Cristina Dias
机构:King's College London, Guy's and St Thomas' NHS Foundation Trust, Great Ormond Street Hospital for Children NHS Foundation Trust, The Francis Crick Institute · ORCID:0000-0001-5411-4984
发表论文 41 篇 · 总被引 1164 次 · h-index 16
代表论文
- Neurodegeneration associated with genetic defects in phospholipase A 2 (2008 · Neurology · 被引 269)
- BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription (2016 · The American Journal of Human Genetics · 被引 168)
- New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of fiveELNmutations (2011 · Human Mutation · 被引 135)
- Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation (2017 · Proceedings of the National Academy of Sciences · 被引 76)
- Pioneer factor ASCL1 cooperates with the mSWI/SNF complex at distal regulatory elements to regulate human neural differentiation (2023 · Genes & Development · 被引 64)
- Infantile neuroaxonal dystrophy: What's most important for the diagnosis? (2008 · European Journal of Paediatric Neurology · 被引 63)