Mervyn George Thomas, Rebecca Jane McLean, Susanne Kohl, Viral Sheth, Irene Gottlob. Br J Ophthalmol 2012
Times Cited: 53
Times Cited: 53
Times Cited
Times Co-cited
Similarity
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
Alberta A H J Thiadens, Ville Somervuo, L Ingeborgh van den Born, Susanne Roosing, Mary J van Schooneveld, Robert W A M Kuijpers, Norka van Moll-Ramirez, Frans P M Cremers, Carel B Hoyng, Caroline C W Klaver. Invest Ophthalmol Vis Sci 2010
Alberta A H J Thiadens, Ville Somervuo, L Ingeborgh van den Born, Susanne Roosing, Mary J van Schooneveld, Robert W A M Kuijpers, Norka van Moll-Ramirez, Frans P M Cremers, Carel B Hoyng, Caroline C W Klaver. Invest Ophthalmol Vis Sci 2010
79
Retinal structure and function in achromatopsia: implications for gene therapy.
Venki Sundaram, Caroline Wilde, Jonathan Aboshiha, Jill Cowing, Colin Han, Christopher S Langlo, Ravinder Chana, Alice E Davidson, Panagiotis I Sergouniotis, James W Bainbridge,[...]. Ophthalmology 2014
Venki Sundaram, Caroline Wilde, Jonathan Aboshiha, Jill Cowing, Colin Han, Christopher S Langlo, Ravinder Chana, Alice E Davidson, Panagiotis I Sergouniotis, James W Bainbridge,[...]. Ophthalmology 2014
60
Photoreceptor structure and function in patients with congenital achromatopsia.
Mohamed A Genead, Gerald A Fishman, Jungtae Rha, Adam M Dubis, Daniela Maria O Bonci, Alfredo Dubra, Edwin M Stone, Maureen Neitz, Joseph Carroll. Invest Ophthalmol Vis Sci 2011
Mohamed A Genead, Gerald A Fishman, Jungtae Rha, Adam M Dubis, Daniela Maria O Bonci, Alfredo Dubra, Edwin M Stone, Maureen Neitz, Joseph Carroll. Invest Ophthalmol Vis Sci 2011
58
High-resolution in vivo imaging in achromatopsia.
Mervyn G Thomas, Anil Kumar, Susanne Kohl, Frank A Proudlock, Irene Gottlob. Ophthalmology 2011
Mervyn G Thomas, Anil Kumar, Susanne Kohl, Frank A Proudlock, Irene Gottlob. Ophthalmology 2011
54
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Susanne Kohl, Frauke Coppieters, Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M van Genderen, Frans C C Riemslag, Robert Lukowski,[...]. Am J Hum Genet 2012
Susanne Kohl, Frauke Coppieters, Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M van Genderen, Frans C C Riemslag, Robert Lukowski,[...]. Am J Hum Genet 2012
50
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
S Kohl, T Marx, I Giddings, H Jägle, S G Jacobson, E Apfelstedt-Sylla, E Zrenner, L T Sharpe, B Wissinger. Nat Genet 1998
S Kohl, T Marx, I Giddings, H Jägle, S G Jacobson, E Apfelstedt-Sylla, E Zrenner, L T Sharpe, B Wissinger. Nat Genet 1998
47
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G Jacobson, Bernd Wissinger. Am J Hum Genet 2002
Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G Jacobson, Bernd Wissinger. Am J Hum Genet 2002
45
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
S Kohl, B Baumann, M Broghammer, H Jägle, P Sieving, U Kellner, R Spegal, M Anastasi, E Zrenner, L T Sharpe,[...]. Hum Mol Genet 2000
S Kohl, B Baumann, M Broghammer, H Jägle, P Sieving, U Kellner, R Spegal, M Anastasi, E Zrenner, L T Sharpe,[...]. Hum Mol Genet 2000
43
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Alberta A H J Thiadens, Niki W R Slingerland, Susanne Roosing, Mary J van Schooneveld, Janneke J C van Lith-Verhoeven, Norka van Moll-Ramirez, L Ingeborgh van den Born, Carel B Hoyng, Frans P M Cremers, Caroline C W Klaver. Ophthalmology 2009
Alberta A H J Thiadens, Niki W R Slingerland, Susanne Roosing, Mary J van Schooneveld, Janneke J C van Lith-Verhoeven, Norka van Moll-Ramirez, L Ingeborgh van den Born, Carel B Hoyng, Frans P M Cremers, Caroline C W Klaver. Ophthalmology 2009
41
41
A prospective longitudinal study of retinal structure and function in achromatopsia.
Jonathan Aboshiha, Adam M Dubis, Jill Cowing, Rachel T A Fahy, Venki Sundaram, James W Bainbridge, Robin R Ali, Alfredo Dubra, Marko Nardini, Andrew R Webster,[...]. Invest Ophthalmol Vis Sci 2014
Jonathan Aboshiha, Adam M Dubis, Jill Cowing, Rachel T A Fahy, Venki Sundaram, James W Bainbridge, Robin R Ali, Alfredo Dubra, Marko Nardini, Andrew R Webster,[...]. Invest Ophthalmol Vis Sci 2014
41
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Alberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, Sander B Nabuurs, Renate C Zekveld-Vroon, Rob W J Collin, Elfride De Baere, Robert K Koenekoop, Mary J van Schooneveld, Tim M Strom,[...]. Am J Hum Genet 2009
Alberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, Sander B Nabuurs, Renate C Zekveld-Vroon, Rob W J Collin, Elfride De Baere, Robert K Koenekoop, Mary J van Schooneveld, Tim M Strom,[...]. Am J Hum Genet 2009
39
Gene therapy rescues cone function in congenital achromatopsia.
András M Komáromy, John J Alexander, Jessica S Rowlan, Monique M Garcia, Vince A Chiodo, Asli Kaya, Jacqueline C Tanaka, Gregory M Acland, William W Hauswirth, Gustavo D Aguirre. Hum Mol Genet 2010
András M Komáromy, John J Alexander, Jessica S Rowlan, Monique M Garcia, Vince A Chiodo, Asli Kaya, Jacqueline C Tanaka, Gregory M Acland, William W Hauswirth, Gustavo D Aguirre. Hum Mol Genet 2010
37
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
Naheed Wali Khan, Bernd Wissinger, Susanne Kohl, Paul A Sieving. Invest Ophthalmol Vis Sci 2007
Naheed Wali Khan, Bernd Wissinger, Susanne Kohl, Paul A Sieving. Invest Ophthalmol Vis Sci 2007
37
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene Gonzalez Menendez, Stanley Chang, Susanne C Beck, Marina Garcia Garrido, Vithiyanjali Sothilingam,[...]. Nat Genet 2015
Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene Gonzalez Menendez, Stanley Chang, Susanne C Beck, Marina Garcia Garrido, Vithiyanjali Sothilingam,[...]. Nat Genet 2015
37
CNGA3 mutations in hereditary cone photoreceptor disorders.
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, M Broghammer, B Jurklies, T Rosenberg,[...]. Am J Hum Genet 2001
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, M Broghammer, B Jurklies, T Rosenberg,[...]. Am J Hum Genet 2001
35
Genetic basis of total colourblindness among the Pingelapese islanders.
O H Sundin, J M Yang, Y Li, D Zhu, J N Hurd, T N Mitchell, E D Silva, I H Maumenee. Nat Genet 2000
O H Sundin, J M Yang, Y Li, D Zhu, J N Hurd, T N Mitchell, E D Silva, I H Maumenee. Nat Genet 2000
35
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Susanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, Britta Baumann, Carel B Hoyng, Herbert Jägle, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Roberto Salati,[...]. Eur J Hum Genet 2005
Susanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, Britta Baumann, Carel B Hoyng, Herbert Jägle, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Roberto Salati,[...]. Eur J Hum Genet 2005
33
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy.
Livia S Carvalho, Jianhua Xu, Rachael A Pearson, Alexander J Smith, James W Bainbridge, Lynsie M Morris, Steven J Fliesler, Xi-Qin Ding, Robin R Ali. Hum Mol Genet 2011
Livia S Carvalho, Jianhua Xu, Rachael A Pearson, Alexander J Smith, James W Bainbridge, Lynsie M Morris, Steven J Fliesler, Xi-Qin Ding, Robin R Ali. Hum Mol Genet 2011
33
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Koji M Nishiguchi, Michael A Sandberg, Nasim Gorji, Eliot L Berson, Thaddeus P Dryja. Hum Mutat 2005
Koji M Nishiguchi, Michael A Sandberg, Nasim Gorji, Eliot L Berson, Thaddeus P Dryja. Hum Mutat 2005
30
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
Jonathan P Greenberg, Jerome Sherman, Sandrine A Zweifel, Royce W S Chen, Tobias Duncker, Susanne Kohl, Britta Baumann, Bernd Wissinger, Lawrence A Yannuzzi, Stephen H Tsang. JAMA Ophthalmol 2014
Jonathan P Greenberg, Jerome Sherman, Sandrine A Zweifel, Royce W S Chen, Tobias Duncker, Susanne Kohl, Britta Baumann, Bernd Wissinger, Lawrence A Yannuzzi, Stephen H Tsang. JAMA Ophthalmol 2014
32
Diagnostic fundus autofluorescence patterns in achromatopsia.
Abigail T Fahim, Naheed W Khan, Sarwar Zahid, Ira H Schachar, Kari Branham, Susanne Kohl, Bernd Wissinger, Victor M Elner, John R Heckenlively, Thiran Jayasundera. Am J Ophthalmol 2013
Abigail T Fahim, Naheed W Khan, Sarwar Zahid, Ira H Schachar, Kari Branham, Susanne Kohl, Bernd Wissinger, Victor M Elner, John R Heckenlively, Thiran Jayasundera. Am J Ophthalmol 2013
46
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Bo Chang, Tanja Grau, Susann Dangel, Ron Hurd, Bernhard Jurklies, E Cumhur Sener, Sten Andreasson, Helene Dollfus, Britta Baumann, Sylvia Bolz,[...]. Proc Natl Acad Sci U S A 2009
Bo Chang, Tanja Grau, Susann Dangel, Ron Hurd, Bernhard Jurklies, E Cumhur Sener, Sten Andreasson, Helene Dollfus, Britta Baumann, Sylvia Bolz,[...]. Proc Natl Acad Sci U S A 2009
28
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia.
Ji-jing Pang, Wen-Tao Deng, Xufeng Dai, Bo Lei, Drew Everhart, Yumiko Umino, Jie Li, Keqing Zhang, Song Mao, Sanford L Boye,[...]. PLoS One 2012
Ji-jing Pang, Wen-Tao Deng, Xufeng Dai, Bo Lei, Drew Everhart, Yumiko Umino, Jie Li, Keqing Zhang, Song Mao, Sanford L Boye,[...]. PLoS One 2012
26
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.
Adam M Dubis, Robert F Cooper, Jonathan Aboshiha, Christopher S Langlo, Venki Sundaram, Benjamin Liu, Frederick Collison, Gerald A Fishman, Anthony T Moore, Andrew R Webster,[...]. Invest Ophthalmol Vis Sci 2014
Adam M Dubis, Robert F Cooper, Jonathan Aboshiha, Christopher S Langlo, Venki Sundaram, Benjamin Liu, Frederick Collison, Gerald A Fishman, Anthony T Moore, Andrew R Webster,[...]. Invest Ophthalmol Vis Sci 2014
26
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Lina Zelinger, Artur V Cideciyan, Susanne Kohl, Sharon B Schwartz, Ada Rosenmann, Dalia Eli, Alexander Sumaroka, Alejandro J Roman, Xunda Luo, Cassondra Brown,[...]. Ophthalmology 2015
Lina Zelinger, Artur V Cideciyan, Susanne Kohl, Sharon B Schwartz, Ada Rosenmann, Dalia Eli, Alexander Sumaroka, Alejandro J Roman, Xunda Luo, Cassondra Brown,[...]. Ophthalmology 2015
31
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.
Christopher S Langlo, Emily J Patterson, Brian P Higgins, Phyllis Summerfelt, Moataz M Razeen, Laura R Erker, Maria Parker, Frederick T Collison, Gerald A Fishman, Christine N Kay,[...]. Invest Ophthalmol Vis Sci 2016
Christopher S Langlo, Emily J Patterson, Brian P Higgins, Phyllis Summerfelt, Moataz M Razeen, Laura R Erker, Maria Parker, Frederick T Collison, Gerald A Fishman, Christine N Kay,[...]. Invest Ophthalmol Vis Sci 2016
26
Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function.
Stylianos Michalakis, Regine Mühlfriedel, Naoyuki Tanimoto, Vidhyasankar Krishnamoorthy, Susanne Koch, M Dominik Fischer, Elvir Becirovic, Lin Bai, Gesine Huber, Susanne C Beck,[...]. Mol Ther 2010
Stylianos Michalakis, Regine Mühlfriedel, Naoyuki Tanimoto, Vidhyasankar Krishnamoorthy, Susanne Koch, M Dominik Fischer, Elvir Becirovic, Lin Bai, Gesine Huber, Susanne C Beck,[...]. Mol Ther 2010
24
Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?
Mervyn G Thomas, Anil Kumar, Sarim Mohammad, Frank A Proudlock, Elizabeth C Engle, Caroline Andrews, Wai-Man Chan, Shery Thomas, Irene Gottlob. Ophthalmology 2011
Mervyn G Thomas, Anil Kumar, Sarim Mohammad, Frank A Proudlock, Elizabeth C Engle, Caroline Andrews, Wai-Man Chan, Shery Thomas, Irene Gottlob. Ophthalmology 2011
22
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
S Johnson, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, D M Hunt. J Med Genet 2004
S Johnson, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, D M Hunt. J Med Genet 2004
22
In vivo imaging of human cone photoreceptor inner segments.
Drew Scoles, Yusufu N Sulai, Christopher S Langlo, Gerald A Fishman, Christine A Curcio, Joseph Carroll, Alfredo Dubra. Invest Ophthalmol Vis Sci 2014
Drew Scoles, Yusufu N Sulai, Christopher S Langlo, Gerald A Fishman, Christine A Curcio, Joseph Carroll, Alfredo Dubra. Invest Ophthalmol Vis Sci 2014
22
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Peggy Reuter, Katja Koeppen, Thomas Ladewig, Susanne Kohl, Britta Baumann, Bernd Wissinger. Hum Mutat 2008
Peggy Reuter, Katja Koeppen, Thomas Ladewig, Susanne Kohl, Britta Baumann, Bernd Wissinger. Hum Mutat 2008
22
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
I A Aligianis, T Forshew, S Johnson, M Michaelides, C A Johnson, R C Trembath, D M Hunt, A T Moore, E R Maher. J Med Genet 2002
I A Aligianis, T Forshew, S Johnson, M Michaelides, C A Johnson, R C Trembath, D M Hunt, A T Moore, E R Maher. J Med Genet 2002
20
Restoration of cone vision in a mouse model of achromatopsia.
John J Alexander, Yumiko Umino, Drew Everhart, Bo Chang, Seok H Min, Qiuhong Li, Adrian M Timmers, Norman L Hawes, Ji-Jing Pang, Robert B Barlow,[...]. Nat Med 2007
John J Alexander, Yumiko Umino, Drew Everhart, Bo Chang, Seok H Min, Qiuhong Li, Adrian M Timmers, Norman L Hawes, Ji-Jing Pang, Robert B Barlow,[...]. Nat Med 2007
20
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Alberta A H J Thiadens, Susanne Roosing, Rob W J Collin, Norka van Moll-Ramirez, Janneke J C van Lith-Verhoeven, Mary J van Schooneveld, Anneke I den Hollander, L Ingeborgh van den Born, Carel B Hoyng, Frans P M Cremers,[...]. Ophthalmology 2010
Alberta A H J Thiadens, Susanne Roosing, Rob W J Collin, Norka van Moll-Ramirez, Janneke J C van Lith-Verhoeven, Mary J van Schooneveld, Anneke I den Hollander, L Ingeborgh van den Born, Carel B Hoyng, Frans P M Cremers,[...]. Ophthalmology 2010
21
In vivo imaging of the photoreceptor mosaic of a rod monochromat.
Joseph Carroll, Stacey S Choi, David R Williams. Vision Res 2008
Joseph Carroll, Stacey S Choi, David R Williams. Vision Res 2008
20
Rod and rod-driven function in achromatopsia and blue cone monochromatism.
Anne Moskowitz, Ronald M Hansen, James D Akula, Susan E Eklund, Anne B Fulton. Invest Ophthalmol Vis Sci 2009
Anne Moskowitz, Ronald M Hansen, James D Akula, Susan E Eklund, Anne B Fulton. Invest Ophthalmol Vis Sci 2009
36
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
Paul Yang, Keith V Michaels, Robert J Courtney, Yuquan Wen, Daniel A Greninger, Leah Reznick, Daniel J Karr, Lorri B Wilson, Richard G Weleber, Mark E Pennesi. JAMA Ophthalmol 2014
Paul Yang, Keith V Michaels, Robert J Courtney, Yuquan Wen, Daniel A Greninger, Leah Reznick, Daniel J Karr, Lorri B Wilson, Richard G Weleber, Mark E Pennesi. JAMA Ophthalmol 2014
42
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
Ditta Zobor, Annette Werner, Franco Stanzial, Francesco Benedicenti, Günther Rudolph, Ulrich Kellner, Christian Hamel, Sten Andréasson, Gergely Zobor, Torsten Strasser,[...]. Invest Ophthalmol Vis Sci 2017
Ditta Zobor, Annette Werner, Franco Stanzial, Francesco Benedicenti, Günther Rudolph, Ulrich Kellner, Christian Hamel, Sten Andréasson, Gergely Zobor, Torsten Strasser,[...]. Invest Ophthalmol Vis Sci 2017
31
Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders.
Ajoy Vincent, Tom Wright, Gail Billingsley, Carol Westall, Elise Héon. Ophthalmic Genet 2011
Ajoy Vincent, Tom Wright, Gail Billingsley, Carol Westall, Elise Héon. Ophthalmic Genet 2011
60
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
Shiqiang Li, Li Huang, Xueshan Xiao, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang. JAMA Ophthalmol 2014
Shiqiang Li, Li Huang, Xueshan Xiao, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang. JAMA Ophthalmol 2014
40
The cone dysfunction syndromes.
Jonathan Aboshiha, Adam M Dubis, Joseph Carroll, Alison J Hardcastle, Michel Michaelides. Br J Ophthalmol 2016
Jonathan Aboshiha, Adam M Dubis, Joseph Carroll, Alison J Hardcastle, Michel Michaelides. Br J Ophthalmol 2016
16
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
Christopher S Langlo, Laura R Erker, Maria Parker, Emily J Patterson, Brian P Higgins, Phyllis Summerfelt, Moataz M Razeen, Frederick T Collison, Gerald A Fishman, Christine N Kay,[...]. Retina 2017
Christopher S Langlo, Laura R Erker, Maria Parker, Emily J Patterson, Brian P Higgins, Phyllis Summerfelt, Moataz M Razeen, Frederick T Collison, Gerald A Fishman, Christine N Kay,[...]. Retina 2017
22
Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up.
Nashila Hirji, Michalis Georgiou, Angelos Kalitzeos, James W Bainbridge, Neruban Kumaran, Jonathan Aboshiha, Joseph Carroll, Michel Michaelides. Invest Ophthalmol Vis Sci 2018
Nashila Hirji, Michalis Georgiou, Angelos Kalitzeos, James W Bainbridge, Neruban Kumaran, Jonathan Aboshiha, Joseph Carroll, Michel Michaelides. Invest Ophthalmol Vis Sci 2018
34
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
Katja Koeppen, Peggy Reuter, Susanne Kohl, Britta Baumann, Thomas Ladewig, Bernd Wissinger. Eur J Neurosci 2008
Katja Koeppen, Peggy Reuter, Susanne Kohl, Britta Baumann, Thomas Ladewig, Bernd Wissinger. Eur J Neurosci 2008
28
Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope.
Alfredo Dubra, Yusufu Sulai, Jennifer L Norris, Robert F Cooper, Adam M Dubis, David R Williams, Joseph Carroll. Biomed Opt Express 2011
Alfredo Dubra, Yusufu Sulai, Jennifer L Norris, Robert F Cooper, Adam M Dubis, David R Williams, Joseph Carroll. Biomed Opt Express 2011
15
Molecular basis of an inherited form of incomplete achromatopsia.
Dimitri Tränkner, Herbert Jägle, Susanne Kohl, Eckart Apfelstedt-Sylla, Lindsay T Sharpe, U Benjamin Kaupp, Eberhart Zrenner, Reinhard Seifert, Bernd Wissinger. J Neurosci 2004
Dimitri Tränkner, Herbert Jägle, Susanne Kohl, Eckart Apfelstedt-Sylla, Lindsay T Sharpe, U Benjamin Kaupp, Eberhart Zrenner, Reinhard Seifert, Bernd Wissinger. J Neurosci 2004
19
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Wojciech Wiszniewski, Richard Alan Lewis, James R Lupski. Hum Genet 2007
Wojciech Wiszniewski, Richard Alan Lewis, James R Lupski. Hum Genet 2007
20
Achromatopsia: a review.
Meredith H Remmer, Neelesh Rastogi, Milan P Ranka, Emily J Ceisler. Curr Opin Ophthalmol 2015
Meredith H Remmer, Neelesh Rastogi, Milan P Ranka, Emily J Ceisler. Curr Opin Ophthalmol 2015
15
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia.
Eyal Banin, Elisha Gootwine, Alexey Obolensky, Raaya Ezra-Elia, Ayala Ejzenberg, Lina Zelinger, Hen Honig, Alexander Rosov, Esther Yamin, Dror Sharon,[...]. Mol Ther 2015
Eyal Banin, Elisha Gootwine, Alexey Obolensky, Raaya Ezra-Elia, Ayala Ejzenberg, Lina Zelinger, Hen Honig, Alexander Rosov, Esther Yamin, Dror Sharon,[...]. Mol Ther 2015
15
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.