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Kasperavičiūtė, Dalia
145  results:
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1

Secondary (additional) findings from the 100,000 Genomes Pr..:

Nolan, Joshua ; Buchanan, James ; Taylor, John...
Genetics in Medicine.  26 (2024)  3 - p. 101051 , 2024
Link: https://doi.org/10.1016/..
 
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2

Copy-number analysis from genome sequencing data of 11,754 ..:

Olinger, Eric ; Wilson, Ian J. ; Orr, Sarah...
Genetics in Medicine Open.  2 (2024)  - p. 101834 , 2024
Link: https://doi.org/10.1016/..
 
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3

EyeG2P: an automated variant filtering approach improves ef..:

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja...
Journal of Medical Genetics.  60 (2023)  8 - p. 810-818 , 2023
Link: https://doi.org/10.1136/..
 
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4

Comprehensive SMN1 and SMN2 profiling for spinal muscular a..:

Chen, Xiao ; Harting, John ; Farrow, Emily...
The American Journal of Human Genetics.  110 (2023)  2 - p. 240-250 , 2023
Link: https://doi.org/10.1016/..
 
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5

Widespread genomic influences on phenotype in Dravet syndro..:

Martins Custodio, Helena ; Clayton, Lisa M ; Bellampalli, Ravishankara...
Brain.  146 (2023)  9 - p. 3885-3897 , 2023
Link: https://doi.org/10.1093/..
 
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6

Rare variants in the sodium-dependent phosphate transporter..:

Sadeghi-Alavijeh, Omid ; Chan, Melanie M.Y. ; Moochhala, Shabbir H....
Kidney International.  104 (2023)  5 - p. 975-984 , 2023
Link: https://doi.org/10.1016/..
 
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7

Whole genome sequencing for the diagnosis of neurological r..:

Ibañez, Kristina ; Polke, James ; Hagelstrom, R Tanner...
The Lancet Neurology.  21 (2022)  3 - p. 234-245 , 2022
Link: https://doi.org/10.1016/..
 
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8

Newborn Screening by Genomic Sequencing: Opportunities and ..:

Bick, David ; Ahmed, Arzoo ; Deen, Dasha...
International Journal of Neonatal Screening.  8 (2022)  3 - p. 40 , 2022
Link: https://doi.org/10.3390/..
 
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9

Developing a National Newborn Genomes Program: An Approach ..:

Pichini, Amanda ; Ahmed, Arzoo ; Patch, Christine...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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10

Low grade mosaicism in hereditary haemorrhagic telangiectas..:

Clarke, Jessica M ; Alikian, Mary ; Xiao, Sihao...
Journal of Medical Genetics.  57 (2020)  12 - p. 859-862 , 2020
Link: https://doi.org/10.1136/..
 
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11

Clinical and genetic variability in children with partial a..:

Campbell, Patrick ; Ellingford, Jamie M. ; Parry, Neil R. A....
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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12

PanelApp crowdsources expert knowledge to establish consens..:

Martin, Antonio Rueda ; Williams, Eleanor ; Foulger, Rebecca E....
Nature Genetics.  51 (2019)  11 - p. 1560-1565 , 2019
Link: https://doi.org/10.1038/..
 
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13

The genetic basis of DOORS syndrome: an exome-sequencing st..:

Campeau, Philippe M ; Kasperaviciute, Dalia ; Lu, James T...
The Lancet Neurology.  13 (2014)  1 - p. 44-58 , 2014
Link: https://doi.org/10.1016/..
 
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14

Epilepsy, hippocampal sclerosis and febrile seizures linked..:

Kasperavičiūtė, Dalia ; Catarino, Claudia B. ; Matarin, Mar...
Brain.  136 (2013)  10 - p. 3140-3150 , 2013
Link: https://doi.org/10.1093/..
 
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15

Genomewide association study in cervical dystonia demonstra..:

Mok, Kin Y. ; Schneider, Susanne A. ; Trabzuni, Daniah...
Movement Disorders.  29 (2013)  2 - p. 245-251 , 2013
Link: https://doi.org/10.1002/..
 
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