Mariet W. Elting

机构：Amsterdam University Medical Centers, University of Amsterdam · ORCID：0000-0002-0119-6928

发表论文 54 篇 · 总被引 2751 次 · h-index 26

代表论文

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021 · Human Genetics and Genomics Advances · 被引 161)
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum (2020 · The American Journal of Human Genetics · 被引 93)
Collagen transport and related pathways in Osteogenesis Imperfecta (2021 · Human Genetics · 被引 88)
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging (2020 · Prenatal Diagnosis · 被引 87)
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders (2022 · Human Mutation · 被引 82)
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome (2022 · The American Journal of Human Genetics · 被引 36)