Sandra Jansen

机构：Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Leuven Stem Cell Institute, KU Leuven · ORCID：0000-0001-9453-8124

发表论文 94 篇 · 总被引 4053 次 · h-index 34

代表论文

• The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (2018 · Genetics in Medicine · 被引 138)
• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018 · Nature Communications · 被引 125)
• KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation (2020 · Brain · 被引 120)
• Phenotypes and genotypes in individuals with SMC1A variants (2017 · American Journal of Medical Genetics Part A · 被引 97)
• De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome (2017 · The American Journal of Human Genetics · 被引 81)
• PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework (2023 · Nature Genetics · 被引 80)