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Higher incidence of retinopathy of prematurity in extremely preterm infants associated with improved survival rates

Acta Paediatrica, 2020-10, Vol.109 (10), p.2033-2039

2020

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Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2546-2560

2021

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The role of the ERG in the diagnosis and treatment of Age-Related Macular Degeneration

Documenta ophthalmologica, 2009-02, Vol.118 (1), p.63-68

Gerth, Christina

2009

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Genotype–phenotype spectrum in isolated and syndromic nanophthalmos

Acta ophthalmologica (Oxford, England), 2021-06, Vol.99 (4), p.e594-e607

2021

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Colour vision testing in young children with reduced visual acuity

Acta ophthalmologica (Oxford, England), 2020-02, Vol.98 (1), p.e113-e120

2020

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Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort

International journal of molecular sciences, 2024-06, Vol.25 (12), p.6540

2024

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Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract

International journal of molecular sciences, 2023-12, Vol.24 (23), p.16594

2023

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Clinical Application of Rapid Serial Fourier-Domain Optical Coherence Tomography for Macular Imaging

Ophthalmology (Rochester, Minn.), 2006-08, Vol.113 (8), p.1425-1431

2006

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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

Molecular genetics & genomic medicine, 2013-05, Vol.1 (1), p.15-31

2013

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Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

International journal of molecular sciences, 2022-07, Vol.23 (13), p.7382

2022

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Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

International journal of molecular sciences, 2021-02, Vol.22 (4), p.1508

2021

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Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations

Journal of ophthalmology, 2021-05, Vol.2021, p.8870680-7

2021

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Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa

Genes, 2023-04, Vol.14 (4), p.934

2023

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A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Human molecular genetics, 2016-04, Vol.25 (7), p.1382-1391

2016

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Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Genes, 2021-01, Vol.12 (1), p.65

2021

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Optical Coherence Tomography and Magnetic Resonance Imaging in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder

International journal of molecular sciences, 2016-11, Vol.17 (11), p.1894-1894

2016

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Commentary: Outer Retinal Dysfunction on Multifocal Electroretinography May Help Differentiating Multiple Sclerosis From Neuromyelitis Optica Spectrum Disorder

Frontiers in neurology, 2020-04, Vol.11, p.282

2020

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Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene

PloS one, 2013-10, Vol.8 (10), p.e78529-e78529

2013

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Functional and Morphological Characteristics of the Retina of Patients with Drusen-like Deposits and Systemic Lupus Erythematosus Treated with Hydroxychloroquine: A Retrospective Study

Biomedicines, 2023-06, Vol.11 (6), p.1629

2023

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Long-Term Follow-Up in Children with Anisocoria: Cocaine Test Results and Patient Outcome

Journal of ophthalmology, 2017-01, Vol.2017, p.7575040-6

2017

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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

Translational vision science & technology, 2020-06, Vol.9 (7), p.47-47

2020

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Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Journal of AAPOS, 2008-12, Vol.12 (6), p.591-596

2008

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High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography

Journal of AAPOS, 2009-02, Vol.13 (1), p.72-74.e1

2009

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Outcome of Pediatric Cataract Surgeries in a Tertiary Center in Switzerland

Journal of ophthalmology, 2018-01, Vol.2018, p.3230489-10

2018

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Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus

Frontiers in neurology, 2018-03, Vol.9, p.151-151

2018

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Higher incidence of retinopathy of prematurity in extremely preterm infants associated with improved survival rates

Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

The role of the ERG in the diagnosis and treatment of Age-Related Macular Degeneration

Genotype–phenotype spectrum in isolated and syndromic nanophthalmos

Colour vision testing in young children with reduced visual acuity

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract

Clinical Application of Rapid Serial Fourier-Domain Optical Coherence Tomography for Macular Imaging

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Optical Coherence Tomography and Magnetic Resonance Imaging in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder

Commentary: Outer Retinal Dysfunction on Multifocal Electroretinography May Help Differentiating Multiple Sclerosis From Neuromyelitis Optica Spectrum Disorder

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene

Functional and Morphological Characteristics of the Retina of Patients with Drusen-like Deposits and Systemic Lupus Erythematosus Treated with Hydroxychloroquine: A Retrospective Study

Long-Term Follow-Up in Children with Anisocoria: Cocaine Test Results and Patient Outcome

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography

Outcome of Pediatric Cataract Surgeries in a Tertiary Center in Switzerland

Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus

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