Suzanne Drury

Hinxton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 20 publications

The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.

The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.

Journal: Prenatal diagnosis

Published: December 11, 2023

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review.

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review.

Journal: BJOG : an international journal of obstetrics and gynaecology

Published: September 21, 2020

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Journal: Human mutation

Published: August 23, 2019

Diagnosis of fetal abnormalities using exome sequencing: translating research into practice.

Diagnosis of fetal abnormalities using exome sequencing: translating research into practice.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: July 17, 2019

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.

Journal: Clinical chemistry

Published: April 10, 2019

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Journal: Journal of medical genetics

Published: April 09, 2018

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

Journal: Advances in experimental medicine and biology

Published: October 19, 2016

Cell-Free Fetal DNA Testing for Prenatal Diagnosis.

Cell-Free Fetal DNA Testing for Prenatal Diagnosis.

Journal: Advances in clinical chemistry

Published: September 21, 2016

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

Journal: Journal of Crohn's & colitis

Published: June 16, 2016

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Journal: Brain : a journal of neurology

Published: April 22, 2016

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

Journal: Prenatal diagnosis

Published: December 31, 2015

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Journal: Prenatal diagnosis

Published: April 24, 2015

Showing 1-12 of 20

Last Updated: 09/26/2026