Craig L. Hanis - Researcher Profile | RDL Research Database

Publications

3 shown

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin , Konrad J. Karczewski , Xiaolei Zhang +97 more

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...

2020 Nature Communications 171 citations

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Qingbo S. Wang , Emma Pierce‐Hoffman , Beryl B. Cummings +97 more

2020 Nature Communications 138 citations

The effect of LRRK2 loss-of-function variants in humans

Nicola Whiffin , Irina M. Armean , Aaron Kleinman +97 more

Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...

2020 Nature Medicine 106 citations

Frequent Co-Authors

Researcher Info

h-index: 3
Publications: 3
Citations: 415
Institution: The University of Texas Health Science Center at Houston

External Links

ORCID Profile Google Scholar

Identifiers

ORCID: 0000-0002-4880-5348

Impact Metrics

h-index 3

h-index: Number of publications with at least h citations each.