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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Real-World Molecular Testing in European Early-Onset Colorectal Cancer

欧洲早发性结直肠癌的真实世界分子检测

Edwards, Penelope V; Ali Eloussta, Kussai Giuma; Latchford, Andrew; Faiz, Omar; Thomas, Huw; Liccardo, Filomena; Pawa, Nikhil; Hüneburg, Robert; Nattermann, Jacob; George, Andrew; Balaguer, Francesc; Martí, Marc; Spinelli, Antonino; Foppa, Caterina; de Miranda, Noel F F C; López, Irene; Hurtado, Elena; Jiménez, Fernando; Jiménez-Toscano, Marta; Álvaro, Edurne; Sanz, Gonzalo; Ballestero, Araceli; Rueda, José A; Viyuela, Cristina; Brandáriz, Lorena; Vidal-Tocino, Rosario; García-Olmo, Damián; Pastor, Carlos; González-Sarmiento, Rogelio; Holowatyj, Andreana N; McVeigh, Terri; Perea, José; Monahan, Kevin J

Metagenomic analysis of mosquitoes from Kangerlussuaq, Greenland reveals a unique virome

对格陵兰岛坎格尔路斯瓦克蚊子的宏基因组分析揭示了一种独特的病毒组

Schilling, Mirjam; Jagdev, Madhujot; Thomas, Huw; Johnson, Nicholas

FUT8 Is a Critical Driver of Prostate Tumour Growth and Can Be Targeted Using Fucosylation Inhibitors.

FUT8 是前列腺肿瘤生长的关键驱动因素,可以使用岩藻糖基化抑制剂进行靶向治疗

Bastian Kayla, Orozco-Moreno Margarita, Thomas Huw, Hodgson Kirsty, Visser Eline A, Rossing Emiel, Pijnenborg Johan F A, Eerden Nienke, Wilson Laura, Saravannan Hasvini, Hanley Oliver, Grimsley Grace, Frame Fiona, Peng Ziqian, Knight Bridget, McCullagh Paul, McGrath John, Crundwell Malcolm, Harries Lorna, Maitland Norman J, Heer Rakesh, Wang Ning, Goddard-Borger Ethan D, Guerrero Ramon Hurtado, Boltje Thomas J, Drake Richard R, Scott Emma, Elliott David J, Munkley Jennifer

Cytokine-induced transcriptional changes in human neutrophils reveal immune regulatory plasticity

细胞因子诱导的人类中性粒细胞转录变化揭示了免疫调节可塑性

Thomas, Huw B; Edwards, Steven W; Wright, Helen L

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

由DNA修复缺陷引起的孟德尔癌症综合征家族中的种系新生突变

Sherwood, Kitty; Ward, Joseph C; Soriano, Ignacio; Martin, Lynn; Campbell, Archie; Rahbari, Raheleh; Kafetzopoulos, Ioannis; Sproul, Duncan; Green, Andrew; Sampson, Julian R; Donaldson, Alan; Ong, Kai-Ren; Heinimann, Karl; Nielsen, Maartje; Thomas, Huw; Latchford, Andrew; Palles, Claire; Tomlinson, Ian

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

作者更正:由DNA修复缺陷引起的孟德尔癌症综合征家族中的种系新生突变

Sherwood, Kitty; Ward, Joseph C; Soriano, Ignacio; Martin, Lynn; Campbell, Archie; Rahbari, Raheleh; Kafetzopoulos, Ioannis; Sproul, Duncan; Green, Andrew; Sampson, Julian R; Donaldson, Alan; Ong, Kai-Ren; Heinimann, Karl; Nielsen, Maartje; Thomas, Huw; Latchford, Andrew; Palles, Claire; Tomlinson, Ian

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

携带致病性错配修复基因变异并接受早期癌症诊断和治疗监测的患者的年龄、基因和性别死亡率:来自前瞻性林奇综合征数据库的报告

Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T; Sampson, Julian R; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Dębniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lior H; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S; Horisberger, Karoline; Tibiletti, Maria Grazia; Nascimento, Ivana do; Thomas, Huw; Rossi, Norma Teresa; Apolinário da Silva, Leandro; Zaránd, Attila; Ruiz-Bañobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Peltomäki, Päivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L; Win, Aung Ko; Haile, Robert W; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Figueiredo, Jane; Buchanan, Daniel D; Thibodeau, Stephen N; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schröck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; Redler, Silke; Büttner, Reinhard; Weitz, Jürgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sánchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; Ten Broeke, Sanne W; Kariv, Revital; Rosner, Guy; Advani, Suresh H; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pål