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G

Gavin Arno

UCL Institute of Ophthalmology
H指数:44
被引数:7,236

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Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series

双等位基因RDH11变异导致伴有早期发病白内障和神经发育迟滞的综合征性色素视网膜炎：一项多中心病例系列研究

European Journal of Human Genetics
IF4.6
2026-09-160
OA
Marianthi Karali; Susanne Kohl; Francesco Testa; Eleanor Hay; Yasas D. Kolambage; German Demidov; Tobias Haack; Hamid Ghaedi; Siying Lin; Gemma Natale; Vindya Subasinghe; Pyara Rathnayake; Sarah Wörz; Gavin Arno; Rebecca Buchert; Katarina Stingl; Francesca Simonelli; Sandro Banfi
The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

AP5B1基因p.Leu785Pro变异是导致迟发性视网膜色素变性并伴有可变眼外表现的一种常见原因

Human Genetics and Genomics Advances
IF3.6
2026-08-070
OAAI
Petra Liskova; Lubica Dudakova; Karolina Kaminska; Laura Kühlewein; Stefanida Shliaga; Rina Leibu; Miriam Ehrenberg; Dinah Zur; Jana Zernant; Miriam Bauwens; Gavin Arno; Isabelle Müller; Focke Ziemssen; Viktoria Bothe; Francesca Cancellieri; Julie De Zaeytijd; Pascale Mazzola; Winston Lee; Bohdan Kousal; Marie Vajter
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies

靶向长读长cDNA测序揭示导致视网膜变性的新型剪接改变致病变异

HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-07-010
OAAI
Capasso, Dalila; Zeuli, Roberta; Arno, Gavin; Kwint, Michael; Timmermans, Raoul; Ruiz-Ceja, Karla A.; Karali, Marianthi; Signorini, Sabrina; Valente, Enza Maria; Cremers, Frans P. M.; Banfi, Sandro; Roosing, Susanne; Panneman, Daan M.; de Bruijn, Suzanne E.
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

POC5基因的双等位基因失活突变可导致综合征性视网膜、内分泌和神经肌肉性纤毛病

Genetics in Medicine
IF6.2
2025-06-280
OAAI
Anneke T. Vulto-van Silfhout; Ingrid M. Jazet; Suzanne Yzer; Jeroen Pas; Serwet Demirdas; Elisabeth F.C. van Rossum; Alberta A.H.J. Thiadens; Ronald van Beek; Lonneke Haer-Wigman; Daniela Q.C.M. Barge-Schaapveld; Charlotte Brasch-Andersen; Simon Frost; Miriam Bauwens; Elfride De Baere; Irina Balikova; Filip Van den Broeck; Monika Weisz-Hubshman; Pascal Joset; Peter Miny; Isabel Filges; Susanne Kohl; Pietro De Angeli; Laura Kühlewein; Jan-Philipp Bodenbender; Tobias Haack; Karin Poths; Lidia Fernandez-Caballero; Marta Corton; Fiona Blanco Kelly; Carmen Ayuso; Peggy Martínez-Esteban; John Vissing; Jordi Díaz-Manera; Volker Straub; Ana Töpf; Siying Lin; Gavin Arno; William L. Macken; Jennifer Spillane; Radha Ramachandran; Erik de Vrieze; Tjakko van Ham; Susanne Roosing; Machteld M. Oud
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

C19orf44基因的双等位基因无义变异导致一种独特的迟发性视网膜营养不良表型，其特征为斑片状黄斑周围脉络膜视网膜萎缩。

GENETICS IN MEDICINE
IF6.2
2025-06-010
OAAI
Ehrenberg, Miriam; Avraham, Maayan; Asodu, Sandeep Sarma; Moye, Abigail R.; Sangermano, Riccardo; Rizel, Leah; Ali-Nasser, Tahleel; Sher, Ifat; Gurwitz, David; Chao, Katherine R.; Rivera, Antonio; Webster, Andrew R.; Rivolta, Carlo; Newman, Hadas; Pras, Eran; Rotenstreich, Ygal; Banin, Eyal; Pierce, Eric A.; Zur, Dinah; Arno, Gavin; Bujakowska, Kinga M.; Lin, Siying; Sharon, Dror; Ben-Yosef, Tamar
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-04-010
OAAI
Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose 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
Rare disease gene association discovery in the 100,000 Genomes Project

100,000 Genomes Project中罕见病基因关联的发现

NATURE
IF48.5
2025-02-262
OA
Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F.; Jacobsen, Julius O. B.; Arno, Gavin; Behr, Elijah R.; Benson, Katherine A.; Bertoli, Marta; Bowl, Michael R.; Chan, Li F.; Chinnery, Patrick; Conlon, Peter J.; Costa, Marcos A.; Davidson, Alice E.; Dawson, Sally J.; Elhassan, Elhussein A. E.; Flanagan, Sarah E.; Futema, Marta; Gale, Daniel P.; Garcia-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R.; Hambleton, Sophie; Hicks, Amy R.; Houlden, Henry; Houlston, Richard S.; Howles, Sarah A.; Kleta, Robert; Lekkerkerker, Iris; Liskova, Petra; Mitchison, Hannah H.; Morsy, Heba; Mumford, Andrew D.; Newman, William G.; Neatu, Ruxandra; O'Toole, Edel A.; Ong, Albert C. M.; Pagnamenta, Alistair T.; Rahman, Shamima; Rajan, Neil; Robinson, Peter N.; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A.; Shovlin, Claire L.; Taylor, Jenny C.; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; van Eerde, Albertien M.; Ware, James S.; Watts, Laura M.; Webster, Andrew R.; Westbury, Sarah K.; Zheng, Sean L.; Caulfield, Mark; Smedley, Damian
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-09-011
OAAI
Malka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
BRAIN
IF11.7
2024-05-130
OA
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, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, 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.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-02-013
OAAI
Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R.; Van Den Broeck, Filip; Leroy, Bart P.; Rizel, Leah; Moye, Abigail R.; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P.; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavi; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2024-01-241
OAAI
Fujinami-Yokokawa, Yu; Joo, Kwangsic; Liu, Xiao; Tsunoda, Kazushige; Kondo, Mineo; Ahn, Seong Joon; Robson, Anthony G.; Naka, Izumi; Ohashi, Jun; Li, Hui; Yang, Lizhu; Arno, Gavin; Pontikos, Nikolas; Park, Kyu Hyung; Michaelides, Michel; Tachimori, Hisateru; Miyata, Hiroaki; Sui, Ruifang; Woo, Se Joon; Fujinami, Kaoru
KCNV2-associated retinopathy: genotype-phenotype correlations-KCNV2 study group report 3

KCNV2-associated视网膜病变: 基因型-表型correlations-KCNV2研究组报告3

BRITISH JOURNAL OF OPHTHALMOLOGY
IF3.5
2023-10-181
OAAI
de Guimaraes, Thales A. C.; Georgiou, Michalis; Robson, Anthony G.; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Mahroo, Omar A.; Pontikos, Nikolas; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; de Carvalho, Emanuel R.; Nguyen, Xuan-Than-An; Arno, Gavin; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jimenez-Rolando, Belen; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Salas, Ester Carreno; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M.; Banin, Eyal; Pennesi, Mark E.; Khan, Arif O.; Wissinger, Bernd; Webster, Andrew R.; Heon, Elise; Boon, Camiel J. F.; Zrenner, Eberhard; Michaelides, Michel

研究方向

暂未获取到该数据
A
Andrew R. Webster
H 指数:76论文数:658被引数:2.2万
M
Michel Michaelides
H 指数:78论文数:822被引数:2.4万
A
Anthony T. Moore
H 指数:75论文数:386被引数:2.1万
A
Anthony G. Robson
H 指数:58论文数:389被引数:1.2万
N
Nikolas Pontikos
H 指数:43论文数:253被引数:7,703
S
Sarah Hull
H 指数:28论文数:73被引数:2,402
O
Omar A. Mahroo
H 指数:31论文数:314被引数:4,379
K
Keren Carss
H 指数:55论文数:122被引数:1.2万
K
Kaoru Fujinami
H 指数:38论文数:209被引数:4,235
F
F. Lucy Raymond
H 指数:56论文数:159被引数:1.2万