Stylianos E. Antonarakis

Researcher Next ID · RN-003831

Researcher · Biochemistry, Genetics and Molecular Biology

Geneva, Switzerland

Not currently recruitingFunding unknown

Research interests

Biochemistry, Genetics and Molecular Biology

Genomic variations and chromosomal abnormalities

Genetics and Neurodevelopmental Disorders

Genomics and Rare Diseases

Genomics and Chromatin Dynamics

RNA modifications and cancer

The complete sequence of a human genome
Science · 2022 · https://doi.org/10.1126/science.abj6987
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Human Mutation · 2016 · https://doi.org/10.1002/humu.22981
Transcriptome and genome sequencing uncovers functional variation in humans
Nature · 2013 · https://doi.org/10.1038/nature12531
Landscape of transcription in human cells
Nature · 2012 · https://doi.org/10.1038/nature11233
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Human Mutation · 2000 · https://doi.org/10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n

No projects listed.