Erina Sasaki

7PUBLICATIONS
17CO-AUTHORS
Gene and molecular therapyInfant and child healthCardiology (incl. cardiovascular diseases)HaematologyNanoscale characterisation
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Apr 13, 2026
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio

|May 21, 2025
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Erina Sasaki, Philip Millington, Taisiia Sazonova

|Nov 26, 2024
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.

Verity Hartill, Mitra Kabir, Sunayna Best

|Sep 17, 2021
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.

Erina Sasaki, Ethna Phelan, Mary O'Regan

|Sep 25, 2020
Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

Erina Sasaki, Angela T Byrne, Dylan J Murray

|Jun 03, 2020
National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.

Erina Sasaki, Marija Kostocenko, Niamh Lang

Pageof 2

Frequent Collaborators

1 joint publications

David E Barton

1 joint publications

Verity Hartill

1 joint publications

Stephanie L Baross

1 joint publications

Jenny Lord