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

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7

与视网膜营养不良相关的Xq27.1染色体间插入会导致LINC00632和CDR1as/ciRS-7的失调。

Gardner, Jessica C; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uirá Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C; Moore, Anthony T; Michaelides, Michel; Cheetham, Michael E; Hardcastle, Alison J

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

神经病变靶酯酶活性决定了PNPLA6疾病的表型

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q(10) deficiency

一例与COQ2相关的原发性辅酶Q10缺乏症患者出现视网膜病变和视神经萎缩

Stallworth, Jeannette Y; Blair, David R; Slavotinek, Anne; Moore, Anthony T; Duncan, Jacque L; de Alba Campomanes, Alejandra G

Optogenetic approaches to therapy for inherited retinal degenerations

光遗传学方法在遗传性视网膜变性疾病治疗中的应用

De Silva, Samantha R; Moore, Anthony T

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

Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations

除了H因子之外:与年龄相关的黄斑变性遗传风险变异对循环中H因子样蛋白1和H因子相关蛋白浓度的影响

Cipriani, Valentina; Tierney, Anna; Griffiths, John R; Zuber, Verena; Sergouniotis, Panagiotis I; Yates, John R W; Moore, Anthony T; Bishop, Paul N; Clark, Simon J; Unwin, Richard D

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

SSBP1疾病最新进展:扩展遗传和临床谱,报告可变外显率并确认隐性遗传

Jurkute, Neringa; D'Esposito, Fabiana; Robson, Anthony G; Pitceathly, Robert D S; Cordeiro, Francesca; Raymond, F Lucy; Moore, Anthony T; Michaelides, Michel; Yu-Wai-Man, Patrick; Webster, Andrew R; Arno, Gavin

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.

大多数常染色体隐性小眼球症和后部小眼球症可归因于 MFRP 和 PRSS56 的双等位基因序列和结构变异

Almoallem Basamat, Arno Gavin, De Zaeytijd Julie, Verdin Hannah, Balikova Irina, Casteels Ingele, de Ravel Thomy, Hull Sarah, Suzani Martina, Destrée Anne, Peng Michelle, Williams Denise, Ainsworth John R, Webster Andrew R, Leroy Bart P, Moore Anthony T, De Baere Elfride

A Chronicle on Genetics and the March of Darwinian and Mendelian Medicine

遗传学编年史及达尔文和孟德尔医学的进展

Gill, Jasdeep S; Georgiou, Michalis; Kalitzeos, Angelos; Moore, Anthony T; Michaelides, Michel; Govindaraju, Diddahally R

The genetic landscape of crystallins in congenital cataract

先天性白内障中晶状体蛋白的遗传图谱

Berry, Vanita; Ionides, Alex; Pontikos, Nikolas; Georgiou, Michalis; Yu, Jing; Ocaka, Louise A; Moore, Anthony T; Quinlan, Roy A; Michaelides, Michel