Maggie M. Williams

Bristol, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 43 publications

Human spinal interneurons repair the injured rat spinal cord through synaptic integration.

Human spinal interneurons repair the injured rat spinal cord through synaptic integration.

Journal: Science translational medicine

Published: August 05, 2026

Massive simple hepatic cyst triggered sudden cardiac arrest in a middle-aged, female patient due to compression of the right heart.

Massive simple hepatic cyst triggered sudden cardiac arrest in a middle-aged, female patient due to compression of the right heart.

Journal: Annals of the Royal College of Surgeons of England

Published: April 08, 2025

Human spinal interneurons repair the injured spinal cord through synaptic integration.

Human spinal interneurons repair the injured spinal cord through synaptic integration.

Journal: bioRxiv : the preprint server for biology

Published: January 23, 2024

A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.

A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.

Journal: Journal of nephrology

Published: May 22, 2023

Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Journal: European journal of human genetics : EJHG

Published: January 31, 2023

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Journal: Genome medicine

Published: February 09, 2022

Guidelines for Genetic Testing and Management of Alport Syndrome.

Guidelines for Genetic Testing and Management of Alport Syndrome.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: December 21, 2021

Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia.

Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia.

Journal: Global cardiology science & practice

Published: October 15, 2021

Basement membrane defects in CD151-associated glomerular disease.

Basement membrane defects in CD151-associated glomerular disease.

Journal: Pediatric nephrology (Berlin, Germany)

Published: August 27, 2021

Genetic testing for familial hypercholesterolemia-past, present, and future.

Genetic testing for familial hypercholesterolemia-past, present, and future.

Journal: Journal of lipid research

Published: May 03, 2021

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

Journal: Pediatric nephrology (Berlin, Germany)

Published: April 28, 2021

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.

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

Published: March 24, 2021

Showing 1-12 of 43

Last Updated: 09/26/2026