C. Gerth-Kahlert

发表

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

James V. M. Hanson, D. Straumann, Ting-Feng Lin, 2018, Front. Neurol..

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches

A. Moore, C. Gerth-Kahlert, J. Sowden, 2017, European Journal of Human Genetics.

Senescent Changes and Topography of the Dark-Adapted Multifocal Electroretinogram

J. Werner, E. Sutter, C. Gerth-Kahlert, 2017, Investigative ophthalmology & visual science.

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

A. Swaroop, Tiansen Li, R. Ratnapriya, 2016, Human molecular genetics.

Outer Retinal Dysfunction in the Absence of Structural Abnormalities in Multiple Sclerosis.

James V. M. Hanson, N. Hagenbuch, S. Schippling, 2018, Investigative ophthalmology & visual science.

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

C. Gerth-Kahlert, M. Pompe, Jennifer Robinson, 2021, Journal of ophthalmology.

Colour vision testing in young children with reduced visual acuity

James V. M. Hanson, C. Gerth-Kahlert, O. Pfäffli, 2020, Acta ophthalmologica.

Intra-familial phenotype variability in patients with Jalili syndrome

James V. M. Hanson, W. Berger, C. Gerth-Kahlert, 2015, Eye.

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

T. Hothorn, C. Gerth-Kahlert, D. Bassler, 2020, Acta paediatrica.

Incidence of retinopathy of prematurity (ROP) and ROP treatment in Switzerland 2006–2015: a population-based analysis

C. Gerth-Kahlert, R. Pfister, D. Bassler, 2017, Archives of Disease in Childhood: Fetal and Neonatal Edition.

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

S. Feil, W. Berger, C. Gerth-Kahlert, 2020, Translational vision science & technology.

Explorer A Secreted WNT-Ligand Binding Domain of FZD 5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma

A. Swaroop, Tiansen Li, R. Ratnapriya, 2016 .

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

James V. M. Hanson, W. Berger, B. Lam, 2017, Investigative ophthalmology & visual science.

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

W. Berger, C. Gerth-Kahlert, A. Hackenberg, 2022, International journal of molecular sciences.

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis

James V. M. Hanson, F. Camassei, O. Devuyst, 2022, Human molecular genetics.

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.

C. Gerth-Kahlert, S. Grisanti, G. Witt, 2011, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Unusual retinopathy in a child with severe combined immune deficiency

James V. M. Hanson, W. Berger, C. Gerth-Kahlert, 2018, Ophthalmic genetics.

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

D. Fitzpatrick, C. Gerth-Kahlert, R. Guthoff, 2013, Molecular genetics & genomic medicine.

Iris cyst in a child with Aicardi syndrome: a novel association.

C. Gerth-Kahlert, J. Funk, L. Buser, 2016, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene

D. Schorderet, C. Gerth-Kahlert, H. Luder, 2013, PloS one.

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

C. Gerth-Kahlert, F. Fierz, 2017, Journal of ophthalmology.

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

S. Feil, W. Berger, C. Gerth-Kahlert, 2020, medRxiv.

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

Sven Schippling, Praveena Manogaran, James V. M. Hanson, 2016, International journal of molecular sciences.

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

S. Gallati, A. Schaller, C. Gerth-Kahlert, 2017, BMC Medical Genetics.

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

S. Feil, W. Berger, C. Gerth-Kahlert, 2021, JAMA ophthalmology.

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

F. Kivrak-Pfiffner, W. Berger, C. Gerth-Kahlert, 2019, Investigative ophthalmology & visual science.

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

W. Berger, C. Gerth-Kahlert, L. Berger, 2016, Scientific Reports.

Retinale Ziliopathien

C. Gerth-Kahlert, S. Koller, 2018, Klinische Monatsblätter für Augenheilkunde.

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

S. Feil, W. Berger, C. Gerth-Kahlert, 2021, Genes.

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

B. Tutschek, A. Rauch, C. Gerth-Kahlert, 2021, American journal of medical genetics. Part A.

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

S. Feil, W. Berger, C. Gerth-Kahlert, 2019, Human molecular genetics.

Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature

D. Timmann, P. Bauer, D. Straumann, 2015, Journal of Neurology.

A three-year longitudinal study of retinal function and structure in patients with multiple sclerosis

S. Schippling, C. Gerth-Kahlert, M. Ng, 2021, Documenta Ophthalmologica.

Longstanding diplopia after ethmoidal artery ligation for epistaxis

C. Gerth-Kahlert, D. Holzmann, M. Soyka, 2019, European Archives of Oto-Rhino-Laryngology.

Genotype–phenotype spectrum in isolated and syndromic nanophthalmos

S. Feil, W. Berger, K. Fasler, 2020, Acta ophthalmologica.

Retinal Ganglion Cell Topography in Patients With Visual Pathway Pathology

C. Gerth-Kahlert, K. Landau, W. Wichmann, 2017, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria.

W. Berger, P. Nürnberg, C. Gerth-Kahlert, 2018, Ophthalmology. Glaucoma.

Outcome of Pediatric Cataract Surgeries in a Tertiary Center in Switzerland

C. Gerth-Kahlert, J. Funk, D. Barthelmes, 2018, Journal of ophthalmology.

[Acute Acquired Comitant Esotropia Type 2 - A Retrospective Analysis].

C. Gerth-Kahlert, B. Simonsz-Tóth, Hansjoerg Geiger, 2021, Klinische Monatsblatter fur Augenheilkunde.

Infantile hemangiomas with conjunctival involvement: An underreported occurrence

C. Gerth-Kahlert, I. Frieden, E. Baselga, 2017, Pediatric dermatology.

Maculopathy following exposure to visible and infrared radiation from a laser pointer: a clinical case study

C. Gerth-Kahlert, M. Golling, M. Mangold, 2016, Documenta Ophthalmologica.

The “Eyelet Sign” as an MRI Clue for Inflammatory Brown Syndrome

C. Gerth-Kahlert, K. Landau, V. Sturm, 2021, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Outer Retinal Dysfunction in the Absence of Structural Abnormalities in Multiple Sclerosis.

N. Hagenbuch, S. Schippling, C. Gerth-Kahlert, 2018, Investigative ophthalmology & visual science.

Flicker electroretinogram in newborn infants

C. Gerth-Kahlert, D. Bassler, D. McCulloch, 2022, Documenta Ophthalmologica.

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

A. D. den Hollander, C. Westall, F. Cremers, 2016, Investigative ophthalmology & visual science.

Prediction of ROP Treatment and Evaluation of Screening Criteria in VLBW Infants–a Population Based Analysis

M. ROTH-KLEINER, C. Gerth-Kahlert, R. Pfister, 2018, Pediatric Research.

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

S. Feil, W. Berger, C. Gerth-Kahlert, 2023, Genes.

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

S. Schippling, C. Gerth-Kahlert, J. Hanson, 2020, Frontiers in Neurology.

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

S. Feil, C. Gerth-Kahlert, S. Koller, 2023, International journal of molecular sciences.

The effect of perinatal high-dose erythropoietin on retinal structural and vascular characteristics in children born preterm.

C. Gerth-Kahlert, J. Fauchère, F. Wehrle, 2024, American journal of ophthalmology.