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Elke de Boer | doi.page

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Elke de Boer

Allen Institute for Brain Science(US)Radboud University Nijmegen(NL)Radboud University Medical Center(NL)

Publications by Year

Research Areas

Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Cancer Genomics and Diagnostics

Most-Cited Works

→ Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
→ SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females(2021)89 cited
→ SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype(2021)79 cited
→ PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework(2023)68 cited
→ The regulation of human globin gene switching(1993)61 cited
→ Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction(2021)54 cited

→ De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay(2020)

54 cited

→ Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders(2019)43 cited

→ Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis(2023)34 cited

→ Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein(2022)29 cited