Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
41300747 (PubMed )
Supplement: genes-16-01295-s001.zip › genes-3843318-supplementary.pdf
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41256177 (PubMed )
Supplement: media-2.xlsx › Table_S6
CRB2 depletion induces YAP signaling and disrupts mechanosensing in podocytes.
Sun Y et al.
American Journal of Physiology. Renal Physiology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
CRB2 Depletion Induces YAP Signaling and Disrupts Mechanosensing in Podocytes.
Sun Y et al.
Biorxiv : the Preprint Server for Biology, 2024
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A et al.
Acta Neuropathologica Communications, 2023
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Adutwum M et al.
Clinical Genetics, 2023
Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports.
Lu J et al.
World Journal of Clinical Cases, 2021
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R et al.
Clinical Genetics, 2016
Select a paper to view details