Eamonn Sheridan

Introduction to genomics in primary care

I. Rafi, J. Hayward, Alexandra Whiter, 2020 .

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic

I. Rafi, Emily R Beales, J. Hayward, 2021, Genetics in Medicine.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Surveillance and Outbreak Report

R. Guy, Alan P. Johnson, E. Sheridan, 2022 .

Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK

S. Sharif, Shenaz Ahmed, Mushtaq Ahmed, 2012, Prenatal diagnosis.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

PMS2 mutations in childhood cancer.

D. Bonthron, B. Hayward, E. Maher, 2006, Journal of the National Cancer Institute.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

Diagnosis of fetal submicroscopic chromosomal abnormalities in failed array CGH samples: copy number by sequencing as an alternative to microarrays for invasive fetal testing

S. Berri, P. Roberts, H. Wood, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

M. Hurles, P. Danecek, K. Samocha, 2024, medRxiv.