Cornelius F. Boerkoel

机构：Sanford Health, University of British Columbia, Children's & Women's Health Centre of British Columbia, BC Children's Hospital, B.C. Women's Hospital & Health Centre · ORCID：0000-0003-3097-241X

发表论文 568 篇 · 总被引 10738 次 · h-index 48

代表论文

• De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor (2024 · Cellular and Molecular Life Sciences · 被引 16)
• Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability? (2023 · American Journal of Medical Genetics Part A · 被引 8)
• SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability (2024 · Annals of Neurology · 被引 7)
• Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes (2024 · Journal of Medical Genetics · 被引 3)
• Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis (2024 · American Journal of Medical Genetics Part A · 被引 3)
• Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC ‐related disorder (2023 · American Journal of Medical Genetics Part A · 被引 3)