Samuel J. Clokie
Birmingham, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 20 publications
Real-World Multicentre Evaluation of GALEAS Bladder for Detecting Bladder Cancer in UK NHS Haematuria Clinics.
Journal: European urology oncology
Published: March 31, 2026
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Journal: Cancers
Published: March 01, 2024
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Journal: Nature communications
Published: July 31, 2023
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Journal: European journal of human genetics : EJHG
Published: April 27, 2022
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.
Journal: Journal of clinical medicine
Published: September 30, 2020
Resource: A multi-species multi-timepoint transcriptome database and webpage for the pineal gland and retina.
Journal: Journal of pineal research
Published: April 09, 2020
Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders.
Journal: The Journal of molecular diagnostics : JMD
Published: November 26, 2019
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Journal: Endocrine connections
Published: December 07, 2018
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.
Journal: The British journal of ophthalmology
Published: August 02, 2018
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Journal: American journal of human genetics
Published: November 04, 2017
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.
Journal: Molecular diagnosis & therapy
Published: October 08, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Journal: American journal of human genetics
Published: October 07, 2017
Last Updated: 09/26/2026