Beverley H. Anderson

Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

Journal: Nature communications

Published: June 03, 2025

Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2.

Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2.

Journal: Scientific reports

Published: November 04, 2015

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

Journal: Ophthalmology

Published: June 18, 2015

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Journal: American journal of human genetics

Published: August 21, 2014

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Journal: American journal of medical genetics. Part A

Published: August 20, 2014

Further delineation of the KAT6B molecular and phenotypic spectrum.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Journal: European journal of human genetics : EJHG

Published: May 30, 2014

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Journal: Nature genetics

Published: January 01, 2014

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

Journal: Molecular syndromology

Published: November 16, 2013

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Journal: Human mutation

Published: September 04, 2012

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Journal: Nature genetics

Published: November 04, 2011

Showing 1-10 of 10

Last Updated: 09/26/2026