Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

por Buckley, Thomas M.W., Cehajic-Kapetanovic, Jasmina, Shanks, Morag, Clouston, Penny, MacLaren, Robert E.
Publicado 2022

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

por Al-khuzaei, Saoud, Broadgate, Suzanne, Halford, Stephanie, Jolly, Jasleen K., Shanks, Morag, Clouston, Penny, Downes, Susan M.
Publicado 2020

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

por Kirkby, Jennifer, Halford, Stephanie, Shanks, Morag, Moore, Anthony, Gait, Anthony, Jenkins, Lucy, Clouston, Penny, Patel, Chetan K., Downes, Susan M.
Publicado 2023

Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis

por Shanks, Morag E., May, Celia A., Dubrova, Yuri E., Balaresque, Patricia, Rosser, Zoë H., Adams, Susan M., Jobling, Mark A.
Publicado 2008

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

por Al-Khuzaei, Saoud, Hudspith, Karl A. Z., Broadgate, Suzanne, Shanks, Morag E., Clouston, Penny, Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Publicado 2021

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration

por Cehajic-Kapetanovic, Jasmina, Birtel, Johannes, McClements, Michelle E., Shanks, Morag E., Clouston, Penny, Downes, Susan M., Charbel Issa, Peter, MacLaren, Robert E.
Publicado 2019

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

por Downes, Susan M., Nguyen, Tham, Tai, Vicky, Broadgate, Suzanne, Shah, Mital, Al-Khuzaei, Saoud, MacLaren, Robert E., Shanks, Morag, Clouston, Penny, Halford, Stephanie
Publicado 2020

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

por 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.
Publicado 2022

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center

por 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
Publicado 2023

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

por 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, Valentine, Ruth, Packham, Emily, Evans, Julie, Seller, Anneke, Ragoussis, Jiannis
Publicado 2013