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

por Need, Anna C, Kasperavičiūtė, Dalia, Cirulli, Elizabeth T, Goldstein, David B
Publicado 2009

Neuropathology of 16p13.11 Deletion in Epilepsy

por Liu, Joan Y. W., Kasperavičiūtė, Dalia, Martinian, Lillian, Thom, Maria, Sisodiya, Sanjay M.
Publicado 2012

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

por Chen, Xiao, Harting, John, Farrow, Emily, Thiffault, Isabelle, Kasperaviciute, Dalia, Hoischen, Alexander, Gilissen, Christian, Pastinen, Tomi, Eberle, Michael A.
Publicado 2023

Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities

por Galizia, Elizabeth C., Srikantha, Maithili, Palmer, Rodger, Waters, Jonathan J., Lench, Nicholas, Ogilvie, Caroline Mackie, Kasperavičiūtė, Dalia, Nashef, Lina, Sisodiya, Sanjay M.
Publicado 2012

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

por Mok, Kin Y, Schneider, Susanne A, Trabzuni, Daniah, Stamelou, Maria, Edwards, Mark, Kasperaviciute, Dalia, Pickering-Brown, Stuart, Silverdale, Monty, Hardy, John, Bhatia, Kailash P
Publicado 2014

Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipe...

por 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
Publicado 2020

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

por Bick, David, Ahmed, Arzoo, Deen, Dasha, Ferlini, Alessandra, Garnier, Nicolas, Kasperaviciute, Dalia, Leblond, Mathilde, Pichini, Amanda, Rendon, Augusto, Satija, Aditi, Tuff-Lacey, Alice, Scott, Richard H.
Publicado 2022

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

por Pichini, Amanda, Ahmed, Arzoo, Patch, Christine, Bick, David, Leblond, Mathilde, Kasperaviciute, Dalia, Deen, Dasha, Wilde, Simon, Garcia Noriega, Sofia, Matoko, Christella, Tuff-Lacey, Alice, Wigley, Chris, Scott, Richard H.
Publicado 2022

Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery

por Catarino, Claudia B, Kasperavičiūtė, Dalia, Thom, Maria, Cavalleri, Gianpiero L, Martinian, Lillian, Heinzen, Erin L, Dorn, Thomas, Grunwald, Thomas, Chaila, Elijah, Depondt, Chantal, Krämer, Günter, Delanty, Norman, Goldstein, David B, Sisodiya, Sanjay M
Publicado 2011

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

por Kasperavičiūtė, Dalia, Catarino, Claudia B., Chinthapalli, Krishna, Clayton, Lisa M. S., Thom, Maria, Martinian, Lillian, Cohen, Hannah, Adalat, Shazia, Bockenhauer, Detlef, Pope, Simon A., Lench, Nicholas, Koltzenburg, Martin, Duncan, John S., Hammond, Peter, Hennekam, Raoul C. M., Land, John M., Sisodiya, Sanjay M.
Publicado 2011

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

por Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Black, Graeme C, Ellingford, Jamie M
Publicado 2023

Clinical and genetic variability in children with partial albinism

por Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., Sergouniotis, Panagiotis I.
Publicado 2019

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

por 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, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna
Publicado 2022

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

por Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M., Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cirak, Sebahattin, Williams, Richard, Achermann, John C., Anderson, John, Kelsell, David, Vulliamy, Tom, Houlden, Henry, Wood, Nicholas, Sheerin, Una, Tonini, Gian Paolo, Mackay, Donna, Hussain, Khalid, Sowden, Jane, Kinsler, Veronica, Osinska, Justyna, Brooks, Tony, Hubank, Mike, Beales, Philip, Stupka, Elia
Publicado 2012

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

por Need, Anna C., Ge, Dongliang, Weale, Michael E., Maia, Jessica, Feng, Sheng, Heinzen, Erin L., Shianna, Kevin V., Yoon, Woohyun, Kasperavičiūtė, Dalia, Gennarelli, Massimo, Strittmatter, Warren J., Bonvicini, Cristian, Rossi, Giuseppe, Jayathilake, Karu, Cola, Philip A., McEvoy, Joseph P., Keefe, Richard S. E., Fisher, Elizabeth M. C., St. Jean, Pamela L., Giegling, Ina, Hartmann, Annette M., Möller, Hans-Jürgen, Ruppert, Andreas, Fraser, Gillian, Crombie, Caroline, Middleton, Lefkos T., St. Clair, David, Roses, Allen D., Muglia, Pierandrea, Francks, Clyde, Rujescu, Dan, Meltzer, Herbert Y., Goldstein, David B.
Publicado 2009

Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

por Need, Anna C., Ge, Dongliang, Weale, Michael E., Maia, Jessica, Feng, Sheng, Heinzen, Erin L., Shianna, Kevin V., Yoon, Woohyun, Kasperavičiūtė, Dalia, Gennarelli, Massimo, Strittmatter, Warren J., Bonvicini, Cristian, Rossi, Giuseppe, Jayathilake, Karu, Cola, Philip A., McEvoy, Joseph P., Keefe, Richard S. E., Fisher, Elizabeth M. C., St. Jean, Pamela L., Giegling, Ina, Hartmann, Annette M., Möller, Hans-Jürgen, Ruppert, Andreas, Fraser, Gillian, Crombie, Caroline, Middleton, Lefkos T., St. Clair, David, Roses, Allen D., Muglia, Pierandrea, Francks, Clyde, Rujescu, Dan, Meltzer, Herbert Y., Goldstein, David B.
Publicado 2009

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency

por Afzali, Behdad, Grönholm, Juha, Vandrovcova, Jana, O’Brien, Charlotte, Sun, Hong-Wei, Vanderleyden, Ine, Davis, Fred P, Khoder, Ahmad, Zhang, Yu, Hegazy, Ahmed N, Villarino, Alejandro V, Palmer, Ira W, Kaufman, Joshua, Watts, Norman R, Kazemian, Majid, Kamenyeva, Olena, Keith, Julia, Sayed, Anwar, Kasperaviciute, Dalia, Mueller, Michael, Hughes, Jason D., Fuss, Ivan J., Sadiyah, Mohammed F, Montgomery-Recht, Kim, McElwee, Joshua, Restifo, Nicholas P, Strober, Warren, Linterman, Michelle A, Wingfield, Paul T, Uhlig, Holm H, Roychoudhuri, Rahul, Aitman, Timothy J., Kelleher, Peter, Lenardo, Michael J, O’Shea, John J, Cooper, Nichola, Laurence, Arian DJ
Publicado 2017

The genetic basis of DOORS syndrome: an exome-sequencing study

por Campeau, Philippe M, Kasperaviciute, Dalia, Lu, James T, Burrage, Lindsay C, Kim, Choel, Hori, Mutsuki, Powell, Berkley R, Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D V, Begleiter, Michael L, De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L, Repetto, Gabriela M, Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C, Gibbs, Richard A, Lee, Brendan H, Sisodiya, Sanjay M
Publicado 2014

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

por Kasperavičiūtė, Dalia, Catarino, Claudia B., Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Caboclo, Luis O., Tate, Sarah K., Jamnadas-Khoda, Jenny, Chinthapalli, Krishna, Clayton, Lisa M.S., Shianna, Kevin V., Radtke, Rodney A., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Alhusaini, Saud, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Heuser, Kjell, Amos, Leslie, Ortega, Marcos, Zumsteg, Dominik, Wieser, Heinz-Gregor, Steinhoff, Bernhard J., Krämer, Günter, Hansen, Jörg, Dorn, Thomas, Kantanen, Anne-Mari, Gjerstad, Leif, Peuralinna, Terhi, Hernandez, Dena G., Eriksson, Kai J., Kälviäinen, Reetta K., Doherty, Colin P., Wood, Nicholas W., Pandolfo, Massimo, Duncan, John S., Sander, Josemir W., Delanty, Norman, Goldstein, David B., Sisodiya, Sanjay M.
Publicado 2010

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

por Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Publicado 2013