Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.
Shu QM et al.
Human Genomics, 2025
Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Vasilyeva T et al.
Genes, 2024
Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.
Alzaben KA et al.
Ophthalmology. Retina, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.
Arepalli S et al.
Ophthalmic Genetics, 2022
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
Patel CK et al.
Ophthalmic Genetics, 2022
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.
Chong SC et al.
Frontiers in Neurology, 2022
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Villanueva-Mendoza C et al.
Genes, 2021
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger N et al.
European Journal of Ophthalmology, 2021
An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.
Wang P et al.
Frontiers in Cell and Developmental Biology, 2021
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2020
Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome.
Alsulaiman SM et al.
Ophthalmology. Retina, 2020
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
Zhang LS et al.
International Journal of Ophthalmology, 2018