Publications by authors named "Marcus Hinchcliffe"

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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Amali C Mallawaarachchi, Ben Lundie, Yvonne Hort, Nicole Schonrock, Sarah R Senum, Marcus Hinchcliffe

Eur J Hum Genet· May 2021

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Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test.
Bennett O V Shum, Ilya Henner, Daniele Belluoccio, Marcus J Hinchcliffe

J Mol Diagn· July 2017

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Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c.
Victoria L Rudland, Marcus Hinchcliffe, Jason Pinner, Stuart Cole, Belinda Mercorella

Diabetes Care· January 2016

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Managing incidental findings in exome sequencing for research.
Marcus J Hinchcliffe

Methods Mol Biol· January 2015

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Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting.
Marcus Hinchcliffe, Huong Le, Anthony Fimmel, Laura Molloy, Lucinda Freeman

Pathology· January 2014

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In silico analysis of the exome for gene discovery.
Marcus Hinchcliffe, Paul Webster

Methods Mol Biol· November 2011

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Computer-assisted reading of DNA sequences.
Huong Le, Marcus Hinchcliffe, Bing Yu, Ronald J A Trent

Methods Mol Med· June 2008

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Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing.
Ronald J Trent, Boyd Webster, Donald K Bowden, Anne Gilbert, P Joy Holl, Marcus Hinchcliffe

Pathology· December 2006

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