Clinical and genetic features of Huntington disease in Sri Lanka

di Sumathipala, Dulika S, Jayasekara, Rohan W, Dissanayake, Vajira HW
Pubblicazione 2013

17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome

di Sumathipala, Dulika S., Mandawala, Eranda N., Sumanasena, Samanmalee P., Dissanayake, Vajira H. W.
Pubblicazione 2015

An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report

di Sumathipala, Dulika, Gamage, Thilini, Wijesiriwardena, Bandula, Jayasekara, Rohan W., Dissanayake, Vajira H.W.
Pubblicazione 2012

Autosomal dominant hereditary ataxia in Sri Lanka

di Sumathipala, Dulika S, Abeysekera, Gayan S, Jayasekara, Rohan W, Tallaksen, Chantal ME, Dissanayake, Vajira HW
Pubblicazione 2013

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

di Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik
Pubblicazione 2020

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

di Misceo, Doriana, Lirussi, Lisa, Strømme, Petter, Sumathipala, Dulika, Guerin, Andrea, Wolf, Nicole I, Server, Andres, Stensland, Maria, Dalhus, Bjørn, Tolun, Aslıhan, Kroes, Hester Y, Nyman, Tuula A, Nilsen, Hilde L, Frengen, Eirik
Pubblicazione 2023

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

di Sumathipala, Dulika, Strømme, Petter, Fattahi, Zohreh, Lüders, Torben, Sheng, Ying, Kahrizi, Kimia, Einarsen, Ingunn Holm, Sloan, Jennifer L, Najmabadi, Hossein, van den Heuvel, Lambert, Wevers, Ron A, Guerrero-Castillo, Sergio, Mørkrid, Lars, Valayannopoulos, Vassili, Backe, Paul Hoff, Venditti, Charles P, van Karnebeek, Clara D, Nilsen, Hilde, Frengen, Eirik, Misceo, Doriana
Pubblicazione 2022

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

di Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana
Pubblicazione 2020

GENCODE: reference annotation for the human and mouse genomes in 2023

di Frankish, Adam, Carbonell-Sala, Sílvia, Diekhans, Mark, Jungreis, Irwin, Loveland, Jane E, Mudge, Jonathan M, Sisu, Cristina, Wright, James C, Arnan, Carme, Barnes, If, Banerjee, Abhimanyu, Bennett, Ruth, Berry, Andrew, Bignell, Alexandra, Boix, Carles, Calvet, Ferriol, Cerdán-Vélez, Daniel, Cunningham, Fiona, Davidson, Claire, Donaldson, Sarah, Dursun, Cagatay, Fatima, Reham, Giorgetti, Stefano, Giron, Carlos Garcıa, Gonzalez, Jose Manuel, Hardy, Matthew, Harrison, Peter W, Hourlier, Thibaut, Hollis, Zoe, Hunt, Toby, James, Benjamin, Jiang, Yunzhe, Johnson, Rory, Kay, Mike, Lagarde, Julien, Martin, Fergal J, Gómez, Laura Martínez, Nair, Surag, Ni, Pengyu, Pozo, Fernando, Ramalingam, Vivek, Ruffier, Magali, Schmitt, Bianca M, Schreiber, Jacob M, Steed, Emily, Suner, Marie-Marthe, Sumathipala, Dulika, Sycheva, Irina, Uszczynska-Ratajczak, Barbara, Wass, Elizabeth, Yang, Yucheng T, Yates, Andrew, Zafrulla, Zahoor, Choudhary, Jyoti S, Gerstein, Mark, Guigo, Roderic, Hubbard, Tim J P, Kellis, Manolis, Kundaje, Anshul, Paten, Benedict, Tress, Michael L, Flicek, Paul
Pubblicazione 2022

Ensembl 2022

di Cunningham, Fiona, Allen, James E, Allen, Jamie, Alvarez-Jarreta, Jorge, Amode, M Ridwan, Armean, Irina M, Austine-Orimoloye, Olanrewaju, Azov, Andrey G, Barnes, If, Bennett, Ruth, Berry, Andrew, Bhai, Jyothish, Bignell, Alexandra, Billis, Konstantinos, Boddu, Sanjay, Brooks, Lucy, Charkhchi, Mehrnaz, Cummins, Carla, Da Rin Fioretto, Luca, Davidson, Claire, Dodiya, Kamalkumar, Donaldson, Sarah, El Houdaigui, Bilal, El Naboulsi, Tamara, Fatima, Reham, Giron, Carlos Garcia, Genez, Thiago, Martinez, Jose Gonzalez, Guijarro-Clarke, Cristina, Gymer, Arthur, Hardy, Matthew, Hollis, Zoe, Hourlier, Thibaut, Hunt, Toby, Juettemann, Thomas, Kaikala, Vinay, Kay, Mike, Lavidas, Ilias, Le, Tuan, Lemos, Diana, Marugán, José Carlos, Mohanan, Shamika, Mushtaq, Aleena, Naven, Marc, Ogeh, Denye N, Parker, Anne, Parton, Andrew, Perry, Malcolm, Piližota, Ivana, Prosovetskaia, Irina, Sakthivel, Manoj Pandian, Salam, Ahamed Imran Abdul, Schmitt, Bianca M, Schuilenburg, Helen, Sheppard, Dan, Pérez-Silva, José G, Stark, William, Steed, Emily, Sutinen, Kyösti, Sukumaran, Ranjit, Sumathipala, Dulika, Suner, Marie-Marthe, Szpak, Michal, Thormann, Anja, Tricomi, Francesca Floriana, Urbina-Gómez, David, Veidenberg, Andres, Walsh, Thomas A, Walts, Brandon, Willhoft, Natalie, Winterbottom, Andrea, Wass, Elizabeth, Chakiachvili, Marc, Flint, Bethany, Frankish, Adam, Giorgetti, Stefano, Haggerty, Leanne, Hunt, Sarah E, IIsley, Garth R, Loveland, Jane E, Martin, Fergal J, Moore, Benjamin, Mudge, Jonathan M, Muffato, Matthieu, Perry, Emily, Ruffier, Magali, Tate, John, Thybert, David, Trevanion, Stephen J, Dyer, Sarah, Harrison, Peter W, Howe, Kevin L, Yates, Andrew D, Zerbino, Daniel R, Flicek, Paul
Pubblicazione 2021

Ensembl 2023

di Martin, Fergal J, Amode, M Ridwan, Aneja, Alisha, Austine-Orimoloye, Olanrewaju, Azov, Andrey G, Barnes, If, Becker, Arne, Bennett, Ruth, Berry, Andrew, Bhai, Jyothish, Bhurji, Simarpreet Kaur, Bignell, Alexandra, Boddu, Sanjay, Branco Lins, Paulo R, Brooks, Lucy, Ramaraju, Shashank Budhanuru, Charkhchi, Mehrnaz, Cockburn, Alexander, Da Rin Fiorretto, Luca, Davidson, Claire, Dodiya, Kamalkumar, Donaldson, Sarah, El Houdaigui, Bilal, El Naboulsi, Tamara, Fatima, Reham, Giron, Carlos Garcia, Genez, Thiago, Ghattaoraya, Gurpreet S, Martinez, Jose Gonzalez, Guijarro, Cristi, Hardy, Matthew, Hollis, Zoe, Hourlier, Thibaut, Hunt, Toby, Kay, Mike, Kaykala, Vinay, Le, Tuan, Lemos, Diana, Marques-Coelho, Diego, Marugán, José Carlos, Merino, Gabriela Alejandra, Mirabueno, Louisse Paola, Mushtaq, Aleena, Hossain, Syed Nakib, Ogeh, Denye N, Sakthivel, Manoj Pandian, Parker, Anne, Perry, Malcolm, Piližota, Ivana, Prosovetskaia, Irina, Pérez-Silva, José G, Salam, Ahamed Imran Abdul, Saraiva-Agostinho, Nuno, Schuilenburg, Helen, Sheppard, Dan, Sinha, Swati, Sipos, Botond, Stark, William, Steed, Emily, Sukumaran, Ranjit, Sumathipala, Dulika, Suner, Marie-Marthe, Surapaneni, Likhitha, Sutinen, Kyösti, Szpak, Michal, Tricomi, Francesca Floriana, Urbina-Gómez, David, Veidenberg, Andres, Walsh, Thomas A, Walts, Brandon, Wass, Elizabeth, Willhoft, Natalie, Allen, Jamie, Alvarez-Jarreta, Jorge, Chakiachvili, Marc, Flint, Bethany, Giorgetti, Stefano, Haggerty, Leanne, Ilsley, Garth R, Loveland, Jane E, Moore, Benjamin, Mudge, Jonathan M, Tate, John, Thybert, David, Trevanion, Stephen J, Winterbottom, Andrea, Frankish, Adam, Hunt, Sarah E, Ruffier, Magali, Cunningham, Fiona, Dyer, Sarah, Finn, Robert D, Howe, Kevin L, Harrison, Peter W, Yates, Andrew D, Flicek, Paul
Pubblicazione 2022