A. I. Hollander

发表

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

S. Beck, Marina Garcia Garrido, V. Sothilingam, 2015, Nature Genetics.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Leber congenital amaurosis: Genes, proteins and disease mechanisms

R. Roepman, F. Cremers, A. I. Hollander, 2008, Progress in Retinal and Eye Research.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, Dajiang J. Liu, Sara M. Willems, 2018, Nature Genetics.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2017, Nature Genetics.

Author Response: Genetic Testing and Clinical Characterization of Patients with Cone–Rod Dystrophy

F. Cremers, A. I. Hollander, R. Koenekoop, 2010 .

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2018, Nature Genetics.

Half‐dose photodynamic therapy followed by diode micropulse laser therapy as treatment for chronic central serous chorioretinopathy: evaluation of a prospective treatment protocol

J. Keunen, C. Hoyng, C. Boon, 2016, Acta ophthalmologica.

Environmental and genetic risk factors for retinal angiomatous proliferation

Yara T. E. Lechanteur, T. Ristau, B. Kirchhof, 2014, Acta ophthalmologica.

Efficacy of photodynamic therapy in steroid‐associated chronic central serous chorioretinopathy: a case–control study

J. Keunen, C. Hoyng, C. Boon, 2016, Acta ophthalmologica.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2018, Nature Genetics.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2019, Nature Genetics.

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open‐angle glaucoma

A. I. Hollander, R. Qamar, M. Khan, 2015, Clinical & experimental ophthalmology.

simulating STGD1/fundus flavimaculatus important cause of multifocal pattern dystrophy gene are an peripherin/RDS Mutations in the

C. Hoyng, T. Theelen, C. Boon, 2008 .

Crumbs (CRB) Genes

F. Cremers, E. Knust, A. I. Hollander, 2002 .

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2017, Nature Genetics.

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa with preserved para-arteriolar RPE (RP12).

Shomi S. Bhattacharya, F. Cremers, S. Bhattacharya, 2000 .

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

B. J. Klevering, A. D. den Hollander, J. Keunen, 2009, Progress in Retinal and Eye Research.

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

A. Deutman, A. D. den Hollander, H. Brunner, 1999, Nature Genetics.

Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain

A. Ballabio, J. Wijnholds, F. Cremers, 2002, Mechanisms of Development.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.

Ocular and extraocular features of patients with Leber congenital amaurosis and mutations in CEP 290

F. Cremers, S. Yzer, A. I. Hollander, 2017 .

Retina Clinical Characteristics of Rod and Cone Photoreceptor Dystrophies in Patients With Mutations in the C 8 orf 37 Gene

B. J. Klevering, C. Hoyng, Y. Rotenstreich, 2013 .

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

B. J. Klevering, F. Riemslag, C. Hoyng, 2015, Acta ophthalmologica.

BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

B. J. Klevering, E. Zrenner, D. Sharon, 2012 .

Glaucoma Genetics in Pakistan

T. Aung, C. Khor, A. I. Hollander, 2021 .

Cuticular drusen: Stars in the sky

B. J. Klevering, A. D. den Hollander, C. Hoyng, 2013, Progress in Retinal and Eye Research.

Number Variations of the Complement Component C 4 B Gene Are Associated With Chronic Central Serous Chorioretinopathy

C. Hoyng, S. Fauser, C. Boon, 2018 .

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

S. R. Krishnadas, Chaw Chaw Khaing, Y. Teo, 2016, Nature Genetics.

MPP 5 Recruits MPP 4 to the CRB 1 Complex in Photoreceptors

E. Krieger, S. Letteboer, R. Roepman, 2005 .

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

Gislin Dagnelie, Ava K. Bittner, Ronald A Schuchard, 2014, The Lancet.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2018, Nature Genetics.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2019, Nature Genetics.

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

A. Hoischen, F. Cremers, C. Gilissen, 2022, medRxiv.

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

A. D. den Hollander, F. Cremers, C. Hoyng, 2021, Human mutation.

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal Recessive Cone-Rod Dystrophy and Retinitis Pigmentosa with Early Macular Involvement

B. J. Klevering, D. Sharon, R. Roepman, 2012 .

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

C. Klaver, T. Strom, S. Nabuurs, 2009, American journal of human genetics.

Identification of Novel Mutations in Patients With Leber Congenital Amaurosis by Genome-Wide Homozygosity Mapping With SNP Microarrays

G. Fishman, F. Cremers, S. Yzer, 2007 .

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

B. J. Klevering, J. Veltman, A. D. den Hollander, 2012, American journal of human genetics.

Environmental and genetic risk factors for retinal angiomatous proliferation

B. Kirchhof, C. Hoyng, S. Fauser, 2014, Acta ophthalmologica.

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

C. Klaver, T. Strom, A. D. den Hollander, 2010, American journal of human genetics.

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

F. Riemslag, A. D. den Hollander, J. Keunen, 2012, Ophthalmology.