Charles A. Steward

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee.

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee.

Journal: European journal of medical genetics

Published: March 08, 2024

Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.

Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.

Journal: Epilepsia

Published: May 29, 2023

Unlocking sociocultural and community factors for the global adoption of genomic medicine.

Unlocking sociocultural and community factors for the global adoption of genomic medicine.

Journal: Orphanet journal of rare diseases

Published: March 04, 2022

The future of genomics in Ireland - focus on genomics for health.

The future of genomics in Ireland - focus on genomics for health.

Journal: HRB open research

Published: November 30, 2020

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Journal: European journal of human genetics : EJHG

Published: August 06, 2019

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Journal: NPJ genomic medicine

Published: May 31, 2019

Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.

Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.

Journal: Epilepsia

Published: November 26, 2017

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Journal: Genome medicine

Published: June 01, 2017

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

Journal: Nature communications

Published: April 20, 2016

Characterization of an Additional Splice Acceptor Site Introduced into CYP4B1 in Hominoidae during Evolution.

Characterization of an Additional Splice Acceptor Site Introduced into CYP4B1 in Hominoidae during Evolution.

Journal: PloS one

Published: May 21, 2015

Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic Mice.

Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic Mice.

Journal: Journal of immunology (Baltimore, Md. : 1950)

Published: October 20, 2014

Identification of the inflammasome Nlrp1b as the candidate gene conferring diabetes risk at the Idd4.1 locus in the nonobese diabetic mouse.

Identification of the inflammasome Nlrp1b as the candidate gene conferring diabetes risk at the Idd4.1 locus in the nonobese diabetic mouse.

Journal: Journal of immunology (Baltimore, Md. : 1950)

Published: April 09, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026