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Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65 -Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1484, doi. 10.3390/biom13101484
By:
- Kiraly, Peter;
- Cottriall, Charles L.;
- Taylor, Laura J.;
- Jolly, Jasleen K.;
- Cehajic-Kapetanovic, Jasmina;
- Yusuf, Imran H.;
- Martinez-Fernandez de la Camara, Cristina;
- Shanks, Morag;
- Downes, Susan M.;
- MacLaren, Robert E.;
- Fischer, M. Dominik
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl A Z;
- Kwasniewska, Alexandra;
- Davies, Wayne I L;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew O M;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl AZ;
- Kwasniewska, Alexandra;
- Davies, Wayne IL;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew OM;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
Published in:
2020
By:
- Cehajic-Kapetanovic, Jasmina;
- McClements, Michelle E.;
- Whitfield, Jennifer;
- Shanks, Morag;
- Clouston, Penny;
- MacLaren, Robert E.
Publication type:
journal article
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Published in:
2020
By:
- Shah, Mital;
- Broadgate, Suzanne;
- Shanks, Morag;
- Clouston, Penny;
- Yu, Jing;
- MacLaren, Robert E.;
- Németh, Andrea H.;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
journal article
Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200.
Published in:
2019
By:
- Yusuf, Imran H.;
- Birtel, Johannes;
- Shanks, Morag E.;
- Clouston, Penny;
- Downes, Susan M.;
- Charbel Issa, Peter;
- MacLaren, Robert E.
Publication type:
journal article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
By:
- Németh, Andrea H.;
- Kwasniewska, Alexandra C.;
- Lise, Stefano;
- Parolin Schnekenberg, Ricardo;
- Becker, Esther B. E.;
- Bera, Katarzyna D.;
- Shanks, Morag E.;
- Gregory, Lorna;
- Buck, David;
- Zameel Cader, M.;
- Talbot, Kevin;
- de Silva, Rajith;
- Fletcher, Nicholas;
- Hastings, Rob;
- Jayawant, Sandeep;
- Morrison, Patrick J.;
- Worth, Paul;
- Taylor, Malcolm;
- Tolmie, John;
- O’Regan, Mary
Publication type:
Article
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Published in:
JAMA Network Open, 2019, v. 2, n. 6, p. e195752, doi. 10.1001/jamanetworkopen.2019.5752
By:
- Cehajic-Kapetanovic, Jasmina;
- Birtel, Johannes;
- McClements, Michelle E.;
- Shanks, Morag E.;
- Clouston, Penny;
- Downes, Susan M.;
- Charbel Issa, Peter;
- MacLaren, Robert E.
Publication type:
Article
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation.
Published in:
2023
By:
- Kirkby, Jennifer;
- Halford, Stephanie;
- Shanks, Morag;
- Moore, Anthony;
- Gait, Anthony;
- Jenkins, Lucy;
- Clouston, Penny;
- Patel, Chetan K.;
- Downes, Susan M.
Publication type:
Case Study
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Published in:
Genes, 2022, v. 13, n. 8, p. 1423, doi. 10.3390/genes13081423
By:
- Feenstra, Helena M.;
- Al-Khuzaei, Saoud;
- Shah, Mital;
- Broadgate, Suzanne;
- Shanks, Morag;
- Kamath, Archith;
- Yu, Jing;
- Jolly, Jasleen K.;
- MacLaren, Robert E.;
- Clouston, Penny;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
Article
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Published in:
Genes, 2020, v. 11, n. 12, p. 1497, doi. 10.3390/genes11121497
By:
- Downes, Susan M.;
- Nguyen, Tham;
- Tai, Vicky;
- Broadgate, Suzanne;
- Shah, Mital;
- Al-Khuzaei, Saoud;
- MacLaren, Robert E.;
- Shanks, Morag;
- Clouston, Penny;
- Halford, Stephanie
Publication type:
Article
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Published in:
Genes, 2020, v. 11, n. 11, p. 1288, doi. 10.3390/genes11111288
By:
- Al-khuzaei, Saoud;
- Broadgate, Suzanne;
- Halford, Stephanie;
- Jolly, Jasleen K.;
- Shanks, Morag;
- Clouston, Penny;
- Downes, Susan M.
Publication type:
Article
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Published in:
2021
By:
- Al-Khuzaei, Saoud;
- Hudspith, Karl A. Z.;
- Broadgate, Suzanne;
- Shanks, Morag E.;
- Clouston, Penny;
- Németh, Andrea H.;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
journal article

Found: 13