Stylianos E. Antonarakis - Researcher Profile

Publications

7 shown

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen , Raymond Dalgleish , Donna Maglott +7 more

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics criti...

2016 Human Mutation 1593 citations

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen , Michael Sammeth , Marc R. Friedländer +54 more

2013 Nature 2095 citations

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur , Teri A. Manolio , David Dimmock +24 more

2014 Nature 1251 citations

Initial sequencing and comparative analysis of the mouse genome

R Waterston , Kerstin Lindblad‐Toh , Ewan Birney +97 more

2002 Nature 7145 citations

Identification of <i>cis</i>- and <i>trans</i>-regulatory variation modulating microRNA expression levels in human fibroblasts

Christelle Borel , Samuel Deutsch , Audrey Letourneau +11 more

MicroRNAs (miRNAs) are regulatory noncoding RNAs that affect the production of a significant fraction of human mRNAs via post-transcriptional regulation. Interindividual variati...

2010 Genome Research 76 citations