Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Dulika Sumathipala"'
Autor:
Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular h
Externí odkaz:
https://doaj.org/article/f92a324c5fd24435bbc9013132144230
Autor:
Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen
Publikováno v:
Brain.
RNA polymerase I transcribes ribosomal DNA to produce precursor 47S rRNA. Post-transcriptional processing of this rRNA generates mature 28S, 18S and 5.8S rRNAs, which form the ribosomes, together with 5S rRNA, assembly factors and ribosomal proteins.
Autor:
Fiona Cunningham, James E Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Olanrewaju Austine-Orimoloye, Andrey G Azov, If Barnes, Ruth Bennett, Andrew Berry, Jyothish Bhai, Alexandra Bignell, Konstantinos Billis, Sanjay Boddu, Lucy Brooks, Mehrnaz Charkhchi, Carla Cummins, Luca Da Rin Fioretto, Claire Davidson, Kamalkumar Dodiya, Sarah Donaldson, Bilal El Houdaigui, Tamara El Naboulsi, Reham Fatima, Carlos Garcia Giron, Thiago Genez, Jose Gonzalez Martinez, Cristina Guijarro-Clarke, Arthur Gymer, Matthew Hardy, Zoe Hollis, Thibaut Hourlier, Toby Hunt, Thomas Juettemann, Vinay Kaikala, Mike Kay, Ilias Lavidas, Tuan Le, Diana Lemos, José Carlos Marugán, Shamika Mohanan, Aleena Mushtaq, Marc Naven, Denye N Ogeh, Anne Parker, Andrew Parton, Malcolm Perry, Ivana Piližota, Irina Prosovetskaia, Manoj Pandian Sakthivel, Ahamed Imran Abdul Salam, Bianca M Schmitt, Helen Schuilenburg, Dan Sheppard, José G Pérez-Silva, William Stark, Emily Steed, Kyösti Sutinen, Ranjit Sukumaran, Dulika Sumathipala, Marie-Marthe Suner, Michal Szpak, Anja Thormann, Francesca Floriana Tricomi, David Urbina-Gómez, Andres Veidenberg, Thomas A Walsh, Brandon Walts, Natalie Willhoft, Andrea Winterbottom, Elizabeth Wass, Marc Chakiachvili, Bethany Flint, Adam Frankish, Stefano Giorgetti, Leanne Haggerty, Sarah E Hunt, Garth R IIsley, Jane E Loveland, Fergal J Martin, Benjamin Moore, Jonathan M Mudge, Matthieu Muffato, Emily Perry, Magali Ruffier, John Tate, David Thybert, Stephen J Trevanion, Sarah Dyer, Peter W Harrison, Kevin L Howe, Andrew D Yates, Daniel R Zerbino, Paul Flicek
Publikováno v:
Nucleic Acids Research
Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive ann
Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line with both the publicly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::cd11a4cab84aff8df49f51a5acdcc704
https://zenodo.org/record/7705404
https://zenodo.org/record/7705404
Autor:
Adam Frankish, Sílvia Carbonell-Sala, Mark Diekhans, Irwin Jungreis, Jane E Loveland, Jonathan M Mudge, Cristina Sisu, James C Wright, Carme Arnan, If Barnes, Abhimanyu Banerjee, Ruth Bennett, Andrew Berry, Alexandra Bignell, Carles Boix, Ferriol Calvet, Daniel Cerdán-Vélez, Fiona Cunningham, Claire Davidson, Sarah Donaldson, Cagatay Dursun, Reham Fatima, Stefano Giorgetti, Carlos Garcıa Giron, Jose Manuel Gonzalez, Matthew Hardy, Peter W Harrison, Thibaut Hourlier, Zoe Hollis, Toby Hunt, Benjamin James, Yunzhe Jiang, Rory Johnson, Mike Kay, Julien Lagarde, Fergal J Martin, Laura Martínez Gómez, Surag Nair, Pengyu Ni, Fernando Pozo, Vivek Ramalingam, Magali Ruffier, Bianca M Schmitt, Jacob M Schreiber, Emily Steed, Marie-Marthe Suner, Dulika Sumathipala, Irina Sycheva, Barbara Uszczynska-Ratajczak, Elizabeth Wass, Yucheng T Yang, Andrew Yates, Zahoor Zafrulla, Jyoti S Choudhary, Mark Gerstein, Roderic Guigo, Tim J P Hubbard, Manolis Kellis, Anshul Kundaje, Benedict Paten, Michael L Tress, Paul Flicek
Publikováno v:
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; ... (2023). GENCODE: reference annotation for the human and mouse genomes in 2023. Nucleic acids research, 51(D1), D942-D949. Oxford University Press 10.1093/nar/gkac1071
Data availability: No new data were generated or analysed in support of this research. Copyright © The Author(s) 2022. GENCODE produces high quality gene and transcript annotation for the human and mouse genomes. All GENCODE annotation is supported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10247881d8c4fbceb604577e5be9e5ad
Autor:
Fergal J Martin, M Ridwan Amode, Alisha Aneja, Olanrewaju Austine-Orimoloye, Andrey G Azov, If Barnes, Arne Becker, Ruth Bennett, Andrew Berry, Jyothish Bhai, Simarpreet Kaur Bhurji, Alexandra Bignell, Sanjay Boddu, Paulo R Branco Lins, Lucy Brooks, Shashank Budhanuru Ramaraju, Mehrnaz Charkhchi, Alexander Cockburn, Luca Da Rin Fiorretto, Claire Davidson, Kamalkumar Dodiya, Sarah Donaldson, Bilal El Houdaigui, Tamara El Naboulsi, Reham Fatima, Carlos Garcia Giron, Thiago Genez, Gurpreet S Ghattaoraya, Jose Gonzalez Martinez, Cristi Guijarro, Matthew Hardy, Zoe Hollis, Thibaut Hourlier, Toby Hunt, Mike Kay, Vinay Kaykala, Tuan Le, Diana Lemos, Diego Marques-Coelho, José Carlos Marugán, Gabriela Alejandra Merino, Louisse Paola Mirabueno, Aleena Mushtaq, Syed Nakib Hossain, Denye N Ogeh, Manoj Pandian Sakthivel, Anne Parker, Malcolm Perry, Ivana Piližota, Irina Prosovetskaia, José G Pérez-Silva, Ahamed Imran Abdul Salam, Nuno Saraiva-Agostinho, Helen Schuilenburg, Dan Sheppard, Swati Sinha, Botond Sipos, William Stark, Emily Steed, Ranjit Sukumaran, Dulika Sumathipala, Marie-Marthe Suner, Likhitha Surapaneni, Kyösti Sutinen, Michal Szpak, Francesca Floriana Tricomi, David Urbina-Gómez, Andres Veidenberg, Thomas A Walsh, Brandon Walts, Elizabeth Wass, Natalie Willhoft, Jamie Allen, Jorge Alvarez-Jarreta, Marc Chakiachvili, Bethany Flint, Stefano Giorgetti, Leanne Haggerty, Garth R Ilsley, Jane E Loveland, Benjamin Moore, Jonathan M Mudge, John Tate, David Thybert, Stephen J Trevanion, Andrea Winterbottom, Adam Frankish, Sarah E Hunt, Magali Ruffier, Fiona Cunningham, Sarah Dyer, Robert D Finn, Kevin L Howe, Peter W Harrison, Andrew D Yates, Paul Flicek
Publikováno v:
Nucleic Acids Research
Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line with both the publicly
Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive ann
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::af0dde32a1479a0416229c518909561f
https://zenodo.org/record/7688817
https://zenodo.org/record/7688817
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Autor:
Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, Torben Lüders, Ying Sheng, Kimia Kahrizi, Ingunn Holm Einarsen, Jennifer L Sloan, Hossein Najmabadi, Lambert van den Heuvel, Ron A Wevers, Sergio Guerrero-Castillo, Lars Mørkrid, Vassili Valayannopoulos, Paul Hoff Backe, Charles P Venditti, Clara D van Karnebeek, Hilde Nilsen, Eirik Frengen, Doriana Misceo
Publikováno v:
Brain, 145, 7, pp. 2602-2616
Brain, 145(7), 2602-2616. Oxford University Press
Brain, 145, 2602-2616
Brain, 145(7), 2602-2616. Oxford University Press
Brain, 145, 2602-2616
Bi-allelic pathogenic variants in ZBTB11 have been associated with intellectual developmental disorder, autosomal recessive 69 (MRT69; OMIM 618383). We report five patients from three families with novel, bi-allelic variants in ZBTB11. We have expand
Autor:
Gardie Role Malwattage Udara Jayawardena, Krishnapillai Guruparan, Dulika Sumathipala, Udagama Don Ratnasiri, Hemantha Senanayake
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1b4ad7bd8d230e019b3d0be8ac8f40a
https://doi.org/10.22541/au.159318486.61418957
https://doi.org/10.22541/au.159318486.61418957
Autor:
Dulika Sumathipala, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik
Additional file 1. Details of the methods for the genetic investigations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d857246f6f7c13f2001504f7d97be0c