. SA Vishnivetskiy, LS Sullivan, SJ Bowne, SP Daiger, EV Gurevich, VW Gurevich. Molecular defects of the disease-causing human arrestin-1 C147F mutant. Invest. Ophthalmol. Vis. Sci. 59:13-20, 2018. [PubMed]
  86. SP Daiger, SJ Bowne, LS Sullivan, K Branham, DK Wheaton, KD Jones, CE Avery, ED Cadena, JR Heckenlively, DG Birch DG. Molecular findings in families with an initial diagnose of autosomal dominant retinitis pigmentosa (adRP). Adv. Exp. Med. Biol. 1074:237-245, 2018. [PubMed]
  87. JL Duncan, EA Pierce, AM Laster, SP Daiger, DG Birch, JD Ash, A Iannaccone, JG Flannery, JA Sahel, DJ Zack, MA Zarbin, the Foundation Fighting Blindness Scientific Advisory Board. Inherited retinal degenerations: Current landscape and knowledge gaps. Transl. Vis. Sci. Technol. 7:6, 2018. [PubMed]
  88. K Kiser, KD Webb-Jones, SJ Bowne, LS Sullivan, SP Daiger, DG Birch. Time course of disease progression of PRPF31-mediated retinitis pigmentosa. Am. J. Ophthalmol. 2018. [PubMed]
  89. SP Daiger, LS Sullivan, SJ Bowne, ED Cadena, D Koboldt, KM Bujakowska, EA Pierce. Detection of large structural variants causing inherited retinal diseases. Adv. Exp. Med. Biol. 1185:197-202, 2019. [PubMed]
  90. AT Fahim, LS Sullivan, SJ Bowne, K Jones, DKH Wheaton, N Khan, JR Heckenlively, KT Jayasundera, K Branham, C Andrews, M Othmann, AJ Karoukis, D Birch, SP Daiger. X-chromosome inactivation is a biomarker of clinical severity in female carriers of X-Linked retinitis pigmentosa. Ophthalmol. Retina, 4:510-520, 2019. [PubMed]
  91. DA Thompson, A Iannaccone, RR Ali, V Arshavsky, IS Audo, J Bainbridge, CG Besirli, DG Birch, KE Branham, AV Cideciyan, SP Daiger, D Dalkara, JL Duncan, AT Fahim, JG Flannery, Ro Gattegna, JR Heckenlively, E Heon, KT Jayasundera, NW Khan, H Klassen, BP Leroy, RS Molday, DC Musch, ME Pennesi, SM Petersen-Jones, EA Pierce, RC Rao, TA Reh, JA Sahel, D Sharon, PA Sieving, E Strettoi, P Yang, DN Zacks, The Monaciano Consortium. Advancing clinical trials for inherited retinal diseases: recommendations from the Second Monaciano Symposium. In press, Transl. Vis. Sci. Technol., 2019. [PubMed]
  92. B Cogné, X Latypova, L Martin, S Senaratne, G Kellaris, G Le Meur, D Caldari, D Debray, E Frengen, S Bowne, E Cadena, SP Daiger, K Bujakowska, EA Pierce, MB Gorin, L Legeai-Mallert, N Katsanis, S Bézieua, LS Sullivan. EE Davis, B Isidor. Mutations in kinesin-2 motor KIF3B cause an autosomal dominant ciliopathy. Amer. J. Hum. Genet., 106:893-904, 2020. [PubMed]
  93. JF Hejtmancik, SP Daiger. Understanding the genetic architecture of human retinal degenerations. Proc. Natl. Acad. Sci. USA. Feb 7, 2020. [PubMed]
  94. RB Hufnagel, W Liang, JL Duncan, CC Brewer, I Audo, AR Ayala, K Branham, JK Cheetham, SP Daiger, TA Durham, B Guan, E Heon, CB Hoyng, A Iannaccone, CN Kay, M Michaelides, ME Pennesi, MS Singh, E Ullah, Foundation Fighting Blindness Consortium Investigator Group. Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum Mutat 1-12, 2022. [PubMed]
  95. M Langouët, C Jolicoeur, A Javed, P Mattar, MD Gearhart, SP Daiger, M Bertelsen, L Tranebjærg, ND Rendtorff, K Grønskov, C Jespersgaard, R Chen, Z Sui, H Li, N Alirezaie, J Majewski, VJ Bardwell, R Sui, RK Koenekoop, M Cayouette. Mutations in BCOR, a novel co-repressor of OTX2/CRX, are associated with early-onset retinal degenerations. Sci. Adv., 8:eabh2868, 2022. [PubMed]
  96. R Sangermano, P Biswas, LS Sullivan, EM Place, S Borooah, J Straubhaar, EA Pierce, SP Daiger, KM Bujakowska, R Ayaggari. Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early onset recessive rod-cone degeneration. CSH Mol Case Studies, 8:a006247, 2022. [PubMed]
  97. D Birch, SP Daiger, C Hoyng, C Kay, I MacDonald, M Pennesi, L Sullivan, J Cheetham. Overcoming the challenges to clinical development of X-linked retinitis pigmentosa therapies: Proceedings of an Expert Panel. Trans. Vis. Sci. Tech., 2023. [PubMed]
  98. SP Daiger, LS Sullivan, EL Cadena, SJ Bowne. History of finding genes and mutations causing inherited retinal diseases. Cold Spring Harb Perspect Med. 2023. [PubMed]

Commencement Address:

Link to Human Genetics Center Home Page
Link to RetNet (Retinal Information Network) Home Page

©1996-2024, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas. Last updated January 2024