Lyn S. Chitty
机构:Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, University College London · ORCID:0000-0002-4857-7138
发表论文 558 篇 · 总被引 21366 次 · h-index 80
代表论文
- Benefits for children with suspected cancer from routine whole-genome sequencing (2024 · Nature Medicine · 被引 43)
- ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service (2024 · Prenatal Diagnosis · 被引 24)
- An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol (2024 · BMJ Open · 被引 23)
- Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis (2023 · Prenatal Diagnosis · 被引 23)
- Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications (2023 · Expert Review of Molecular Diagnostics · 被引 22)
- The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis (2024 · Prenatal Diagnosis · 被引 16)