Bas Vroling

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 17 publications

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Journal: Nature communications

Published: April 07, 2024

Understanding structure-guided variant effect predictions using 3D convolutional neural networks.

Understanding structure-guided variant effect predictions using 3D convolutional neural networks.

Journal: Frontiers in molecular biosciences

Published: April 11, 2023

Beyond rational-biosensor-guided isolation of 100 independently evolved bacterial strain variants and comparative analysis of their genomes.

Beyond rational-biosensor-guided isolation of 100 independently evolved bacterial strain variants and comparative analysis of their genomes.

Journal: BMC biology

Published: February 13, 2023

AmiP from hyperthermophilic Thermus parvatiensis prophage is a thermoactive and ultrathermostable peptidoglycan lytic amidase.

AmiP from hyperthermophilic Thermus parvatiensis prophage is a thermoactive and ultrathermostable peptidoglycan lytic amidase.

Journal: Protein science : a publication of the Protein Society

Published: November 23, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Journal: Genome medicine

Published: August 20, 2021

Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Journal: Cancer research

Published: June 08, 2021

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Journal: Nature genetics

Published: March 29, 2021

Going to extremes - a metagenomic journey into the dark matter of life.

Going to extremes - a metagenomic journey into the dark matter of life.

Journal: FEMS microbiology letters

Published: February 11, 2021

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Journal: Nature communications

Published: April 05, 2019

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Journal: American journal of medical genetics. Part A

Published: January 05, 2018

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Journal: Neuromuscular disorders : NMD

Published: March 10, 2017

GPCRdb: an information system for G protein-coupled receptors.

GPCRdb: an information system for G protein-coupled receptors.

Journal: Nucleic acids research

Published: December 08, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026