Lucy Jenkins
YOU?
Author Swipe
View article: 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 Open
Background: Parallel panel germline and somatic genetic testing of all patients with ovarian cancer (OC) can identify more pathogenic variants (PVs) that would benefit from PARP inhibitor (PARPi) therapy, and allow for precision prevention…
View article: 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 Open
Objective To evaluate patient preference for short (gist) or detailed/extensive decision aids (DA) for genetic testing at ovarian cancer (OC) diagnosis. Design Cohort study set within recruitment to the Systematic Genetic Testing for Perso…
View article: Two Brothers from Macedonia with Gitelman Syndrome
Two Brothers from Macedonia with Gitelman Syndrome Open
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndro…
View article: 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 Open
X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein…
View article: 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 Open
Objective To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS regional molec…
View article: 2022-RA-1443-ESGO Patient decision aids in genetic testing for women with ovarian cancer
2022-RA-1443-ESGO Patient decision aids in genetic testing for women with ovarian cancer Open
View article: 2022-RA-1310-ESGO Cost-effectiveness of unselected multigene germline and somatic genetic testing for epithelial ovarian cancer
2022-RA-1310-ESGO Cost-effectiveness of unselected multigene germline and somatic genetic testing for epithelial ovarian cancer Open
View article: 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 Open
We present findings of a cancer multidisciplinary-team (MDT) coordinated mainstreaming pathway of unselected 5-panel germline BRCA1/BRCA2/RAD51C/RAD51D/BRIP1 and parallel somatic BRCA1/BRCA2 testing in all women with epithelial-OC and high…
View article: 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 Open
Primary ciliary dyskinesia (PCD) is a rare genetic disorder of motile cilia dysfunction generally inherited as an autosomal recessive disease. Genetic testing is increasingly considered an early step in the PCD diagnostic workflow. We used…
View article: Author response for "Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia"
Author response for "Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia" Open
View article: Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications Open
BACKGROUND Noninvasive prenatal diagnosis (NIPD) for monogenic disorders has a high uptake by families. Since 2013, our accredited public health service laboratory has offered NIPD for monogenic disorders, predominantly for de novo or pate…
View article: Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome Open
Significance Statement Although steroid-sensitive nephrotic syndrome (SSNS) is considered an autoimmune disease, its etiology is poorly understood. Genome-wide association studies (GWAS) have provided important insights into other autoimmu…
View article: Issue Information
Issue Information Open
No abstract is available for this article.
View article: 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 Open
Objective To ensure accurate and appropriate reporting of non‐invasive prenatal testing (NIPT) results, the standard of testing should be measured and monitored by participation in external quality assessment (EQA) schemes. The findings fr…
View article: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Open
View article: Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus Open
View article: 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 Open
Background Rare genetic conditions are frequent risk factors for, or direct causes of, paediatric intensive care unit (PICU) admission. Such conditions are frequently suspected but unidentified at PICU admission. Compassionate and effectiv…
View article: C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia Open
View article: 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 Open
Background Rare genetic conditions are frequent risk factors for, or direct causes of, organ failure requiring paediatric intensive care unit (PICU) support. Such conditions are frequently suspected but unidentified at PICU admission. Comp…
View article: Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies Open
View article: Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice
Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice Open
The identification of cell‐free fetal DNA circulating in maternal blood combined with technological developments, in particular next‐generation sequencing, is enabling the development of safer prenatal diagnosis. While this technology has …
View article: <i>C11orf70</i> mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins
<i>C11orf70</i> mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins Open
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomised left-right body asymmetry. PCD is mostly caused by …
View article: Clinical and diagnostic features of Bartter and Gitelman syndromes
Clinical and diagnostic features of Bartter and Gitelman syndromes Open
Patients with Bartter and Gitelman syndromes had a satisfactory prognosis during childhood. However, decreased eGFR and pathologic proteinuria was evident in a large number of these patients, highlighting the need to monitor glomerular as …
View article: High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations Open
Rationale Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated preva…
View article: Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis Open
The high diagnostic yield and accuracy of this comprehensive targeted gene panel validate the use of broad NGS-based testing for patients with suspected AID.
View article: Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion
Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion Open
Objective Non‐invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently avail…
View article: Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one Open
View article: Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children
Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children Open
View article: Clinical and molecular aspects of distal renal tubular acidosis in children
Clinical and molecular aspects of distal renal tubular acidosis in children Open
View article: X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 Open