Erina Sasaki

Dublin, L, Ireland

Last Updated: 09/26/2026

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Found 15 publications

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

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

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 11, 2025

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Journal: European journal of human genetics : EJHG

Published: November 26, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: June 11, 2024

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 02, 2023

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

Journal: European journal of human genetics : EJHG

Published: April 27, 2023

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 27, 2022

HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.

HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.

Journal: Clinical genetics

Published: May 10, 2021

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 09, 2020

An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.

An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.

Journal: Clinical genetics

Published: September 23, 2020

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

Journal: American journal of medical genetics. Part A

Published: June 30, 2020

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.

Journal: European journal of human genetics : EJHG

Published: November 28, 2019

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Journal: Clinical genetics

Published: October 11, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026