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Items: 1 to 50 of 125

1.

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies.

Barnes CS, Schuchard RA, Birch DG, Dagnelie G, Wood L, Koenekoop RK, Bittner AK.

Transl Vis Sci Technol. 2019 Jun 11;8(3):36. doi: 10.1167/tvst.8.3.36. eCollection 2019 May.

2.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I.

Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28.

PMID:
30825406
3.

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.

Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P.

J Clin Invest. 2018 Dec 3;128(12):5663-5675. doi: 10.1172/JCI96098. Epub 2018 Nov 12.

4.

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

Lorés-Motta L, Riaz M, Grunin M, Corominas J, van Asten F, Pauper M, Leenders M, Richardson AJ, Muether P, Cree AJ, Griffiths HL, Pham C, Belanger MC, Meester-Smoor MA, Ali M, Heid IM, Fritsche LG, Chakravarthy U, Gale R, McKibbin M, Inglehearn CF, Schlingemann RO, Omar A, Chen J, Koenekoop RK, Fauser S, Guymer RH, Hoyng CB, de Jong EK, Lotery AJ, Mitchell P, den Hollander AI, Baird PN, Chowers I.

JAMA Ophthalmol. 2018 Aug 1;136(8):875-884. doi: 10.1001/jamaophthalmol.2018.2019.

5.

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.

Song JY, Aravand P, Nikonov S, Leo L, Lyubarsky A, Bennicelli JL, Pan J, Wei Z, Shpylchak I, Herrera P, Bennett DJ, Commins N, Maguire AM, Pham J, den Hollander AI, Cremers FPM, Koenekoop RK, Roepman R, Nishina P, Zhou S, Pan W, Ying GS, Aleman TS, de Melo J, McNamara I, Sun J, Mills J, Bennett J.

Mol Ther. 2018 Jun 6;26(6):1581-1593. doi: 10.1016/j.ymthe.2018.03.015. Epub 2018 Mar 21.

6.

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis.

Ibrahim MT, Alarcon-Martinez T, Lopez I, Fajardo N, Chiang J, Koenekoop RK.

Sci Rep. 2018 Mar 22;8(1):5034. doi: 10.1038/s41598-018-22704-z.

7.

Revisiting Congenital Stationary Night Blindness in the Molecular Era.

Koenekoop RK.

JAMA Ophthalmol. 2018 Apr 1;136(4):398-399. doi: 10.1001/jamaophthalmol.2018.0193. No abstract available.

PMID:
29522064
8.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R.

Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18.

9.

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

Keser V, Khan A, Siddiqui S, Lopez I, Ren H, Qamar R, Nadaf J, Majewski J, Chen R, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1028-1036. doi: 10.1167/iovs.16-20281.

10.

Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.

Tremblay N, Baril M, Chatel-Chaix L, Es-Saad S, Park AY, Koenekoop RK, Lamarre D.

PLoS Pathog. 2017 Jan 24;13(1):e1006174. doi: 10.1371/journal.ppat.1006174. eCollection 2017 Jan.

11.

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

Coussa RG, Lopez Solache I, Koenekoop RK.

Ophthalmic Genet. 2017 Jan-Feb;38(1):7-15. doi: 10.1080/13816810.2016.1275021. Epub 2017 Jan 17. Review.

12.

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.

Riaz M, Lorés-Motta L, Richardson AJ, Lu Y, Montgomery G, Omar A, Koenekoop RK, Chen J, Muether P, Altay L, Schick T, Fauser S, Smailhodzic D, van Asten F, de Jong EK, Hoyng CB, Burdon KP, MacGregor S, Guymer RH, den Hollander AI, Baird PN.

Sci Rep. 2016 Nov 28;6:37924. doi: 10.1038/srep37924.

13.

Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.

Tremblay N, Baril M, Chatel-Chaix L, Es-Saad S, Park AY, Koenekoop RK, Lamarre D.

PLoS Pathog. 2016 Jul 25;12(7):e1005772. doi: 10.1371/journal.ppat.1005772. eCollection 2016 Jul. Erratum in: PLoS Pathog. 2017 Jan 24;13(1):e1006174.

14.

Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome.

Mikhail M, Modabber M, Koenekoop RK, Braverman N, Khan A.

Eye (Lond). 2016 Sep;30(9):1272-3. doi: 10.1038/eye.2016.100. Epub 2016 May 27. No abstract available.

15.

Erratum to: Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up.

Gauvin M, Chakor H, Koenekoop RK, Little JM, Lina JM, Lachapelle P.

Doc Ophthalmol. 2016 Jun;132(3):231. No abstract available.

PMID:
27126338
16.

Orbital cellulitis and multiple abscess formation after strabismus surgery.

Mikhail M, Koenekoop RK, Khan A.

Can J Ophthalmol. 2016 Apr;51(2):e60-2. doi: 10.1016/j.jcjo.2015.12.006. No abstract available.

PMID:
27085279
17.

Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up.

Gauvin M, Chakor H, Koenekoop RK, Little JM, Lina JM, Lachapelle P.

Doc Ophthalmol. 2016 Jun;132(3):213-29. doi: 10.1007/s10633-016-9537-y. Epub 2016 Apr 4. Erratum in: Doc Ophthalmol. 2016 Jun;132(3):231.

PMID:
27041556
18.

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R.

Hum Mol Genet. 2016 Apr 15;25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28.

19.

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.

Matsui R, McGuigan Iii DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, Cideciyan AV, Jacobson SG.

Ophthalmic Genet. 2016 Sep;37(3):333-8. doi: 10.3109/13816810.2015.1130154. Epub 2016 Feb 8.

20.

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R.

Genet Med. 2016 Oct;18(10):1044-51. doi: 10.1038/gim.2015.205. Epub 2016 Jan 28.

21.

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8297-305. doi: 10.1167/iovs.15-17104. Erratum in: Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4768.

22.

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.

Zhang AY, Mysore N, Vali H, Koenekoop J, Cao SN, Li S, Ren H, Keser V, Lopez-Solache I, Siddiqui SN, Khan A, Mui J, Sears K, Dixon J, Schwartzentruber J, Majewski J, Braverman N, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8158-65. doi: 10.1167/iovs.14-15751.

23.

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).

Scholl HP, Moore AT, Koenekoop RK, Wen Y, Fishman GA, van den Born LI, Bittner A, Bowles K, Fletcher EC, Collison FT, Dagnelie G, Degli Eposti S, Michaelides M, Saperstein DA, Schuchard RA, Barnes C, Zein W, Zobor D, Birch DG, Mendola JD, Zrenner E; RET IRD 01 Study Group.

PLoS One. 2015 Dec 10;10(12):e0143846. doi: 10.1371/journal.pone.0143846. eCollection 2015.

24.

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.

25.

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration.

Lorés-Motta L, van Asten F, Muether PS, Smailhodzic D, Groenewoud JM, Omar A, Chen J, Koenekoop RK, Fauser S, Hoyng CB, den Hollander AI, de Jong EK.

Pharmacogenet Genomics. 2016 Jan;26(1):20-7. doi: 10.1097/FPC.0000000000000180.

26.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

27.

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH.

Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1.

28.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK.

Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15.

29.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK.

Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614.

30.

A Review of Secondary Photoreceptor Degenerations in Systemic Disease.

Mysore N, Koenekoop J, Li S, Ren H, Keser V, Lopez-Solache I, Koenekoop RK.

Cold Spring Harb Perspect Med. 2014 Dec 4;5(11). pii: a025825. doi: 10.1101/cshperspect.a025825. Review.

31.

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.

Badeeb OM, Micheal S, Koenekoop RK, den Hollander AI, Hedrawi MT.

BMC Med Genet. 2014 Sep 28;15:109. doi: 10.1186/s12881-014-0109-2.

32.

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB.

Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.

PMID:
25227500
33.

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.

34.

Correlates, stability and predictors of borderline personality disorder among previously suicidal youth.

Greenfield B, Henry M, Lis E, Slatkoff J, Guilé JM, Dougherty G, Zhang X, Raz A, Eugene Arnold L, Daniel L, Mishara BL, Koenekoop RK, de Castro F.

Eur Child Adolesc Psychiatry. 2015 Apr;24(4):397-406. doi: 10.1007/s00787-014-0589-9. Epub 2014 Aug 2.

PMID:
25084977
35.

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.

Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA.

Lancet. 2014 Oct 25;384(9953):1513-20. doi: 10.1016/S0140-6736(14)60153-7. Epub 2014 Jul 13.

PMID:
25030840
36.

Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications.

Garon ML, Dorfman AL, Racine J, Koenekoop RK, Little JM, Lachapelle P.

Doc Ophthalmol. 2014 Aug;129(1):9-16. doi: 10.1007/s10633-014-9446-x. Epub 2014 Jun 4.

PMID:
24894580
37.

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.

Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D.

J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29.

PMID:
24780881
38.

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP.

J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15.

PMID:
24737827
39.

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.

40.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.

Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16.

41.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP.

Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.

42.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.

Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Erratum in: Hum Mutat. 2014 Jan;35(1):149. Ramsear, Raj [corrected to Ramesar, Raj].

43.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R.

J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11.

44.

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.

Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.

45.

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, Ren H, Keser V, Lopez I, Tuan HF, Salvo JS, Wang X, Zhao L, Wang K, Li Y, Koenekoop RK, Chen R, Sui R.

Invest Ophthalmol Vis Sci. 2013 Jun 14;54(6):4158-66. doi: 10.1167/iovs.13-11672.

46.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.

PMID:
23499059
47.

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA.

JAMA Ophthalmol. 2013 Feb;131(2):178-82. doi: 10.1001/2013.jamaophthalmol.354.

48.

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM.

PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7.

49.

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauvé Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9.

PMID:
23307924
50.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ.

Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434.

PMID:
23143442

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