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

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

出版商更正:对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

Efficacy of auditory gamma stimulation for cognitive decline: a systematic review of individual and group differences across cognitively impaired and healthy populations

听觉伽马刺激对认知衰退的疗效:认知障碍人群和健康人群个体及群体差异的系统评价

Bolland, Eve; De Burca, Aoibhe; Wang, Sheng Hsuan; Khalil, Alexander; McLoughlin, Gráinne

Depression and anxiety are increased in autism and ADHD: Evidence from a young adult community-based sample

自闭症和注意力缺陷多动障碍患者的抑郁和焦虑水平升高:来自一项基于社区青年样本的研究

Capp, Simone; De Burca, Aoibhe; Aydin, Ümit; Agnew-Blais, Jessica; Lautarescu, Alexandra; Ronald, Angelica; Happé, Francesca; McLoughlin, Gráinne

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

10万基因组计划在医疗保健领域罕见病诊断方面的试点项目——初步报告

Smedley, Damian; Smith, Katherine R; Martin, Antonio; Thomas, Ellen A; McDonagh, Ellen M; Cipriani, Valentina; Ellingford, Jamie M; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmström, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Gräf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L T; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E; Daugherty, Louise C; Niblock, Olivia; Leong, Ivone U S; Wright, Caroline F; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J; Humphray, Sean J; Robinson, Peter N; Haendel, Melissa; Simpson, Michael A; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B; O'Keefe, Raymond T; Michaelides, Michel; Moore, Anthony T; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C; Straub, Volker; Gorman, Gráinne S; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M; Yu-Wai-Man, Patrick; Turnbull, Doug M; McFarland, Robert; Taylor, Robert W; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R; Polke, James; Wood, Nicholas W; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Németh, Andrea H; Palles, Claire; Patel, Smita; Roy, Noemi B A; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O; Seaby, Eleanor G; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I Karen; Mumford, Andrew D; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R; Brennan, Paul; Burn, John; Chinnery, Patrick F; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A; Taylor, Jenny C; Webster, Andrew R; Wilkie, Andrew O M; Ouwehand, Willem H; Raymond, F Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H; Fowler, Tom; Rendon, Augusto; Caulfield, Mark

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

ANKRD17 杂合子功能缺失变异会导致一种综合征,其特征为智力障碍、语言发育迟缓和畸形。

Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

TLK2基因的新生突变和遗传性功能丧失变异:一种独特神经发育障碍的临床和基因型-表型评估

Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P A; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M A; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen R F; Mathijssen, Irene M J; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew O M

Using real-time fMRI to influence effective connectivity in the developing emotion regulation network

利用实时功能磁共振成像技术影响发育中的情绪调节网络的有效连接

Cohen Kadosh, Kathrin; Luo, Qiang; de Burca, Calem; Sokunbi, Moses O; Feng, Jianfeng; Linden, David E J; Lau, Jennifer Y F