Lucy A. Jenkins

Great Ormond Street Hospital
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 39 publications

Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.

Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.

Journal: BJOG : an international journal of obstetrics and gynaecology

Published: April 29, 2023

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

Journal: Genes

Published: April 19, 2023

Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer.

Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer.

Journal: Journal of the National Comprehensive Cancer Network : JNCCN

Published: September 30, 2022

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.

Journal: Journal of medical genetics

Published: July 01, 2022

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.

Journal: Cancers

Published: July 08, 2021

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Journal: Ophthalmology

Published: December 19, 2019

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.

Journal: Prenatal diagnosis

Published: December 10, 2019

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Journal: Clinical genetics

Published: August 20, 2019

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Journal: Journal of medical genetics

Published: August 13, 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

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

Journal: Prenatal diagnosis

Published: August 29, 2018

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Journal: Ophthalmology

Published: August 03, 2018

Showing 1-12 of 39

Last Updated: 09/26/2026