Anthony T. Moore - Publications, H-index & Citations

Anthony T. Moore

University College London

63H指数

270论文数

1.3W被引数

收录论文 78

发表时间

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-01-01

OAAI

Gardner, Jessica C.; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uira 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.

A cross-sectional study of the relative availability and prominence of shelf space allocated to healthy and unhealthy foods in supermarkets in urban Ireland, by area-level deprivation (vol 24, 2689, 2024)

BMC PUBLIC HEALTH

IF3.6

2024-12-10

OAAI

O'Mahony, S.; Collins, N.; Doyle, G.; Mccann, A.; Burke, K.; Moore, A.; Gibney, E. R.

A cross-sectional study of the relative availability and prominence of shelf space allocated to healthy and unhealthy foods in supermarkets in urban Ireland, by area-level deprivation

BMC PUBLIC HEALTH

IF3.6

2024-10-02

OAAI

O'Mahony, S.; Collins, N.; Doyle, G.; McCann, A.; Burke, K.; Moore, A.; Gibney, E. R.

Mitochondrial Disorders and the Eye: A New Era for Diagnosis

OPHTHALMOLOGY

IF9.5

2021-04-01

OAAI

Moore, Anthony T.; Yu-Wai-Man, Patrick

Multiexon deletion alleles of ATF6 linked to achromatopsia

JCI INSIGHT

IF6.1

2020-04-09

OAAI

Lee, Eun-Jin; Chiang, Wei-Chieh Jerry; Kroeger, Heike; Bi, Chloe Xiaoke; Chao, Daniel L.; Skowronska-Krawczyk, Dorota; Mastey, Rebecca R.; Tsang, Stephen H.; Chea, Leon; Kim, Kyle; Lambert, Scott R.; Grandjean, Julia; Baumann, Britta; Audo, Isabelle; Kohl, Susanne; Moore, Anthony T.; Wiseman, R. Luke; Carroll, Joseph; Lin, Jonathan H.

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

CELL STEM CELL

IF20.4

2016-06-01

252

OAAI

Parfitt, David A.; Lane, Amelia; Ramsden, Conor M.; Carr, Amanda-Jayne F.; Munro, Peter M.; Jovanovic, Katarina; Schwarz, Nele; Kanuga, Naheed; Muthiah, Manickam N.; Hull, Sarah; Gallo, Jean-Marc; da Cruz, Lyndon; Moore, Anthony T.; Hardcastle, Alison J.; Coffey, Peter J.; Cheetham, Michael E.

PAX6, brain structure and function in human adults: advanced MRI in aniridia

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2016-04-12

OAAI

Yogarajah, Mahinda; Matarin, Mar; Vollmar, Christian; Thompson, Pamela J.; Duncan, John S.; Symms, Mark; Moore, Anthony T.; Liu, Joan; Thom, Maria; van Heyningen, Veronica; Sisodiya, Sanjay M.

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy TUBGCP4的突变通过常染色体隐性小头畸形伴脉络膜视网膜病变的 γ-微管蛋白环复合物改变微管组织

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-04-01

OAAI

Scheidecker, Sophie; Etard, Christelle; Haren, Laurence; Stoetzel, Corinne; Hull, Sarah; Arno, Gavin; Plagnol, Vincent; Drunat, Severine; Passemard, Sandrine; Toutain, Annick; Obringer, Cathy; Koob, Meriam; Geoffroy, Veronique; Marion, Vincent; Straehle, Uwe; Ostergaard, Pia; Verloes, Alain; Merdes, Andreas; Moore, Anthony T.; Dollfus, Helene

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

NATURE GENETICS

IF31.8

2014-10-26

152

OAAI

Martin, Carol-Anne; Ahmad, Ilyas; Klingseisen, Anna; Hussain, Muhammad Sajid; Bicknell, Louise S.; Leitch, Andrea; Nuernberg, Gudrun; Toliat, Mohammad Reza; Murray, Jennie E.; Hunt, David; Khan, Fawad; Ali, Zafar; Tinschert, Sigrid; Ding, James; Keith, Charlotte; Harley, Margaret E.; Heyn, Patricia; Mueller, Rolf; Hoffmann, Ingrid; Cormier-Daire, Valerie; Dollfus, Helene; Dupuis, Lucie; Bashamboo, Anu; McElreavey, Kenneth; Kariminejad, Ariana; Mendoza-Londono, Roberto; Moore, Anthony T.; Saggar, Anand; Schlechter, Catie; Weleber, Richard; Thiele, Holger; Altmueller, Janine; Hoehne, Wolfgang; Hurles, Matthew E.; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nuernberg, Peter; Jackson, Andrew P.

Abnormal retinal development associated with FRMD7 mutations

HUMAN MOLECULAR GENETICS

IF3.2

2014-03-31

OAAI

Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Araki, Masasuke; Leroy, Bart P.; McLean, Rebecca J.; Sheth, Viral; Maconachie, Gail; Thomas, Shery; Moore, Anthony T.; Gottlob, Irene

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2014-02-01

OAAI

Williamson, Kathleen A.; Rainger, Joe; Floyd, James A. B.; Ansari, Morad; Meynert, Alison; Aldridge, Kishan V.; Rainger, Jacqueline K.; Anderson, Carl A.; Moore, Anthony T.; Hurles, Matthew E.; Clarke, Angus; van Heyningen, Veronica; Verloes, Alain; Taylor, Martin S.; Wilkie, Andrew O. M.; FitzPatrick, David R.

Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation

OPHTHALMOLOGY

IF9.5

2014-02-01

PREAI

Lenassi, Eva; Saihan, Zubin; Cipriani, Valentina; Stabej, Polona Le Quesne; Moore, Anthony T.; Luxon, Linda M.; Bitner-Glindzicz, Maria; Webster, Andrew R.

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity 与视网膜营养不良和肥胖相关的TUB基因中的纯合突变

HUMAN MUTATION

IF3.7

2013-12-20

OAAI

Borman, Arundhati Dev; Pearce, Laura R.; Mackay, Donna S.; Nagel-Wolfrum, Kerstin; Davidson, Alice E.; Henderson, Robert; Garg, Sumedha; Waseem, Naushin H.; Webster, Andrew R.; Plagnol, Vincent; Wolfrum, Uwe; Farooqi, I. Sadaf; Moore, Anthony T.

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-12-01

OAAI

Poulter, James A.; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M.; Sheridan, Eamonn; Carr, Ian M.; Parry, David A.; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I.; Webster, Andrew R.; Moore, Anthony T.; Pal, Bishwanath; Mohamed, Moin D.; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A.; Hewitt, Alex W.; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F.; Toomes, Carmel

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2013-11-27

OAAI

Jones, Gabriela E.; Ostergaard, Pia; Moore, Anthony T.; Connell, Fiona C.; Williams, Denise; Quarrell, Oliver; Brady, Angela F.; Spier, Isabel; Hazan, Filiz; Moldovan, Oana; Wieczorek, Dagmar; Mikat, Barbara; Petit, Florence; Coubes, Christine; Saul, Robert A.; Brice, Glen; Gordon, Kristiana; Jeffery, Steve; Mortimer, Peter S.; Vasudevan, Pradeep C.; Mansour, Sahar

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

JOURNAL OF MEDICAL GENETICS

IF3.7

2013-11-07

OAAI

Onoufriadis, Alexandros; Shoemark, Amelia; Munye, Mustafa M.; James, Chela T.; Schmidts, Miriam; Patel, Mitali; Rosser, Elisabeth M.; Bacchelli, Chiara; Beales, Philip L.; Scambler, Peter J.; Hart, Stephen L.; Danke-Roelse, Jeannette E.; Sloper, John J.; Hull, Sarah; Hogg, Claire; Emes, Richard D.; Pals, Gerard; Moore, Anthony T.; Chung, Eddie M. K.; Mitchison, Hannah M.

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-11-01

OAAI

Schmidts, Miriam; Vodopiutz, Julia; Christou-Savina, Sonia; Cortes, Claudio R.; McInerney-Leo, Aideen M.; Emes, Richard D.; Arts, Heleen H.; Tuysuz, Beyhan; D'Silva, Jason; Leo, Paul J.; Giles, Tom C.; Oud, Machteld M.; Harris, Jessica A.; Koopmans, Marije; Marshall, Mhairi; Elcioglu, Nursel; Kuechler, Alma; Bockenhauer, Detlef; Moore, Anthony T.; Wilson, Louise C.; Janecke, Andreas R.; Hurles, Matthew E.; Emmet, Warren; Gardiner, Brooke; Streubel, Berthold; Dopita, Belinda; Zankl, Andreas; Kayserili, Hulya; Scambler, Peter J.; Brown, Matthew A.; Beales, Philip L.; Wicking, Carol; Duncan, Emma L.; Mitchison, Hannah M.

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

NATURE GENETICS

IF31.8

2013-09-15

149

OAAI

Zhan, Xiaowei; Larson, David E.; Wang, Chaolong; Koboldt, Daniel C.; Sergeev, Yuri V.; Fulton, Robert S.; Fulton, Lucinda L.; Fronick, Catrina C.; Branham, Kari E.; Bragg-Gresham, Jennifer; Jun, Goo; Hu, Youna; Kang, Hyun Min; Liu, Dajiang; Othman, Mohammad; Brooks, Matthew; Ratnapriya, Rinki; Boleda, Alexis; Grassmann, Felix; von Strachwitz, Claudia; Olson, Lana M.; Buitendijk, Gabrielle H. S.; Hofman, Albert; van Duijn, Cornelia M.; Cipriani, Valentina; Moore, Anthony T.; Shahid, Humma; Jiang, Yingda; Conley, Yvette P.; Morgan, Denise J.; Kim, Ivana K.; Johnson, Matthew P.; Cantsilieris, Stuart; Richardson, Andrea J.; Guymer, Robyn H.; Luo, Hongrong; Ouyang, Hong; Licht, Christoph; Pluthero, Fred G.; Zhang, Mindy M.; Zhang, Kang; Baird, Paul N.; Blangero, John; Klein, Michael L.; Farrer, Lindsay A.; DeAngelis, Margaret M.; Weeks, Daniel E.; Gorin, Michael B.; Yates, John R. W.; Klaver, Caroline C. W.; Pericak-Vance, Margaret A.; Haines, Jonathan L.; Weber, Bernhard H. F.; Wilson, Richard K.; Heckenlively, John R.; Chew, Emily Y.; Stambolian, Dwight; Mardis, Elaine R.; Swaroop, Anand; Abecasis, Goncalo R.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

JOURNAL OF MEDICAL GENETICS

IF3.7

2013-08-06

OAAI

Richards, Allan J.; Fincham, Gregory S.; McNinch, Annie; Hill, David; Poulson, Arabella V.; Castle, Bruce; Lees, Melissa M.; Moore, Anthony T.; Scott, John D.; Snead, Martin P.

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

HUMAN MOLECULAR GENETICS

IF3.2

2013-07-19

OAAI

Ansari, Morad; Mckeigue, Paul M.; Skerka, Christine; Hayward, Caroline; Rudan, Igor; Vitart, Veronique; Polasek, Ozren; Armbrecht, Ana-Maria; Yates, John R. W.; Vatavuk, Zoran; Bencic, Goran; Kolcic, Ivana; Oostra, Ben A.; Van Duijn, Cornelia M.; Campbell, Susan; Stanton, Chloe M.; Huffman, Jennifer; Shu, Xinhua; Khan, Jane C.; Shahid, Humma; Harding, Simon P.; Bishop, Paul N.; Deary, Ian J.; Moore, Anthony T.; Dhillon, Baljean; Rudan, Pavao; Zipfel, Peter F.; Sim, Robert B.; Hastie, Nicholas D.; Campbell, Harry; Wright, Alan F.

研究方向