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Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps.

Duncan JL, Pierce EA, Laster AM, Daiger SP, Birch DG, Ash JD, Iannaccone A, Flannery JG, Sahel JA, Zack DJ, Zarbin MA; and the Foundation Fighting Blindness Scientific Advisory Board.

Transl Vis Sci Technol. 2018 Jul 18;7(4):6. doi: 10.1167/tvst.7.4.6. eCollection 2018 Jul. No abstract available.


Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).

Daiger SP, Bowne SJ, Sullivan LS, Branham K, Wheaton DK, Jones KD, Avery CE, Cadena ED, Heckenlively JR, Birch DG.

Adv Exp Med Biol. 2018;1074:237-245. doi: 10.1007/978-3-319-75402-4_29.


Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant.

Vishnivetskiy SA, Sullivan LS, Bowne SJ, Daiger SP, Gurevich EV, Gurevich VV.

Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):13-20. doi: 10.1167/iovs.17-22180.


Innovating patient care delivery: DSRIP's interrupted time series analysis paradigm.

Shenoy AG, Begley CE, Revere L, Linder SH, Daiger SP.

Healthc (Amst). 2017 Dec 8. pii: S2213-0764(17)30074-X. doi: 10.1016/j.hjdsi.2017.11.004. [Epub ahead of print]


Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP.

Mol Vis. 2017 Jul 20;23:470-481. eCollection 2017.


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.

Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP.

Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi: 10.1167/iovs.16-21341.


SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.

Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, Agrawal SA, Li Y, Daiger SP, Gibbs R, Wang F, Chen R.

BMC Bioinformatics. 2017 Mar 3;18(1):147. doi: 10.1186/s12859-017-1566-3.


Nonsyndromic Retinitis Pigmentosa Overview.

Fahim AT, Daiger SP, Weleber RG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Aug 4 [updated 2017 Jan 19].


Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF.

Mol Genet Metab Rep. 2016 Nov 11;9:75-78. eCollection 2016 Dec.


North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.

Bowne SJ, Sullivan LS, Wheaton DK, Locke KG, Jones KD, Koboldt DC, Fulton RS, Wilson RK, Blanton SH, Birch DG, Daiger SP.

Mol Vis. 2016 Oct 17;22:1239-1247. eCollection 2016.


Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations.

Daiger SP.

Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4814. doi: 10.1167/iovs.16-20334. No abstract available.


Multimodal Imaging in Wagner Syndrome.

Thomas AS, Branham K, Van Gelder RN, Daiger SP, Sullivan LS, Bowne SJ, Heckenlively JR, Pennesi ME.

Ophthalmic Surg Lasers Imaging Retina. 2016 Jun 1;47(6):574-9. doi: 10.3928/23258160-20160601-10.


Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM.

J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11.


De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Strom SP, Clark MJ, Martinez A, Garcia S, Abelazeem AA, Matynia A, Parikh S, Sullivan LS, Bowne SJ, Daiger SP, Gorin MB.

PLoS One. 2016 Mar 10;11(3):e0150944. doi: 10.1371/journal.pone.0150944. eCollection 2016.


Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

Shankar SP, Hughbanks-Wheaton DK, Birch DG, Sullivan LS, Conneely KN, Bowne SJ, Stone EM, Daiger SP.

Invest Ophthalmol Vis Sci. 2016 Feb;57(2):349-59. doi: 10.1167/iovs.15-16965.


The Role of X-Chromosome Inactivation in Retinal Development and Disease.

Fahim AT, Daiger SP.

Adv Exp Med Biol. 2016;854:325-31. doi: 10.1007/978-3-319-17121-0_43.


Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

Daiger SP, Sullivan LS, Bowne SJ, Koboldt DC, Blanton SH, Wheaton DK, Avery CE, Cadena ED, Koenekoop RK, Fulton RS, Wilson RK, Weinstock GM, Lewis RA, Birch DG.

Adv Exp Med Biol. 2016;854:193-200. doi: 10.1007/978-3-319-17121-0_26.


Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP.

JAMA Ophthalmol. 2015 May;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115.


Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.

Daiger SP, Bowne SJ, Sullivan LS.

Cold Spring Harb Perspect Med. 2014 Oct 10;5(10). pii: a017129. doi: 10.1101/cshperspect.a017129. Review.


A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP.

Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. doi: 10.1167/iovs.14-15419.


Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, Weinstock GM, Koboldt DC, Fulton RS, Larsen D, Humphries P, Humphries MM, Pierce EA, Chen R, Li Y.

Adv Exp Med Biol. 2014;801:123-9. doi: 10.1007/978-1-4614-3209-8_16.


Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP.

Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20.


Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Avery CE, Sasser EM, Roorda A, Duncan JL, Wheaton DH, Birch DG, Branham KE, Heckenlively JR, Sieving PA, Daiger SP.

Mol Vis. 2013 Nov 24;19:2407-17. eCollection 2013.


Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R.

Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24.


Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.

Cremers FP, den Dunnen JT, Ajmal M, Hussain A, Preising MN, Daiger SP, Qamar R.

Hum Mutat. 2014 Jan;35(1):147-8. No abstract available.


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.


Genes and mutations causing retinitis pigmentosa.

Daiger SP, Sullivan LS, Bowne SJ.

Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. Review.


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.

Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.


Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP.

Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41. No abstract available.


Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.

Wen Y, Locke KG, Klein M, Bowne SJ, Sullivan LS, Ray JW, Daiger SP, Birch DG, Hughbanks-Wheaton DK.

Arch Ophthalmol. 2011 Nov;129(11):1475-82. doi: 10.1001/archophthalmol.2011.307.


High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Song J, Smaoui N, Ayyagari R, Stiles D, Benhamed S, MacDonald IM, Daiger SP, Tumminia SJ, Hejtmancik F, Wang X.

Invest Ophthalmol Vis Sci. 2011 Nov 25;52(12):9053-60. doi: 10.1167/iovs.11-7978.


Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP.

PLoS One. 2011;6(8):e23021. doi: 10.1371/journal.pone.0023021. Epub 2011 Aug 12.


A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P.

Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1109.


Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

Bowne SJ, Sullivan LS, Koboldt DC, Ding L, Fulton R, Abbott RM, Sodergren EJ, Birch DG, Wheaton DH, Heckenlively JR, Liu Q, Pierce EA, Weinstock GM, Daiger SP.

Invest Ophthalmol Vis Sci. 2011 Jan 25;52(1):494-503. doi: 10.1167/iovs.10-6180.


PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Köhn L, Kohl S, Bowne SJ, Sullivan LS, Kellner U, Daiger SP, Sandgren O, Golovleva I.

Ophthalmic Genet. 2010 Sep;31(3):139-40. doi: 10.3109/13816810.2010.486776.


A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, Zhang K, Khan SN, Riazuddin S, Hejtmancik JF, Sieving PA, Zack DJ, Katsanis N.

Am J Hum Genet. 2010 May 14;86(5):805-12. doi: 10.1016/j.ajhg.2010.04.001. Epub 2010 May 6.


Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa.

Spellicy CJ, Xu D, Cobb G, Hedstrom L, Bowne SJ, Sullivan LS, Daiger SP.

Adv Exp Med Biol. 2010;664:541-8. doi: 10.1007/978-1-4419-1399-9_62.


Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.

Daiger SP, Sullivan LS, Bowne SJ, Birch DG, Heckenlively JR, Pierce EA, Weinstock GM.

Adv Exp Med Biol. 2010;664:325-31. doi: 10.1007/978-1-4419-1399-9_37.


Survival of Texas infants born with trisomies 21, 18, and 13.

Vendola C, Canfield M, Daiger SP, Gambello M, Hashmi SS, King T, Noblin SJ, Waller DK, Hecht JT.

Am J Med Genet A. 2010 Feb;152A(2):360-6. doi: 10.1002/ajmg.a.33156.


Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.

Wu DM, Khanna H, Atmaca-Sonmez P, Sieving PA, Branham K, Othman M, Swaroop A, Daiger SP, Heckenlively JR.

Eye (Lond). 2010 May;24(5):764-74. doi: 10.1038/eye.2009.270. Epub 2009 Nov 6.


Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C.

Am J Hum Genet. 2009 Nov;85(5):617-27. doi: 10.1016/j.ajhg.2009.09.020. Epub 2009 Oct 29.


Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa.

Yamashita T, Liu J, Gao J, LeNoue S, Wang C, Kaminoh J, Bowne SJ, Sullivan LS, Daiger SP, Zhang K, Fitzgerald ME, Kefalov VJ, Zuo J.

J Neurosci. 2009 Aug 5;29(31):9748-60. doi: 10.1523/JNEUROSCI.5854-08.2009.


Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A.

Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007.


Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.

Köhn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O, Golovleva I.

Eur J Hum Genet. 2009 May;17(5):651-5. doi: 10.1038/ejhg.2008.223. Epub 2008 Dec 3.


IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA.

Mortimer SE, Xu D, McGrew D, Hamaguchi N, Lim HC, Bowne SJ, Daiger SP, Hedstrom L.

J Biol Chem. 2008 Dec 26;283(52):36354-60. doi: 10.1074/jbc.M806143200. Epub 2008 Oct 30.


Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Mol Vis. 2008 May 19;14:922-7.


Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.

Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM.

Ophthalmic Genet. 2008 Mar;29(1):17-24. doi: 10.1080/13816810701867607.


Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins.

Xu D, Cobb G, Spellicy CJ, Bowne SJ, Daiger SP, Hedstrom L.

Arch Biochem Biophys. 2008 Apr 15;472(2):100-4. doi: 10.1016/ Epub 2008 Feb 14.


Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

Daiger SP, Sullivan LS, Gire AI, Birch DG, Heckenlively JR, Bowne SJ.

Adv Exp Med Biol. 2008;613:203-9. doi: 10.1007/978-0-387-74904-4_23. No abstract available.


The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.

Gire AI, Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Mol Vis. 2007 Oct 17;13:1970-5.


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