Rachel L. Robinson

St James's University Hospital
Leeds, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 33 publications

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).

Journal: medRxiv : the preprint server for health sciences

Published: July 30, 2026

Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.

Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.

Journal: European journal of human genetics : EJHG

Published: June 03, 2026

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls.

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Journal: Journal of medical genetics

Published: March 22, 2026

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

Journal: American journal of medical genetics. Part A

Published: December 19, 2025

EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

Journal: European journal of human genetics : EJHG

Published: November 28, 2025

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: medRxiv : the preprint server for health sciences

Published: June 26, 2025

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: American journal of human genetics

Published: May 15, 2025

Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.

Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.

Journal: American journal of human genetics

Published: March 07, 2025

Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.

Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.

Journal: American journal of human genetics

Published: February 04, 2025

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 28, 2024

Showing 1-12 of 33

Last Updated: 09/26/2026