Andrew E. Timms

机构：Seattle Children's Hospital · ORCID：0000-0002-8808-4012

发表论文 129 篇 · 总被引 5792 次 · h-index 41

代表论文

• Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids (2022 · Developmental Cell · 被引 90)
• Clinical, neuroimaging and molecular characteristics of PPP2R5D -related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis (2022 · Journal of Medical Genetics · 被引 31)
• Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders (2022 · Brain · 被引 23)
• Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis -Regulatory Elements (2022 · Translational Vision Science & Technology · 被引 14)
• The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis (2021 · The Journal of Immunology · 被引 13)
• Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing (2024 · American Journal of Medical Genetics Part A · 被引 6)