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

A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort

对罕见病队列中线粒体氨酰tRNA合成酶变异体的系统分析

Ratnaike, Thiloka E; Kule, M Eren; Paramonov, Ida; Matalonga, Leslie; Polavarapu, Kiran; Olimpio, Catarina; Horváth, Rita

Virtual Nursing in Residential Aged Care: What Is Known? A Rapid Review

养老院虚拟护理:已知信息有哪些?快速综述

Haines, S J; FitzGerald, J; Clune, S; Wells, Y; Mahoney, A-M; Fetherstonhaugh, D; Jiang, H; Blackberry, I; Collier, J; Ratnaike, D; Rasekaba, T; MacDermott, S

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience

通过评估基因型和表型数据发现线粒体DNA疾病:Solve-RD的经验

Ratnaike, Thiloka; Paramonov, Ida; Olimpio, Catarina; Hoischen, Alexander; Beltran, Sergi; Matalonga, Leslie; Horváth, Rita

Genetic investigations in cerebral palsy

脑瘫的基因研究

Basu, Anna P; Low, Karen; Ratnaike, Thiloka; Rowitch, David

What is known about population level programs designed to address gambling-related harm: rapid review of the evidence

针对旨在解决赌博相关危害的人群层面项目,我们了解哪些信息:证据快速回顾

Clune, Samantha; Ratnaike, Deepika; White, Vanessa; Donaldson, Alex; Randle, Erica; O'Halloran, Paul; Lewis, Virginia

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis

丙戊酸钠对线粒体疾病的毒性证据:一项系统分析

Ratnaike, Thiloka E; Elkhateeb, Nour; Lochmüller, Angela; Gilmartin, Christopher; Schon, Katherine; Horváth, Rita; Chinnery, Patrick F

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

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

利用全基因组测序确定疑似线粒体疾病的遗传基础:队列研究

Schon, Katherine R; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibañez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D S; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Clement, Emma; Ashton, Emma; Sayer, John A; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fratter, Carl; Nesbitt, Victoria; Barrett, Timothy; McMullen, Dominic J; Smith, Audrey; Deshpande, Charulata; Smithson, Sarah F; Festenstein, Richard; Canham, Natalie; Caulfield, Mark; Houlden, Henry; Rahman, Shamima; Chinnery, Patrick F

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

MitoPhen数据库:一种基于人类表型本体论的线粒体DNA疾病识别方法

Ratnaike, Thiloka E; Greene, Daniel; Wei, Wei; Sanchis-Juan, Alba; Schon, Katherine R; van den Ameele, Jelle; Raymond, Lucy; Horvath, Rita; Turro, Ernest; Chinnery, Patrick F

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

更正:撰写罕见病治疗系统评价以生成符合 FAIR 原则的数据集的指南:构建治疗组学

Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Reinhard, Carola; Gómez-Andrés, David; Desaphy, Jean-François; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J; Synofzik, Matthis; Riess, Olaf; Yaou, Rabah Ben; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisèle