日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

GENCODE 2025: reference gene annotation for human and mouse

GENCODE 2025:人类和小鼠的参考基因注释

Mudge, Jonathan M; Carbonell-Sala, Sílvia; Diekhans, Mark; Martinez, Jose Gonzalez; Hunt, Toby; Jungreis, Irwin; Loveland, Jane E; Arnan, Carme; Barnes, If; Bennett, Ruth; Berry, Andrew; Bignell, Alexandra; Cerdán-Vélez, Daniel; Cochran, Kelly; Cortés, Lucas T; Davidson, Claire; Donaldson, Sarah; Dursun, Cagatay; Fatima, Reham; Hardy, Matthew; Hebbar, Prajna; Hollis, Zoe; James, Benjamin T; Jiang, Yunzhe; Johnson, Rory; Kaur, Gazaldeep; Kay, Mike; Mangan, Riley J; Maquedano, Miguel; Gómez, Laura Martínez; Mathlouthi, Nourhen; Merritt, Ryan; Ni, Pengyu; Palumbo, Emilio; Perteghella, Tamara; Pozo, Fernando; Raj, Shriya; Sisu, Cristina; Steed, Emily; Sumathipala, Dulika; Suner, Marie-Marthe; Uszczynska-Ratajczak, Barbara; Wass, Elizabeth; Yang, Yucheng T; Zhang, Dingyao; Finn, Robert D; Gerstein, Mark; Guigó, Roderic; Hubbard, Tim J P; Kellis, Manolis; Kundaje, Anshul; Paten, Benedict; Tress, Michael L; Birney, Ewan; Martin, Fergal J; Frankish, Adam

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

GENCODE:2023 年人类和小鼠基因组参考注释

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

Ensembl 2023

2023年合奏

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

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

纯合 POLR1A 变异会导致脑白质营养不良并影响蛋白质稳态

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

Ensembl 2022

2022年合奏

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

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

ZBTB11功能障碍:脑部异常谱、生化特征和细胞后果

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

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

CBY1 缺失导致以 Joubert 综合征为特征的纤毛病

Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma M Larsen, Julia Wallmeier, Diana Bracht, Kari-Anne M Frikstad, Suzanne Crowley, Alma Sikiric, Tuva Barøy, Barbara Käsmann-Kellner, Eva Decker, Christian Decker, Nadine Bachmann, Sebastian Patzke, Ian

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

利用全基因组测序数据中的SNV/indel和结构变异分析流程诊断Joubert综合征23型患者癫痫猝死和异位神经垂体:病例报告

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

A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease

亨廷顿病等位基因特异性 HTT 抑制的综合单倍型靶向策略

Chris Kay, Jennifer A Collins, Nicholas S Caron, Luciana de Andrade Agostinho, Hailey Findlay-Black, Lorenzo Casal, Dulika Sumathipala, Vajira H W Dissanayake, Mario Cornejo-Olivas, Fiona Baine, Amanda Krause, Jacquie L Greenberg, Carmen Lúcia Antão Paiva, Ferdinando Squitieri, Michael R Hayden

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

在一名被诊断患有波托基-卢普斯基综合征的女孩体内检测到17p11.2和Xq28重复。

Sumathipala, Dulika S; Mandawala, Eranda N; Sumanasena, Samanmalee P; Dissanayake, Vajira H W