Publications by authors named "Sarah Leigh"

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, Pamela Ajuyah, Marie B Balzotti, Sarah E Leigh

Genet Med Open· April 2025

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Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
Ivone U S Leong, Claudia P Cabrera, Valentina Cipriani, Paul J Ross, Richard M Turner, Sarah E A Leigh

J Clin Oncol· February 2025

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, Pamela Ajuyah, Marie Balzotti, Sarah Leigh

medRxiv· November 2024

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Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Joshua Nolan, James Buchanan, John Taylor, Joao Almeida, Tina Bedenham, Sarah Leigh

Genet Med· March 2024

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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Sarah Leigh

Genet Med· February 2024

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Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Sarah Leigh

medRxiv· April 2023

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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Marina T DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S Alkuraya, Joanna Amberger, Sarah E Leigh

Genet Med· August 2022

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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Joana R Chora, Michael A Iacocca, Lukáš Tichý, Hannah Wand, C Lisa Kurtz, Sarah E Leigh

Genet Med· February 2022

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Zornitza Stark, Rebecca E Foulger, Eleanor Williams, Bryony A Thompson, Chirag Patel, Sarah Leigh

Am J Hum Genet· September 2021

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Antonio Rueda Martin, Eleanor Williams, Rebecca E Foulger, Sarah Leigh, Louise C Daugherty

Nat Genet· November 2019

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ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Michael A Iacocca, Joana R Chora, Alain Carrié, Tomáš Freiberger, Sarah E Leigh

Hum Mutat· November 2018

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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Amy C Sturm, Joshua W Knowles, Samuel S Gidding, Zahid S Ahmad, Catherine D Ahmed, Sarah E Leigh

J Am Coll Cardiol· August 2018

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The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Sarah Leigh, Marta Futema, Ros Whittall, Alison Taylor-Beadling, Maggie Williams

J Med Genet· April 2017

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Editor-in-Chief's report 2015.
Steve E Humphries, Sarah Leigh

Atherosclerosis· January 2016

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Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.
Amna Khamis, Jutta Palmen, Nick Lench, Alison Taylor, Ebele Badmus, Sarah Leigh

Eur J Hum Genet· June 2015

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Editor-in-Chief's report 2014.
Steve E Humphries, Sarah Leigh

Atherosclerosis· March 2015

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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Marta Futema, Ros A Whittall, Amy Kiley, Louisa K Steel, Jackie A Cooper, Sarah E Leigh

Atherosclerosis· July 2013

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Mutation detection in Croatian patients with familial hypercholesterolemia.
Ivan Pećin, Ros Whittall, Marta Futema, Jadranka Sertić, Zeljko Reiner, Sarah E A Leigh

Ann Hum Genet· January 2013

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Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Ebele Usifo, Sarah E A Leigh, Ros A Whittall, Nicholas Lench, Alison Taylor

Ann Hum Genet· September 2012

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Commentary PCSK9 variants: A new database.
Sarah E A Leigh, Trond P Leren, Steve E Humphries

Atherosclerosis· March 2009

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What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
Steve E Humphries, Gail Norbury, Sarah Leigh, S Gaye Hadfield, Devikair Nair

Curr Opin Lipidol· August 2008

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