A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia by Yusuf, I, Shanks, M, Clouston, P, Maclaren, R

Novel pathogenic sequence variants in NR2E3 and clinical findings in three patients by Al-Khuzaei, S, Broadgate, S, Halford, S, Jolly, JK, Shanks, M, Clouston, P, Downes, SM

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia by Kwasniewska, A, Shanks, M, Lise, S, Cader, M, Talbot, K, Downes, S, Ragoussis, J, Nemeth, A

Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant by Bellingrath, J-S, McClements, ME, Shanks, M, Clouston, P, Fischer, MD, MacLaren, RE

Novel non-contiguous exon duplication in choroideremia by Edwards, T, Williams, J, Patrício, M, Simunovic, M, Shanks, M, Clouston, P, MacLaren, R

Association of a novel intronic variant in RPGR with hypomorphic phenotype of x-linked retinitis pigmentosa by Cehajic-Kapetanovic, J, McClements, ME, Whitfield, J, Shanks, M, Clouston, P, MacLaren, RE

Retinitis pigmentosa caused by variants in SNRNP200 by Yusuf, IH, Birtel, J, Shanks, M, Clouston, P, Downes, SM, Charbel Issa, P, MacLaren, RE

Association of clinical and genetic heterogeneity with BEST1 sequence variations by Shah, M, Broadgate, S, Shanks, M, Clouston, P, Yu, J, MacLaren, RE, Németh, AH, Halford, S, Downes, SM

Genetic and clinical findings in an ethnically diverse cohort with Retinitis Pigmentosa associated with pathogenic variants in CERKL by Downes, SM, Nguyen, T, Tai, V, Broadgate, S, Shah, M, Al-Khuzaei, S, MacLaren, RE, Shanks, M, Clouston, P, Halford, S

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin by Nemeth, A, Davies, W, Downes, S, Fu, J, Shanks, M, Copley, R, Lise, S, Gibson, K, Ramsden, S, Black, G, Foster, R, Hankins, M

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin. by Davies, W, Downes, S, Fu, J, Shanks, M, Copley, R, Lise, S, Ramsden, S, Black, G, Gibson, K, Foster, R, Hankins, M, Németh, A

Phenotypic and genetic characteristics in a cohort of patients with Usher genes by Feenstra, HM, Shah, M, Broadgate, S, Shanks, M, Kamath, A, Yu, J, Jolly, JK, MacLaren, RE, Clouston, P, Halford, S, Downes, SM

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD) by Shanks, M, Downes, S, Kwasniewska, A, Packham, E, Clouston, P, Seller, A, Copley, R, Lise, S, Taylor, J, Hudspith, K, Wilkie, A, Ragoussis, J, Nemeth, A

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. by Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. by Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS) by Nemeth, A, Kwasniewska, A, Schnekenberg, R, Lise, S, Becker, E, Shanks, M, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Lunt, P, Morrisor, P, Worth, P, Tolmie, J, Packham, E, Seller, A, Ragoussis, J

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model by Németh, A, Jiannis Ragoussis, Kwasniewska, A, Lise, S, Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O’Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. by Németh, A, Kwasniewska, A, Lise, S, Parolin Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Zameel Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O'Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A, Ragoussis, J