• A <em>de novo</em> variant in <em>PAK2</em> detected in an individual with Knobloch type 2 syndrome
• A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
• A phenotypic variant of Knobloch syndrome
• Acute Angle Closure in Knobloch Syndrome
• An Early Diagnostic Clue for <em>COL18A1-</em> and <em>LAMA1-</em>Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline
• Biallelic variants in <em>DNA2</em> cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
• Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome
• Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations
• Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
• Case Report: Novel Biallelic Variants in the <em>COL18A1</em> Gene in a Chinese Family With Knobloch Syndrome
• Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome
• Cataract surgery in Knobloch syndrome: a case report
• Characterization of drCol 15a1b: a novel component of the stem cell niche in the zebrafish retina
• Clinical phenocopies of albinism
• CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
• COL18A1 is a candidate eye iridocorneal angle-closure gene in humans
• Collagen XVIII in tissue homeostasis and dysregulation - Lessons learned from model organisms and human patients
• Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
• Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation
• Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome
• Complexity of the 5' Untranslated Region of <em>EIF4A3</em>, a Critical Factor for Craniofacial and Neural Development
• Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
• Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of <em>EFNB1</em>
• Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans
• Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects
• Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
• Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
• Drosophila type XV/XVIII collagen mutants manifest integrin mediated mitochondrial dysfunction, which is improved by cyclosporin A and losartan
• EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome
• Endostatin phenylalanines 31 and 34 define a receptor binding site
• Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate
• Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
• FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?
• Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis
• Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
• Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1
• Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice
• Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome
• Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
• Intraoperative discovery of lens dislocation in a child with Knobloch syndrome
• Knobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina
• Knobloch Syndrome - Triad of Occipital Encephalocele, Retino-Choroidal Detachment and Epilepsy
• Knobloch Syndrome Associated with Novel <em>COL18A1</em> Variants in Chinese Population
• Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population
• Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports
• Knobloch syndrome caused by homozygous frameshift mutation of the <em>COL18A1</em> gene in a Chinese pedigree
• Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree
• Knobloch syndrome in a patient from Chile
• Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic <em>COL18A1</em> Mutation: Case-Based Review
• Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review
• Knobloch syndrome on multimodal imaging: a case report
• Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report
• Knobloch syndrome: a case report
• Knobloch syndrome: a rare cause of paediatric retinal detachment
• Knobloch syndrome: novel intra-oral findings
• Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
• Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation
• Locus heterogeneity and Knobloch syndrome
• m<em>ir152</em> hypomethylation as a mechanism for non-syndromic cleft lip and palate
• Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome
• Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2
• MHC Variants Associated With Symptomatic <em>Versus</em> Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals
• Modeling Early Neural Crest Development via Induction from hiPSC-Derived Neural Plate Border-like Cells
• Molecular and Clinical Findings in Patients With Knobloch Syndrome
• Mutations in collagen 18A1 and their relevance to the human phenotype
• Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings
• New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2
• New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving <em>TWIST1</em> regulatory elements
• No evidence for locus heterogeneity in Knobloch syndrome
• Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
• Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome
• Optical Coherence Tomography in Knobloch Syndrome
• Paediatric retinal detachment and hereditary vitreoretinal disorders
• Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil
• Physiological role of collagen XVIII and endostatin
• Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1
• Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism
• Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
• Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair
• Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome
• Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum
• Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature
• Surgical Outcomes of Retinal Detachment in Knobloch Syndrome
• Syndromes, disorders and maternal risk factors associated with neural tube defects (V)
• Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
• The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
• The distinct ophthalmic phenotype of Knobloch syndrome in children
• The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome
• The multiple functions of collagen XVIII in development and disease
• The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype
• Three cases of molecularly confirmed Knobloch syndrome
• Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature
• Unexpected matrix diseases and novel therapeutic strategies
• Unexpected role of <em>SIX1</em> variants in craniosynostosis: expanding the phenotype of <em>SIX1</em>-related disorders
• Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority
• Updated consensus guidelines on the management of Phelan-McDermid syndrome
• Variable phenotype of Knobloch syndrome due to biallelic <em>COL18A1</em> mutations in children
• Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children
• Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability
• Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis