Publications: Dr Dalia Seaborne
Abou-Khalil B, Auce P, Avbersek A, Bahlo M, Balding DJ, Bast T, Baum L, Becker AJ et al.(2018).
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nature Communications
vol. 9,
(1)
Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A et al.(2017).
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nature Immunology
vol. 18,
(7)
813-823.
Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC et al.(2017).
Novel genetic loci associated with hippocampal volume. Nat Commun
vol. 8,
13624-13624.
Adams HHH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A et al.(2016).
Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience
vol. 19,
(12)
1569-1582.
Alikian M, Ellery P, Forbes M, Gerrard G, Kasperaviciute D, Sosinsky A, Mueller M, Whale AS et al.(2016).
Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia Patients. Journal of Molecular Diagnostics
vol. 18,
(2)
176-189.
Franke B, van Hulzen KJE, Arias-Vasquez A, Bralten J, Hoogman M, Klein M, van Donkelaar MMJ, Hakobjan MMH et al.(2016).
Genetic influences on schizophrenia and subcortical brain volumes: Large-scale proof of concept. Nature Neuroscience
vol. 19,
(3)
420-431.
Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K et al.(2015).
Common genetic variants influence human subcortical brain structures. Nature
vol. 520,
(7546)
224-229.
Alikian M, Ellery P, Forbes M, Gerrard G, Mueller M, Sosinsky A, Kasperaviciute D, Takousis P et al. (2014).
NGS-ASSISTED DNA-BASED DIGITAL QPCR FOR THE DETECTION AND QUANTIFICATION OF RESIDUAL DISEASE IN CML PATIENTS WITH UNDETECTABLE BCR-ABL1 TRANSCRIPTS. HAEMATOLOGICA.
vol. 99,
75-75.
Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M et al.(2014).
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Movement Disorders
vol. 29,
(2)
245-251.
Anney RJL, Avbersek A, Balding D, Baum L, Becker F, Berkovic SF, Bradfi JP, Brody LC et al.(2014).
Genetic determinants of common epilepsies: A meta-analysis of genome-wide association studies. The Lancet Neurology
vol. 13,
(9)
893-903.
Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N et al.(2014).
The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging and Behavior
vol. 8,
(2)
153-182.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F et al.(2014).
The genetic basis of DOORS syndrome: An exome-sequencing study. The Lancet Neurology
vol. 13,
(1)
44-58.
Wilkins MR, Aldashev AA, Wharton J, Rhodes CJ, Vandrovcova J, Kasperaviciute D, Bhosle SG, Mueller M et al.(2014).
α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among kyrgyz highlanders. Circulation: Cardiovascular Genetics
vol. 7,
(6)
920-929.
Vandrovcova J, Thomas ERA, Atanur SS, Norsworthy PJ, Neuwirth C, Tan Y, Kasperaviciute D, Biggs J et al.(2013).
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. Genetics in Medicine
vol. 15,
(12)
948-957.
Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, Müller M, Aitman TJ et al.(2013).
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. British Journal of Haematology
vol. 162,
(4)
530-536.
Kasperavi¿iute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EVS et al.(2013).
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain
vol. 136,
(10)
3140-3150.
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavi¿iute D, Williams J et al.(2012).
Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes. PLoS ONE
vol. 7,
(12)
Gerrard G, Valganon M, Foong HE, Kasperaviciute D, Mueller M, Game L, Iskander D, Roberts I et al. (2012).
Target Enrichment and High-Throughput Sequencing of 80 Ribosomal Protein Genes to Identify Mutations Associated with Diamond-Blackfan Anaemia. BLOOD.
vol. 120,
Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F et al.(2012).
A common single-nucleotide variant in T is strongly associated with chordoma. Nature Genetics
vol. 44,
(11)
1185-1187.
Ingram CJE, Weale ME, Plaster CA, Morrison KE, Goodall EF, Pall HS, Beck M, Jablonka S et al.(2012).
Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis
vol. 13,
(4)
341-346.
Mok KY, Kasperaviciute D, Schneider SA, Pickering-Brown SM, Silverdale M, Edwards MJ, Bhatia KP, Hardy J (2012).
Genome wide association study in cervical dystonia. MOVEMENT DISORDERS.
vol. 27,
S464-S464.
Galizia EC, Srikantha M, Palmer R, Waters JJ, Lench N, Ogilvie CM, Kasperavi¿i¿t¿ D, Nashef L et al.(2012).
Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities. Eur J Med Genet
vol. 55,
(5)
342-348.
Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K et al.(2012).
Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics
vol. 44,
(5)
552-561.
Liu JYW, Kasperavi¿iute D, Martinian L, Thom M, Sisodiya SM(2012).
Neuropathology of 16p13.11 deletion in epilepsy. PLoS ONE
vol. 7,
(4)
McCormack M, Urban TJ, Shianna KV, Walley N, Pandolfo M, Depondt C, Chaila E, O'Conner GD et al.(2012).
Genome-wide mapping for clinically relevant predictors of lamotrigine-and phenytoin-induced hypersensitivity reactions. Pharmacogenomics
vol. 13,
(4)
399-405.
Catarino CB, Kasperavi¿iute D, Thom M, Cavalleri GL, Martinian L, Heinzen EL, Dorn T, Grunwald T et al.(2011).
Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery. Epilepsia
vol. 52,
(8)
1388-1392.
McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperavi¿iute D, Carrington M, Sills GJ, Marson T et al.(2011).
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. New England Journal of Medicine
vol. 364,
(12)
1134-1143.
Kasperavi¿iute D, Catarino CB, Chinthapalli K, Clayton LMS, Thom M, Martinian L, Cohen H, Adalat S et al.(2011).
Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions. PLoS ONE
vol. 6,
(8)
Kasperavi¿iüte D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, Tate SK, Jamnadas-Khoda J et al.(2010).
Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study. Brain
vol. 133,
(7)
2136-2147.
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P et al.(2010).
Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes. American Journal of Human Genetics
vol. 86,
(5)
707-718.
Chaudhry AS, Urban TJ, Lamba JK, Birnbaum AK, Remmel RP, Subramanian M, Strom S, You JH et al.(2010).
CYP2C9*1B promoter polymorphisms, in linkage with CYP2C19*2, affect phenytoin autoinduction of clearance and maintenance dose. Journal of Pharmacology and Experimental Therapeutics
vol. 332,
(2)
599-611.
Cirulli ET, Kasperavi¿i¿t D, Attix DK, Need AC, Ge D, Gibson G, Goldstein DB(2010).
Common genetic variation and performance on standardized cognitive tests. European Journal of Human Genetics
vol. 18,
(7)
815-820.
Kasperavi¿iuté D, Sisodiya SM(2009).
Epilepsy pharmacogenetics. Pharmacogenomics
vol. 10,
(5)
817-836.
Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC et al.(2009).
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics
vol. 18,
(8)
1524-1532.
Need AC, Kasperavi¿i¿te D, Cirulli ET, Goldstein DB(2009).
A 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 Biology
vol. 10,
(1)
Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, Shianna KV, Yoon W et al.(2009).
A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genetics
vol. 5,
(2)
Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V et al.(2009).
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology
vol. 73,
(1)
16-24.
Kasperavi¿iute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, Turner MR, Shaw CE et al.(2007).
Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain
vol. 130,
(9)
2292-2301.
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M et al.(2007).
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurology
vol. 6,
(4)
322-328.
Kasperaviciute D, Kucinkas D, Stoneking M(2005).
Y chromosome and mitochondrial DNA variation in Lithuanians (vol 68, pg 438, 2004). ANNALS OF HUMAN GENETICS
vol. 69,
499-499.
Kasperavi¿iute D, Ku¿inskas V, Stoneking M(2004).
Y chromosome and mitochondrial DNA variation in Lithuanians. Annals of Human Genetics
vol. 68,
(5)
438-452.
Kucinskas V, Kasperaviciute D, Ambrasiene D, Stoneking M (2003).
Y chromosome and mitochondrial DNA variation and the origin of Lithuanians. AMERICAN JOURNAL OF HUMAN GENETICS.
vol. 73,
379-379.
Kasperavi¿iute D, Ku¿inskas V(2002).
Variability of the human mitochondrial DNA control region sequences in the Lithuanian population. Journal of Applied Genetics
vol. 43,
(2)
255-260.
Benusiene E, Kucinskas V, Slibinskas R, Kasperaviciute D (2002).
Clinical and molecular characterisation of Osteogenesis imperfecta in patients from Lithuania. EUROPEAN JOURNAL OF HUMAN GENETICS.
vol. 10,
242-242.
Kasperaviciute D, Kucinskas V (2002).
Human mitochondrial DNA control region sequence variations in Lithuanian population. EUROPEAN JOURNAL OF HUMAN GENETICS.
vol. 10,
175-175.
Kucinskas V, Benusiene E, Kasperaviciute D, Slibinskas R (2001).
Identification of novel mutations in the COL1A1 gene. AMERICAN JOURNAL OF HUMAN GENETICS.
vol. 69,
593-593.