• A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
• A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome
• ATR promotes cilia signalling: links to developmental impacts
• ATR regulates neuronal activity by modulating presynaptic firing
• Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
• Case report: Compound heterozygous <em>NUP85</em> variants cause autosomal recessive primary microcephaly
• Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review
• Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
• Delineating the phenotype of RNU4ATAC-related spliceosomopathy
• Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy
• Further delineation of the phenotype caused by biallelic variants in the WDR4 gene
• Growth in individuals with Saul-Wilson syndrome
• Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
• Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review
• Modifier Genes in Microcephaly: A Report on <em>WDR62</em>, <em>CEP63</em>, <em>RAD50</em> and <em>PCNT</em> Variants Exacerbating Disease Caused by Biallelic Mutations of <em>ASPM</em> and <e
• Nanocellulose-Based Interpenetrating Polymer Network (IPN) Hydrogels for Cartilage Applications
• Nucleolar residence of the seckel syndrome protein TRAIP is coupled to ribosomal DNA transcription
• Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature
• Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
• Siblings Seckel's syndrome 1 caused by ATR gene variants in a sibpair
• The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso)
• TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
• Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model