Song Sun

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 21 publications

A missense variant effect map for the human tumor-suppressor protein CHK2.

A missense variant effect map for the human tumor-suppressor protein CHK2.

Journal: American journal of human genetics
Published: February 29, 2024

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.

Journal: Genome biology
Published: April 26, 2022

Improved pathogenicity prediction for rare human missense variants.

Improved pathogenicity prediction for rare human missense variants.

Journal: American journal of human genetics
Published: December 03, 2021

Improved pathogenicity prediction for rare human missense variants.

Improved pathogenicity prediction for rare human missense variants.

Journal: American journal of human genetics
Published: May 24, 2021

Shifting landscapes of human MTHFR missense-variant effects.

Shifting landscapes of human MTHFR missense-variant effects.

Journal: American journal of human genetics
Published: January 19, 2021

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.

Journal: eLife
Published: April 17, 2020

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Journal: Genome medicine
Published: June 09, 2019

Assessing predictions on fitness effects of missense variants in calmodulin.

Assessing predictions on fitness effects of missense variants in calmodulin.

Journal: Human mutation
Published: April 18, 2019

A web application and service for imputing and visualizing missense variant effect maps.

A web application and service for imputing and visualizing missense variant effect maps.

Journal: Bioinformatics (Oxford, England)
Published: July 31, 2018

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.

Journal: eLife
Published: July 14, 2018

A framework for exhaustively mapping functional missense variants.

A framework for exhaustively mapping functional missense variants.

Journal: Molecular systems biology
Published: December 23, 2017

Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I.

Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I.

Journal: Human mutation
Published: May 29, 2017
Showing 1-12 of 21

Last Updated: 09/26/2026