Publications by authors named "Christopher Mattocks"

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Comparison of Mendeliome exome capture kits for use in clinical diagnostics.
Reuben J Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis

Sci Rep· February 2020

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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
Luke O'Gorman, Chelsea S Norman, Luke Michaels, Tutte Newall, Andrew H Crosby, Christopher Mattocks

Sci Rep· September 2019

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Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
William Rae, Daniel Ward, Christopher J Mattocks, Yifang Gao, Reuben J Pengelly

Clin Transl Immunology· September 2017

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Critical points for an accurate human genome analysis.
Stefan J White, Jeroen F J Laros, Egbert Bakker, Anne Cambon-Thomsen, Martin Eden, Christopher Mattocks

Hum Mutat· August 2017

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A novel germline gain-of-function variant in PIK3CD.
William Rae, Yifang Gao, Daniel Ward, Christopher J Mattocks, Efrem Eren

Clin Immunol· August 2017

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Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Chelsea S Norman, Luke O'Gorman, Jane Gibson, Reuben J Pengelly, Diana Baralle, Christopher Mattocks

Sci Rep· June 2017

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Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.
Reuben J Pengelly, Jane Gibson, Gaia Andreoletti, Andrew Collins, Christopher J Mattocks

Genome Med· May 2015

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A SNP profiling panel for sample tracking in whole-exome sequencing studies.
Reuben J Pengelly, Jane Gibson, Gaia Andreoletti, Andrew Collins, Christopher J Mattocks

Genome Med· May 2014

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Review of massively parallel DNA sequencing technologies.
Sowmiya Moorthie, Christopher J Mattocks, Caroline F Wright

Hugo J· December 2011

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A standardized framework for the validation and verification of clinical molecular genetic tests.
Christopher J Mattocks, Michael A Morris, Gert Matthijs, Elfriede Swinnen, Anniek Corveleyn

Eur J Hum Genet· December 2010

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Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.
Christopher J Mattocks, Gemma Watkins, Daniel Ward, Tom Janssens, Ermanno A J Bosgoed

Clin Chem· April 2010

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Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.
Sian Ellard, Beverley Shields, Carolyn Tysoe, Rebecca Treacy, Shu Yau, Christopher Mattocks

Genet Test Mol Biomarkers· June 2009

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