C. Mattocks

发表

Critical points for an accurate human genome analysis

Jeroen F. J. Laros, S. van Vooren, A. Cambon-Thomsen, 2017, Human mutation.

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

P. Tarpey, D. Baralle, M. Bobrow, 2004, Journal of Medical Genetics.

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes

C. Mattocks, L. Docherty, R. Poole, 2010, Diabetologia.

Genetic diagnosis of familial breast cancer using clonal sequencing

Eamonn Sheridan, Graham R Taylor, D. Bonthron, 2010, Human mutation.

Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations

K. Boukas, Z. Deans, C. Mattocks, 2021, Clinical Microbiology and Infection.

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

D. Baralle, M. Patton, R. Winter, 2003, American journal of medical genetics. Part A.

Diagnostic accuracy of Loop mediated isothermal amplification coupled to Nanopore sequencing for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations

K. Boukas, Z. Deans, C. Mattocks, 2020, medRxiv.

Practice guidelines for Targeted Next Generation Sequencing Analysis and Interpretation

S. Ellard, Z. Deans, C. Mattocks, 2014 .

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

D. Baralle, C. Mattocks, M. Baralle, 2003, Journal of medical genetics.

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

M. Ligtenberg, G. Matthijs, C. Mattocks, 2010, Clinical chemistry.

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort

C. Mattocks, R. Pengelly, S. Ennis, 2017, Clinical & translational immunology.

Comparative sequence analysis.

P. Tarpey, C. Mattocks, J. Whittaker, 2004, Methods in molecular medicine.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

D. Baralle, F. Shawkat, C. Mattocks, 2017, Scientific Reports.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

D. Baralle, F. Shawkat, C. Mattocks, 2019, Scientific Reports.

AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes

Andrew M. Jenkinson, C. Greenman, Rebecca Shepherd, 2007, Bioinform..

Review of massively parallel DNA sequencing technologies

Caroline F. Wright, C. Mattocks, C. Wright, 2011, The HUGO Journal.

A novel germline gain-of-function variant in PIK3CD.

C. Mattocks, Anthony P. Williams, W. Rae, 2017, Clinical Immunology.

A standardized framework for the validation and verification of clinical molecular genetic tests

Andrew Wallace, Els Dequeker, Anniek Corveleyn, 2010, European Journal of Human Genetics.

Automated Extraction Methodologies

Chris Mattocks, C. Mattocks, 2004 .

A SNP profiling panel for sample tracking in whole-exome sequencing studies

C. Mattocks, R. Pengelly, S. Ennis, 2013, Genome Medicine.

Comparative sequence analysis (CSA): A new sequence‐based method for the identification and characterization of mutations in DNA

M Bobrow, M. Bobrow, C. Mattocks, 2000, Human mutation.

Clinical efficacy of a next‐generation sequencing gene panel for primary immunodeficiency diagnostics

C. Mattocks, R. Pengelly, D. Hunt, 2018, Clinical genetics.

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).

P. Tarpey, D. Baralle, M. Bobrow, 2005, Journal of medical genetics.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

David Hunt, Reuben J. Pengelly, Daniel Ward, 2020, Scientific Reports.

Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer.

L. Happerfield, M. Arends, C. Mattocks, 2006 .

Inter-laboratory diagnostic validation of conformation sensitive capillary electrophoresis

G. Matthijs, C. Mattocks, H. Scheffer, 2008 .

A SNP profiling panel for sample tracking in whole-exome sequencing studies

C. Mattocks, R. Pengelly, S. Ennis, 2013, Genome medicine.

Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms.

Helen E White, Daniel Ward, Matthew Lyon, 2015, Leukemia research.

Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

B. Shields, S. Ellard, C. Mattocks, 2009, Genetic testing and molecular biomarkers.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

C. Mattocks, R. Pengelly, D. Hunt, 2020, Scientific Reports.

Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations

K. Boukas, Z. Deans, C. Mattocks, 2021, Clinical Microbiology and Infection.