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

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

编码囊泡 AP-5 复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良

Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo

Early retinal electrophysiology changes in quinine overdose

奎宁过量引起的早期视网膜电生理变化

Quinn, Stephanie; Papastavrou, Vasileios T; Warriner, Clare; O'Brien, Jill M; Grinton, Michael E; Browning, Andrew C

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders

高度减退性溶酶体贮积症的遗传学见解和诊断挑战

Urizar, Elena; McCarron, Eamon P; Gadepalli, Chaitanya; Bentley, Andrew; Woolfson, Peter; Lin, Siying; Iosifidis, Christos; Browning, Andrew C; Bassett, John; Senarathne, Udara D; Indika, Neluwa-Liyanage R; Church, Heather J; Cooper, James A; Menendez Lorenzo, Jorge; Farrugia, Maria Elena; Jones, Simon A; Black, Graeme C; Stepien, Karolina M

Macular OCT inner retinal changes reflect CNS involvement in m.3243A>G disease

黄斑OCT内层视网膜改变反映了m.3243A>G疾病的中枢神经系统受累情况。

Jouda, Hatem; Browning, Andrew C; Aftab, Akhunzada M; Mahmoud, Ikhlas; Bibi, Saima; McFarland, Robert; Pickett, Sarah J; Devine, Helen

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death

由m.3243A>T变异引起的线粒体疾病的严重临床表现:一例早发、多器官受累和过早死亡的病例报告

Gillespie, Hannah; Ng, Yi Shiau; Wood, Katrina M; Hopton, Sila; Alston, Charlotte L; Blakely, Emma L; Thompson, Nick; Taylor, Robert W; Browning, Andrew C; McFarland, Robert; Sayer, John A

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

利用基因编辑治疗由C1QTNF5基因创始变异引起的迟发性视网膜变性

Li, Randa T H; Roman, Alejandro J; Sumaroka, Alexander; Stanton, Chloe M; Swider, Malgorzata; Garafalo, Alexandra V; Heon, Elise; Vincent, Ajoy; Wright, Alan F; Megaw, Roly; Aleman, Tomas S; Browning, Andrew C; Dhillon, Baljean; Cideciyan, Artur V

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

Reticular Pseudodrusen in Late-Onset Retinal Degeneration

晚发性视网膜变性中的网状假性玻璃膜疣

Borooah, Shyamanga; Papastavrou, Vasileios; Lando, Leonardo; Han, Jonathan; Lin, Jonathan H; Ayyagari, Radha; Dhillon, Baljean; Browning, Andrew C

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation

由PAX2基因突变引起的肾缺损综合征家族中存在多种表型。

Adam, Jennifer; Browning, Andrew C; Vaideanu, Daniela; Heidet, Laurence; Goodship, Judith A; Sayer, John A