Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Por Vergult, Sarah, Leroy, Bart, Claerhout, Ilse, Menten, Björn
Publicado em 2013

CUGC for congenital primary aphakia

Por Sarkar, Hajrah, Moore, William, Leroy, Bart P, Moosajee, Mariya
Publicado no Eur J Hum Genet (2018)

Hydroxychloroquine hitting the headlines—retinal considerations

Por Downes, Susan M., Leroy, Bart P., Sharma, Srilakshmi M., Sivaprasad, Sobha, Dollfus, Hélène
Publicado no Eye (Lond) (2020)

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 em 2013

The dynamical signature of anhedonia in major depressive disorder: positive emotion dynamics, reactivity, and recovery

Por Heininga, Vera E., Dejonckheere, Egon, Houben, Marlies, Obbels, Jasmien, Sienaert, Pascal, Leroy, Bart, van Roy, Joris, Kuppens, Peter
Publicado no BMC Psychiatry (2019)

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

Por Ramsden, Simon C, Davidson, Alice E, Leroy, Bart P, Moore, Anthony T, Webster, Andrew R, Black, Graeme C M, Manson, Forbes D C
Publicado em 2012

Detailed Functional and Structural Phenotype of Bietti Crystalline Dystrophy Associated with Mutations in CYP4V2 Complicated by Choroidal Neovascularization

Por Fuerst, Nicole M., Serrano, Leona, Han, Grace, Morgan, Jessica I. W., Maguire, Albert M., Leroy, Bart P., Kim, Benjamin J., Aleman, Tomas S.
Publicado no Ophthalmic Genet (2016)

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 no Hum Mutat (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 no Sci Rep (2016)

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

Por Coppieters, Frauke , Leroy, Bart P. , Beysen, Diane , Hellemans, Jan , De Bosscher, Karolien , Haegeman, Guy , Robberecht, Kirsten , Wuyts, Wim , Coucke, Paul J. , De Baere, Elfride 
Publicado em 2007

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 no Ophthalmology (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 no Mol Vis (2017)

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 em 2010

The human visual cortex responds to gene therapy–mediated recovery of retinal function

Por Ashtari, Manzar, Cyckowski, Laura L., Monroe, Justin F., Marshall, Kathleen A., Chung, Daniel C., Auricchio, Alberto, Simonelli, Francesca, Leroy, Bart P., Maguire, Albert M., Shindler, Kenneth S., Bennett, Jean
Publicado em 2011

The human visual cortex responds to gene therapy–mediated recovery of retinal function

Por Ashtari, Manzar, Cyckowski, Laura L., Monroe, Justin F., Marshall, Kathleen A., Chung, Daniel C., Auricchio, Alberto, Simonelli, Francesca, Leroy, Bart P., Maguire, Albert M., Shindler, Kenneth S., Bennett, Jean
Publicado em 2011

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 em 2014

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Por Lehmann, Ordan J., Ebenezer, Neil D., Jordan, Tim, Fox, Margaret, Ocaka, Louise, Payne, Annette, Leroy, Bart P., Clark, Brian J., Hitchings, Roger A., Povey, Sue, Khaw, Peng T., Bhattacharya, Shomi S.
Publicado em 2000

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 no Clin Genet (2019)

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 no Genet Med (2017)

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 no Genet Med (2016)