Mahmoud Y. Issa

机构：Royal National Orthopaedic Hospital, National Research Centre, Royal Hospital, University College London · ORCID：0000-0002-3899-2821

发表论文 93 篇 · 总被引 2278 次 · h-index 25

代表论文

• The contribution of de novo coding mutations to meningomyelocele (2025 · Nature · 被引 14)
• Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome (2023 · The American Journal of Human Genetics · 被引 9)
• The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children (2024 · Clinical Genetics · 被引 6)
• Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice (2025 · Proceedings of the National Academy of Sciences · 被引 4)
• Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities (2024 · npj Genomic Medicine · 被引 4)
• Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis (2024 · Human Genetics · 被引 4)