Clinical and genetic features of Huntington disease in Sri Lanka

Autor Sumathipala, Dulika S, Jayasekara, Rohan W, Dissanayake, Vajira HW
Vydáno 2013

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

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

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

Autor Sumathipala, Dulika, Gamage, Thilini, Wijesiriwardena, Bandula, Jayasekara, Rohan W., Dissanayake, Vajira H.W.
Vydáno 2012

Autosomal dominant hereditary ataxia in Sri Lanka

Autor Sumathipala, Dulika S, Abeysekera, Gayan S, Jayasekara, Rohan W, Tallaksen, Chantal ME, Dissanayake, Vajira HW
Vydáno 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

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

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

Autor 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
Vydáno 2023

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

Autor 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
Vydáno 2022

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

Autor 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
Vydáno 2020

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

Autor 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
Vydáno 2022

Ensembl 2022

Autor 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
Vydáno 2021

Ensembl 2023

Autor 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
Vydáno 2022