CUB and Sushi domains-containing CSMD proteins are involved in neuron development. Variants in the CSMD1-3 paralogs were GWAS-associated with cognition, attention-deficit hyperactivity disorder (ADHD), schizophrenia and brain structure, suggesting that these genes could be linked to neurodevelopmental disorders (NDD)....
C. Pailler-Pradeau, M. Lemée, Caterina Cevallos et al.· medRxiv· 0 citations
Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...
M. Singh, S. Stenton, E. Groopman et al.· medRxiv· 0 citations
RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.
A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al.· medRxiv· 0 citations
By leveraging specialized approaches for prioritizing pseudogenes, combined with the PCG and snRNA analysis, the genes and variants expand the variant pathogenicity spectrum of spliceosomopathies and suggest variants for follow-up case series and future functional validation.
O. Messaoud, S. DiTroia, R. Tarawneh et al.· medRxiv· 0 citations
Clinical utility in South African children with neurodevelopmental disorders is assessed and under-representation of African populations may limit clinical performance and equity of AI-based facial phenotyping tools.
Z. Bruwer, Hendrike Mc Donald, M. Zieff et al.· European Journal of Human Ge...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
