Emma B. Ramsay

Sutton Upon Derwent, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

The electronic whiteboard in the Combined Assessment Unit - innovation in flow, governance and process efficiency.

The electronic whiteboard in the Combined Assessment Unit - innovation in flow, governance and process efficiency.

Journal: Future healthcare journal

Published: August 01, 2019

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Journal: Oncotarget

Published: January 08, 2019

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Journal: Human molecular genetics

Published: June 26, 2018

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.

Journal: Wellcome open research

Published: May 25, 2017

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Journal: Wellcome open research

Published: May 02, 2017

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Journal: American journal of human genetics

Published: December 07, 2016

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.

Journal: Nature genetics

Published: July 08, 2016

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Journal: Nature genetics

Published: March 30, 2016

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.

Journal: F1000Research

Published: March 22, 2016

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

Journal: Scientific reports

Published: March 16, 2016

The ICR1000 UK exome series: a resource of gene variation in an outbred population.

The ICR1000 UK exome series: a resource of gene variation in an outbred population.

Journal: F1000Research

Published: September 10, 2015

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Journal: Nature genetics

Published: July 10, 2015

Showing 1-12 of 21

Last Updated: 09/26/2026