Publications by authors named "Lucy Jenkins"

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Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.
Monika Sobocan, Dhivya Chandrasekaran, Michail Sideris, Oleg Blyuss, Caitlin Fierheller, Lucy A Jenkins

BJOG· May 2024

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Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer.
Ranjit Manchanda, Li Sun, Monika Sobocan, Isabel V Rodriguez, Xia Wei, Lucy A Jenkins

J Natl Compr Canc Netw· April 2024

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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.
Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Lucy Jenkins

J Med Genet· July 2023

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A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in , and Skewed X-Inactivation.
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins

Genes (Basel)· May 2023

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Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
Dhivya Chandrasekaran, Monika Sobocan, Oleg Blyuss, Rowan E Miller, Olivia Evans, Lucy A Jenkins

Cancers (Basel)· August 2021

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The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
Rhiannon Mellis, Natalie Chandler, Lucy Jenkins, Lyn S Chitty

Prenat Diagn· June 2020

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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Mahmoud R Fassad, Mitali P Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Lucy Jenkins

J Med Genet· May 2020

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Reply.
Jane C Sowden, Aara Patel, Annegret Dahlmann-Noor, Thomas Cullup, Lucy Jenkins

Ophthalmology· April 2020

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Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Mahmoud R Fassad, Walaa I Shoman, Heba Morsy, Mitali P Patel, Nesrine Radwan, Lucy Jenkins

Clin Genet· March 2020

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Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
Natalie J Chandler, Helena Ahlfors, Suzanne Drury, Rhiannon Mellis, Melissa Hill, Lucy Jenkins

Clin Chem· January 2020

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Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
Stephanie Dufek, Chris Cheshire, Adam P Levine, Richard S Trompeter, Naomi Issler, Lucy Jenkins

J Am Soc Nephrol· August 2019

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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Aara Patel, Jane D Hayward, Vijay Tailor, Rodney Nyanhete, Helena Ahlfors, Lucy Jenkins

Ophthalmology· June 2019

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Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Weronika Gutowska-Ding

Prenat Diagn· April 2019

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Lucy Jenkins

Lancet· February 2019

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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Mahmoud R Fassad, Amelia Shoemark, Marie Legendre, Robert A Hirst, France Koll, Lucy Jenkins

Am J Hum Genet· December 2018

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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, Suzanne Drury, Louise Ocaka, Lucy Jenkins

J Med Genet· November 2018

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Clinical and diagnostic features of Bartter and Gitelman syndromes.
Patrick R Walsh, Yincent Tse, Emma Ashton, Daniela Iancu, Lucy Jenkins

Clin Kidney J· June 2018

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Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine-Titanium Complex.
Laurence R Doyle, Ashley J Wooles, Lucy C Jenkins, Floriana Tuna, Eric J L McInnes

Angew Chem Int Ed Engl· May 2018

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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Lucy Jenkins

Am J Hum Genet· May 2018

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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Emma J Ashton, Anne Legrand, Valerie Benoit, Isabelle Roncelin, Annabelle Venisse, Lucy A Jenkins

Kidney Int· April 2018

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High prevalence of p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P Patel, Evelyn A Robson, Lucy Jenkins

Thorax· February 2018

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Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice.
Lucy A Jenkins, Zandra C Deans, Celine Lewis, Stephanie Allen

Prenat Diagn· January 2018

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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Lucy Jenkins

PLoS One· October 2017

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Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings

Prenat Diagn· July 2017

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Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children.
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Lucy Jenkins

Pediatr Nephrol· June 2017

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