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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract
Published in:
Human Genomics, 2014, v. 8, n. 1, p. 19, doi. 10.1186/s40246-014-0019-6
By:
- Mackay, Donna S;
- Bennett, Thomas M;
- Culican, Susan M;
- Shiels, Alan
Publication type:
Article
NMNAT1 mutations cause Leber congenital amaurosis.
Published in:
Nature Genetics, 2012, v. 44, n. 9, p. 1040, doi. 10.1038/ng.2361
By:
- Falk, Marni J;
- Zhang, Qi;
- Nakamaru-Ogiso, Eiko;
- Kannabiran, Chitra;
- Fonseca-Kelly, Zoe;
- Chakarova, Christina;
- Audo, Isabelle;
- Mackay, Donna S;
- Zeitz, Christina;
- Borman, Arundhati Dev;
- Staniszewska, Magdalena;
- Shukla, Rachna;
- Palavalli, Lakshmi;
- Mohand-Said, Saddek;
- Waseem, Naushin H;
- Jalali, Subhadra;
- Perin, Juan C;
- Place, Emily;
- Ostrovsky, Julian;
- Xiao, Rui
Publication type:
Article
Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.
Published in:
PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132529
By:
- Mackay, Donna S.;
- Bennett, Thomas M.;
- Shiels, Alan
Publication type:
Article
Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma.
Published in:
PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104000
By:
- Bennett, Thomas M.;
- Mackay, Donna S.;
- Siegfried, Carla J.;
- Shiels, Alan
Publication type:
Article
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032330
By:
- Mei Hong Tan;
- Mackay, Donna S.;
- Jill Cowing;
- Tran, Hoai Viet;
- Smith, Alexander J.;
- Wright, Genevieve A.;
- Dev-Borman, Arundhati;
- Henderson, Robert H.;
- Moradi, Phillip;
- Russell-Eggitt, Isabelle;
- MacLaren, Robert E.;
- Robson, Anthony G.;
- Cheetham, Michael E.;
- Thompson, Dorothy A.;
- Webster, Andrew R.;
- Michaelides, Michel;
- Ali, Robin R.;
- Moore, Anthony T.
Publication type:
Article
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 10, p. 784, doi. 10.1038/sj.ejhg.5201046
By:
- Mackay, Donna S.;
- Andley, Usha P.;
- Shiels, Alan
Publication type:
Article
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
Published in:
2016
By:
- Hull, Sarah;
- Malik, Aeesha N. J.;
- Arno, Gavin;
- Mackay, S.;
- Plagnol, Vincent;
- Michaelides, Michel;
- Mansour, Sahar;
- Albanese, Assunta;
- Brown, Katrina Tatton;
- Holder, Graham E.;
- Webster, Andrew R.;
- Heath, Paul T.;
- Moore, Anthony T.;
- Mackay, Donna S
Publication type:
journal article
A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity.
Published in:
Human Mutation, 2014, v. 35, n. 3, p. 289, doi. 10.1002/humu.22482
By:
- Borman, Arundhati Dev;
- Pearce, Laura R.;
- Mackay, Donna S.;
- Nagel‐Wolfrum, Kerstin;
- Davidson, Alice E.;
- Henderson, Robert;
- Garg, Sumedha;
- Waseem, Naushin H.;
- Webster, Andrew R.;
- Plagnol, Vincent;
- Wolfrum, Uwe;
- Farooqi, I. Sadaf;
- Moore, Anthony T.
Publication type:
Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 150, doi. 10.1002/humu.22467
By:
- Mackay, Donna S.;
- Borman, Arundhati Dev;
- Sui, Ruifang;
- Born, L. Ingeborgh;
- Berson, Eliot L.;
- Ocaka, Louise A.;
- Davidson, Alice E.;
- Heckenlively, John R.;
- Branham, Kari;
- Ren, Huanan;
- Lopez, Irma;
- Maria, Maleeha;
- Azam, Maleeha;
- Henkes, Arjen;
- Blokland, Ellen;
- Andreasson, [Sten;
- Baere, Elfride;
- Bennett, Jean;
- Chader, Gerald J.;
- Berger, Wolfgang
Publication type:
Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
Published in:
Human Mutation, 2013, v. 34, n. 11, p. 1537, doi. 10.1002/humu.22398
By:
- Mackay, Donna S.;
- Borman, Arundhati Dev;
- Sui, Ruifang;
- Born, L. Ingeborgh;
- Berson, Eliot L.;
- Ocaka, Louise A.;
- Davidson, Alice E.;
- Heckenlively, John R.;
- Branham, Kari;
- Ren, Huanan;
- Lopez, Irma;
- Maria, Maleeha;
- Azam, Maleeha;
- Henkes, Arjen;
- Blokland, Ellen;
- Andreasson, Sten;
- Baere, Elfride;
- Bennett, Jean;
- Chader, Gerald J.;
- Berger, Wolfgang
Publication type:
Article
RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 506, doi. 10.1002/humu.22264
By:
- Davidson, Alice E.;
- Sergouniotis, Panagiotis I.;
- Mackay, Donna S.;
- Wright, Genevieve A.;
- Waseem, Naushin H.;
- Michaelides, Michel;
- Holder, Graham E.;
- Robson, Anthony G.;
- Moore, Anthony T.;
- Plagnol, Vincent;
- Webster, Andrew R.
Publication type:
Article
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 20, p. 3482
By:
- Gregory-Evans, Cheryl Y.;
- Moosajee, Mariya;
- Hodges, Matthew D.;
- Mackay, Donna S.;
- Game, Laurence;
- Vargesson, Neil;
- Bloch-Zupan, Agnès;
- Rüschendorf, Franz;
- Santos-Pinto, Lourdes;
- Wackens, Georges;
- Gregory-Evans, Kevin
Publication type:
Article
A Locus for Autosomal Dominant Posterior Polar Cataract on Chromosome 1p.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 1, p. 47, doi. 10.1093/hmg/6.1.47
By:
- Ionides, Alexander C. W.;
- Berry, Vanita;
- Mackay, Donna S.;
- Moore, Anthony T.;
- Bhattacharya, Shomi S.;
- Shiels, Alan
Publication type:
Article

Found: 13