Alison J. Coffey

19 Granta Park, Great Abington
Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2026

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Journal: The Lancet regional health. Europe

Published: March 07, 2026

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

Journal: Journal of molecular and cellular cardiology

Published: September 17, 2014

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.

Journal: Nature communications

Published: September 01, 2014

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Journal: European journal of human genetics : EJHG

Published: June 18, 2014

Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions.

Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions.

Journal: Blood

Published: October 26, 2013

A genetic study of Wilson's disease in the United Kingdom.

A genetic study of Wilson's disease in the United Kingdom.

Journal: Brain : a journal of neurology

Published: March 23, 2013

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

Journal: Basic research in cardiology

Published: February 27, 2013

A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling.

A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling.

Journal: PloS one

Published: March 21, 2012

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal: Journal of medical genetics

Published: December 03, 2011

Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.

Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.

Journal: Investigative genetics

Published: September 27, 2011

Showing 1-11 of 11

Last Updated: 09/26/2026