Browse by UCL people
Group by: Type | Date
Number of items: 26.
2021
Solaguren-Beascoa, M;
Bujakowska, KM;
Mejecase, C;
Emmenegger, L;
Orhan, E;
Neuille, M;
Mohand-Said, S;
... Zeitz, C; + view all
(2021)
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Clinical Genetics
, 99
(2)
pp. 298-302.
10.1111/cge.13872.
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2020
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Acar, İE;
Lores-Motta, L;
Colijn, JM;
Meester-Smoor, MA;
Verzijden, T;
Cougnard-Gregoire, A;
Ajana, S;
... EYE-RISK Consortium; + view all
(2020)
Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration: The EYE-RISK Consortium.
Ophthalmology
10.1016/j.ophtha.2020.06.020.
(In press).
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Waseem, NH;
Low, S;
Shah, AZ;
Avisetti, D;
Ostergaard, P;
Simpson, M;
Niemiec, KA;
... Foster, PJ; + view all
(2020)
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
PLoS Genetics
, 16
(4)
, Article e1008721. 10.1371/journal.pgen.1008721.
(In press).
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2019
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Colijn, JM;
Hollander, AID;
Demirkan, A;
Cougnard-Grégoire, A;
Verzijden, T;
Kersten, E;
Meester, MA;
... E3 Consortium and EYE-RISK Consortium, .; + view all
(2019)
Increased High Density Lipoprotein-levels associated with Age-related Macular degeneration. Evidence from the EYE-RISK and E3 Consortia.
Ophthalmology
, 126
(3)
pp. 393-406.
10.1016/j.ophtha.2018.09.045.
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Knopfel, EB;
Vilches, C;
Camargo, SMR;
Errasti-Murugarren, E;
Staubli, A;
Mayayo, C;
Munier, FL;
... Kloeckener-Gruissem, B; + view all
(2019)
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.
Frontiers in Physiology
, 10
, Article 688. 10.3389/fphys.2019.00688.
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Merle, BMJ;
Colijn, JM;
Cougnard-Grégoire, A;
de Koning-Backus, APM;
Delyfer, MN;
Kiefte-de Jong, JC;
Meester-Smoor, M;
... Vasiliev, V; + view all
(2019)
Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration: The EYE-RISK Consortium.
Ophthalmology
, 126
(3)
pp. 381-390.
10.1016/j.ophtha.2018.08.006.
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2018
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Rose, AM;
Krishan, A;
Chakarova, CF;
Moya, L;
Chambers, S;
Hollands, M;
Illingworth, JC;
... Bhattacharya, SS; + view all
(2018)
MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer.
Annals of Oncology
, 29
(5)
pp. 1292-1303.
10.1093/annonc/mdy082.
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2017
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Colijn, JM;
Buitendijk, GHS;
Prokofyeva, E;
Alves, D;
Cachulo, ML;
Khawaja, AP;
Cougnard-Gregoire, A;
... European Eye Epidemiology (E3) consortium, .; + view all
(2017)
Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future.
Ophthalmology
10.1016/j.ophtha.2017.05.035.
(In press).
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Lukovic, D;
Diez Lloret, A;
Stojkovic, P;
Rodríguez-Martínez, D;
Perez Arago, MA;
Rodriguez-Jimenez, FJ;
González-Rodríguez, P;
... Erceg, S; + view all
(2017)
Highly Efficient Neural Conversion of Human Pluripotent Stem Cells in Adherent and Animal-Free Conditions.
Stem Cells Translational Medicine
, 6
(4)
pp. 1217-1226.
10.1002/sctm.16-0371.
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2016
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Alfano, G;
Kruczek, PM;
Shah, AZ;
Kramarz, B;
Jeffery, G;
Zelhof, AC;
Bhattacharya, SS;
(2016)
EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.
PLoS One
, 11
(11)
, Article e0166397. 10.1371/journal.pone.0166397.
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Alfano, G;
Shah, AZ;
Jeffery, G;
Bhattacharya, SS;
(2016)
First insights into the expression of VAX2 in humans and its localization in the adult primate retina.
Experimental Eye Research
, 148
pp. 24-29.
10.1016/j.exer.2016.05.008.
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Czub, B;
Shah, AZ;
Alfano, G;
Kruczek, PM;
Chakarova, CF;
Bhattacharya, SS;
(2016)
TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.
PLoS One
, 11
(2)
, Article e0148678. 10.1371/journal.pone.0148678.
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Khaw, PT;
Low, S;
Waseem, N;
Ostergaard, P;
Ruddle, J;
Minghuang, H;
Cordell, H;
... Foster, P; + view all
(2016)
Genome wide linkage scan of primary angle-closure glaucoma and its endophenotypes.
Investigative Ophthalmology & Visual Science
, 57
(12)
, Article 806.
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Rose, AM;
Shah, AZ;
Venturini, G;
Krishna, A;
Chakravarti, A;
Rivolta, C;
Bhattacharya, SS;
(2016)
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Scientific Reports
, 6
, Article 19450. 10.1038/srep19450.
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2015
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Kruczek, PM;
(2015)
Characterisation of interacting partner(s) for EYS, a major gene implicated in autosomal recessive retinitis pigmentosa.
Doctoral thesis , UCL (University College London).
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2014
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Giovanna, A;
Shah, A;
Waseem, NH;
Bhattacharya, S;
(2014)
New insights into the biological role of VAX2 in human, in health and disease.
Presented at: 64th Annual Meeting of the American Society of Human Genetics, San Diego, US.
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Nongpiur, ME;
Khor, CC;
Jia, H;
Cornes, BK;
Chen, LJ;
Qiao, C;
Nair, KS;
... Aung, T; + view all
(2014)
ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma.
PLoS Genetics
, 10
(3)
, Article e1004089. 10.1371/journal.pgen.1004089.
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Rose, AM;
Shah, AZ;
Venturini, G;
Rivolta, C;
Rose, GE;
Bhattacharya, SS;
(2014)
Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of "Linked Trans-Acting Epistasis".
Ann Hum Genet
, 78
(1)
pp. 62-71.
10.1111/ahg.12042.
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Sergouniotis, PI;
Chakarova, C;
Murphy, C;
Becker, M;
Lenassi, E;
Arno, G;
Lek, M;
... Plagnol, V; + view all
(2014)
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Am J Hum Genet
, 94
(5)
760 - 769.
10.1016/j.ajhg.2014.04.003.
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2012
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Liskova, P;
Gwilliam, R;
Filipec, M;
Jirsova, K;
Reinstein Merjava, S;
Deloukas, P;
Webb, TR;
... Hardcastle, AJ; + view all
(2012)
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
PLoS One
, 7
(9)
, Article e45495. 10.1371/journal.pone.0045495.
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Venturini, G;
Rose, AM;
Shah, AZ;
Bhattacharya, SS;
Rivolta, C;
(2012)
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
PLoS Genet
, 8
(11)
, Article e1003040. 10.1371/journal.pgen.1003040.
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2010
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Audo, I;
Bujakowska, K;
Mohand-Said, S;
Lancelot, ME;
Moskova-Doumanova, V;
Waseem, NH;
Antonio, A;
... Zeitz, C; + view all
(2010)
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
BMC Medical Genetics
, 11
, Article 145. 10.1186/1471-2350-11-145.
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2009
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Friedman, J;
Ray, JW;
Waseem, N;
Johnson, K;
Brooks, MJ;
Hugosson, T;
Breuer, D;
... Swaroop, A; + view all
(2009)
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa.
Presented at: NIH Research Festival 2009, Bethesda, Maryland, US.
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2007
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Maubaret, C;
Vaclavik, V;
Waseem, N;
Churchill, A;
Webster, A;
Bhattacharya, SS;
(2007)
A novel mutation in exon 39 of PRPF8 is responsible for RP with variable expressivity.
Presented at: European Vision Summit 2007, Interlaken, Swizterland.
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2003
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Zito, I;
Downes, SM;
Patel, RJ;
Cheetham, ME;
Ebenezer, ND;
Jenkins, SA;
Bhattacharya, SS;
... Hardcastle, AJ; + view all
(2003)
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.
J MED GENET
, 40
(8)
609 - 615.
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1991
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HAGGERTY, ID;
KEEN, J;
CURTIS, A;
BHATTACHARYA, SS;
(1991)
A new Xmnl polymorphism for the DMD probe PERT 87-8.
Nucleic Acids Research
, 19
(3)
680 - 680.
10.1093/nar/19.3.680.
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