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Author Details

Dalia Kasperaviciute
Genomics England Ltd.
2002
43
28
PMIDPaper TitleJournal TitlePublished Year
36669496Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.Am J Hum Genet2023
37115922The genomic landscape of familial glioma.Sci Adv2023
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
35892470Newborn Screening by Genomic Sequencing: Opportunities and Challenges.Int J Neonatal Screen2022
35711926Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design.Front Genet2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32303606Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.J Med Genet2020
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
31719542Clinical and genetic variability in children with partial albinism.Sci Rep2019
28530713BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.Nat Immunol2017
28098162Novel genetic loci associated with hippocampal volume.Nat Commun2017
26857065Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia Patients.J Mol Diagn2016
27694991Novel genetic loci underlying human intracranial volume identified through genome-wide association.Nat Neurosci2016
25607358Common genetic variants influence human subcortical brain structures.Nature2015
24227479Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.Mov Disord2014
24291220The genetic basis of DOORS syndrome: an exome-sequencing study.Lancet Neurol2014
24399358The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.Brain Imaging Behav2014
23718193Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.Br J Haematol2013
24014518Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.Brain2013
23680767The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.Genet Med2013
22379998Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.Pharmacogenomics2012
23251486Characterisation and validation of insertions and deletions in 173 patient exomes.PLoS One2012
23064415A common single-nucleotide variant in T is strongly associated with chordoma.Nat Genet2012
22504417Identification of common variants associated with human hippocampal and intracranial volumes.Nat Genet2012
22523559Neuropathology of 16p13.11 deletion in epilepsy.PLoS One2012
22342432Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.Eur J Med Genet2012
22409358Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis.Amyotroph Lateral Scler2012
21428769HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.N Engl J Med2011
21858020Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.PLoS One2011
21635232Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.Epilepsia2011
19855097CYP2C9*1B promoter polymorphisms, in linkage with CYP2C19*2, affect phenytoin autoinduction of clearance and maintenance dose.J Pharmacol Exp Ther2010
20522523Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.Brain2010
20125193Common genetic variation and performance on standardized cognitive tests.Eur J Hum Genet2010
20398883Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Am J Hum Genet2010
19321847A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.Neurology2009
19450130Epilepsy pharmacogenetics.Pharmacogenomics2009
19161619A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans.Genome Biol2009
19197363A genome-wide investigation of SNPs and CNVs in schizophrenia.PLoS Genet2009
19193627A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.Hum Mol Genet2009
17439985Large-scale pathways-based association study in amyotrophic lateral sclerosis.Brain2007
17362836Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.Lancet Neurol2007
15469421Y chromosome and mitochondrial DNA variation in Lithuanians.Ann Hum Genet2004
12080181Variability of the human mitochondrial DNA control region sequences in the Lithuanian population.J Appl Genet2002
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Collaborators

Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 18
Chantal Depondt
Hopital Universitaire de Bruxelles - Hopital Erasme
Co-authored papers 11
Gianpiero L Cavalleri
School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
Co-authored papers 11
Norman Delanty
FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
Co-authored papers 10
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
Co-authored papers 10
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 9
Michael E Weale
Co-authored papers 9
Mina Ryten
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 7
Claudia B Catarino
Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
Co-authored papers 6
Erin L Heinzen
University of North Carolina at Chapel Hill.
Co-authored papers 6
Anna C Need
Imperial College London
Co-authored papers 6
Kevin V Shianna
Illumina Inc. 5200 Illumina Way
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Thomas W M??hleisen
Institute of Neuroscience and Medicine (INM-1), Research Center Juelich
Co-authored papers 5
Michael W Weiner
University of California San Francisco
Co-authored papers 5
Jouke-Jan Hottenga
Co-authored papers 5
Neda Jahanshad
University of Southern California
Co-authored papers 5
Ole A Andreassen
Oslo University Hospital & Institute of Clinical Medicine, University of Oslo
Co-authored papers 5
Andrew B Singleton
National Institute on Aging
Co-authored papers 5
Sarah E Medland
Co-authored papers 5
Manuel Mattheisen
Dalhousie University
Co-authored papers 5
Phil H Lee
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 5
Jordan W Smoller
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 5
Li Shen
University of Pennsylvania
Co-authored papers 5
Sungeun Kim
Center for Neuroimaging, Indiana University School of Medicine
Co-authored papers 5
Han G Brunner
Maastricht University Medical Centre
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Andrew J Saykin
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Thomas E Nichols
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Co-authored papers 5
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Release 1.2