US Health Resource Utilization and Cost Burden Associated with Choroideremia

por Dong, Shaobin, Tsao, Nicole, Hou, Qiang, Bozkaya, Duygu, Leroy, Bart P
Publicado 2021

Hydroxychloroquine hitting the headlines—retinal considerations

por Downes, Susan M., Leroy, Bart P., Sharma, Srilakshmi M., Sivaprasad, Sobha, Dollfus, Hélène
Publicado 2020

Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation

por Accou, Geraldine P. B. M., Nerinckx, Fanny, Leroy, Bart P., De Zaeytijd, Julie
Publicado 2020

Genetic testing and diagnosis of inherited retinal diseases

por Lam, Byron L., Leroy, Bart P., Black, Graeme, Ong, Tuyen, Yoon, Dan, Trzupek, Karmen
Publicado 2021

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

por Gliem, Martin, Zaeytijd, Julie De, Finger, Robert P., Holz, Frank G., Leroy, Bart P., Issa, Peter Charbel
Publicado 2013

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

por Saelaert, Marlies, Mertes, Heidi, Moerenhout, Tania, Van Cauwenbergh, Caroline, Leroy, Bart P., Devisch, Ignaas, De Baere, Elfride
Publicado 2021

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

por Naessens, Sarah, De Zaeytijd, Julie, Syx, Delfien, Vandenbroucke, Roosmarijn E., Smeets, Frédéric, Van Cauwenbergh, Caroline, Leroy, Bart P., Peelman, Frank, Coppieters, Frauke
Publicado 2019

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

por Van Schil, Kristof, Karlstetter, Marcus, Aslanidis, Alexander, Dannhausen, Katharina, Azam, Maleeha, Qamar, Raheel, Leroy, Bart P., Depasse, Fanny, Langmann, Thomas, De Baere, Elfride
Publicado 2016

Retinal Development in Infants and Young Children with Achromatopsia

por Lee, Helena, Purohit, Ravi, Sheth, Viral, McLean, Rebecca J., Kohl, Susanne, Leroy, Bart P., Sundaram, Venki, Michaelides, Michel, Proudlock, Frank A., Gottlob, Irene
Publicado 2015

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA

por Men, Clara J., Bujakowska, Kinga M., Comander, Jason, Place, Emily, Bedoukian, Emma C., Zhu, Xiaosong, Leroy, Bart P., Fulton, Anne B., Pierce, Eric A.
Publicado 2017

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review

por Leroy, Bart P., Birch, David G., Duncan, Jacque L., Lam, Byron L., Koenekoop, Robert K., Porto, Fernanda B. O., Russell, Stephen R., Girach, Aniz
Publicado 2021

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

por Strubbe, Ine, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, De Jaegere, Sarah, De Bruyne, Marieke, Rosseel, Toon, Van de Sompele, Stijn, De Baere, Elfride, Leroy, Bart P.
Publicado 2021

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

por Mukhopadhyay, Rajarshi, Sergouniotis, Panagiotis I., Mackay, Donna S., Day, Alexander C., Wright, Genevieve, Devery, Sophie, Leroy, Bart P., Robson, Anthony G., Holder, Graham E., Li, Zheng, Webster, Andrew R.
Publicado 2010

Abnormal retinal development associated with FRMD7 mutations

por 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
Publicado 2014

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

por Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Guillemyn, Brecht, De Jaegere, Sarah, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere, Elfride
Publicado 2019

A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy

por Aleman, Tomas S, Miller, Alexander J, Maguire, Katherine H, Aleman, Elena M, Serrano, Leona W, O’Connor, Keli B, Bedoukian, Emma C, Leroy, Bart P, Maguire, Albert M, Bennett, Jean
Publicado 2021

Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience

por Chan, Hwei Wuen, Van den Broeck, Filip, Cools, Axelle, Walraedt, Sophie, Joniau, Inge, Verdin, Hannah, Balikova, Irina, Van Nuffel, Stefaan, Delbeke, Patricia, De Baere, Elfride, Leroy, Bart P., Nerinckx, Fanny
Publicado 2023

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

por Van Cauwenbergh, Caroline, Van Schil, Kristof, Cannoodt, Robrecht, Bauwens, Miriam, Van Laethem, Thalia, De Jaegere, Sarah, Steyaert, Wouter, Sante, Tom, Menten, Björn, Leroy, Bart P., Coppieters, Frauke, De Baere, Elfride
Publicado 2017

Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum

por Nollet, Lukas, Van Gils, Matthias, Fischer, Suzanne, Campens, Laurence, Karthik, Swapna, Pasch, Andreas, De Zaeytijd, Julie, Leroy, Bart P., Devos, Daniel, De Backer, Tine, Coucke, Paul J., Vanakker, Olivier M.
Publicado 2022

Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations

por Bujakowska, Kinga M., Fernandez-Godino, Rosario, Place, Emily, Cosugar, Mark, Navarro-Gomez, Daniel, White, Joseph, Bedoukian, Emma C., Zhu, Xiaosong, Xie, Hongbo M., Gai, Xiaowu, Leroy, Bart P., Pierce, Eric A.
Publicado 2016