Clinical and genetic features of Huntington disease in Sri Lanka

由 Sumathipala, Dulika S, Jayasekara, Rohan W, Dissanayake, Vajira HW
出版 2013

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

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

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

由 Sumathipala, Dulika, Gamage, Thilini, Wijesiriwardena, Bandula, Jayasekara, Rohan W., Dissanayake, Vajira H.W.
出版 2012

Autosomal dominant hereditary ataxia in Sri Lanka

由 Sumathipala, Dulika S, Abeysekera, Gayan S, Jayasekara, Rohan W, Tallaksen, Chantal ME, Dissanayake, Vajira HW
出版 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

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

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

由 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
出版 2023

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

由 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
出版 2022

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

由 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
出版 2020

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

由 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
出版 2022

Ensembl 2022

由 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
出版 2021

Ensembl 2023

由 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
出版 2022