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Author/Creator Kasperaviciute, Dalia

1. Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Issue 2 (13th November 2013)

Authors:
Mok, Kin Y.; Schneider, Susanne A.; Trabzuni, Daniah; Stamelou, Maria; Edwards, Mark; Kasperaviciute, Dalia; Pickering‐Brown, Stuart; Silverdale, Monty; Hardy, John; Bhatia, Kailash P.
Journal:
Movement disorders
Issue:
Volume 29:Issue 2(2014)
Page Start:
245
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100, 000 Genomes Project clinical diagnostic pipeline. Issue 12 (17th April 2020)

Authors:
Clarke, Jessica M; Alikian, Mary; Xiao, Sihao; Kasperaviciute, Dalia; Thomas, Ellen; Turbin, Isobel; Olupona, Kike; Cifra, Elna; Curetean, Emanuel; Ferguson, Teena; Redhead, Julian; Shovlin, Claire L
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 12(2020)
Page Start:
859
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Target enrichment and high‐throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond‐Blackfan anaemia. (30th May 2013)

Authors:
Gerrard, Gareth; Valgañón, Mikel; Foong, Hui En; Kasperaviciute, Dalia; Iskander, Deena; Game, Laurence; Müller, Michael; Aitman, Timothy J.; Roberts, Irene; de la, Josu; Foroni, Letizia; Karadimitris, Anastasios
Journal:
British journal of haematology
Issue:
Volume 162:Number 4(2013:Aug.)
Page Start:
530
Record Type:
Journal Article
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4. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Issue 3 (March 2022)

Authors:
Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Chinnery, Patrick F; Houlden, Henry; Rendon, Augu...
Journal:
Lancet neurology
Issue:
Volume 21:Issue 3(2022)
Page Start:
234
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Issue 3 (March 2022)

Authors:
Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Chinnery, Patrick F; Houlden, Henry; Rendon, Augu...
Journal:
Lancet neurology
Issue:
Volume 21:Issue 3(2022)
Page Start:
234
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗