Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa von de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.

Volltext

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes von Baine, Fiona K, Kay, Chris, Ketelaar, Maria E, Collins, Jennifer A, Semaka, Alicia, Doty, Crystal N, Krause, Amanda, Greenberg, L Jacquie, Hayden, Michael R

Volltext

A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease von Kay, Chris, Collins, Jennifer A., Caron, Nicholas S., Agostinho, Luciana de Andrade, Findlay-Black, Hailey, Casal, Lorenzo, Sumathipala, Dulika, Dissanayake, Vajira H.W., Cornejo-Olivas, Mario, Baine, Fiona, Krause, Amanda, Greenberg, Jacquie L., Paiva, Carmen Lúcia Antão, Squitieri, Ferdinando, Hayden, Michael R.

Volltext

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population von Kay, Chris, Collins, Jennifer A., Wright, Galen E.B., Baine, Fiona, Miedzybrodzka, Zosia, Aminkeng, Folefac, Semaka, Alicia J., McDonald, Cassandra, Davidson, Mark, Madore, Steven J., Gordon, Erynn S., Gerry, Norman P., Cornejo‐Olivas, Mario, Squitieri, Ferdinando, Tishkoff, Sarah, Greenberg, Jacquie L., Krause, Amanda, Hayden, Michael R.

Volltext

Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype von Scholefield, Janine, Greenberg, L Jacquie, Weinberg, Marc S, Arbuthnot, Patrick B, Abdelgany, Amr, Wood, Matthew J A

Volltext

The world through their eyes: The perceptions and lived experience among Capetonian young adults with hereditary visual impairment von Popel, Kalinka, Leisegang, Cordelia, Dusterwald, Gill, Greenberg, Jacquie

Volltext

The Guanine-Thymine Dinucleotide Repeat Polymorphism Within the Tenascin-C Gene Is Associated With Achilles Tendon Injuries von Mokone, Gaonyadiwe G., Gajjar, Mamta, September, Alison V., Schwellnus, Martin P., Greenberg, Jacquie, Noakes, Timothy D., Collins, Malcolm

Volltext

The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population von Baine, Fiona K., Krause, Amanda, Greenberg, L. Jacquie

Volltext

Stem cells on South African shores: proposed guidelines for comprehensive informed consent von Greenberg, Jacquie, Smith, Danielle, Pope, Anne

Volltext

Apoptosis-Inducing Signal Sequence Mutation in Carbonic Anhydrase IV Identified in Patients with the RP17 Form of Retinitis Pigmentosa von Rebello, George, Ramesar, Rajkumar, Vorster, Alvera, Roberts, Lisa, Ehrenreich, Liezle, Oppon, Ekow, Gama, Dumisani, Bardien, Soraya, Greenberg, Jacquie, Bonapace, Giuseppe, Waheed, Abdul, Shah, Gul N., Sly, William S.

Volltext

Polyglutamine disease: from pathogenesis to therapy von Watson, Lauren M, Scholefield, Janine, Greenberg, L Jacquie, Wood, Matthew J A

Volltext

Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families von Atadzhanov, Masharip, Smith, Danielle C, Mwaba, Mwila H, Siddiqi, Omar K, Bryer, Alan, Greenberg, L Jacquie

Volltext

Genetic counseling in South Africa: A growing profession von Wessels, Tina-Marié, Greenberg, Jacquie L., Fourie, Katryn, Kromberg, Jennifer G.R.

Volltext

Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients von Roberts, Lisa J, Nossek, Christel A, Greenberg, L Jacquie, Ramesar, Rajkumar S

Volltext

A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora von Roberts, Lisa, George, Siddiqah, Greenberg, Jacquie, Ramesar, Raj S

Volltext

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts von Scholefield, Janine, Watson, Lauren, Smith, Danielle, Greenberg, Jacquie, Wood, Matthew J A

Volltext

A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations von SCHOLEFIELD, Janine, GREENBERG, Jacquie

Volltext

Foreword von Greenberg, Jacquie, Stephen, Lawrence, Bryer, Alan, Hayden, Michael

Volltext

Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles von Smith, Danielle C, Esterhuizen, Alina, Greenberg, Jacquie

Volltext

Mutation Spectrum and Founder Chromosomes for the ABCA4 Gene in South African Patients with Stargardt Disease von September, Alison V, Vorster, Anna A, Ramesar, Rajkumar S, Greenberg, L. Jacquie

Volltext