Christopher J. Mattocks
Salisbury, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 8 publications
Comparison of Mendeliome exome capture kits for use in clinical diagnostics.
Journal: Scientific reports
Published: September 16, 2019
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
Journal: Scientific reports
Published: April 03, 2019
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
Journal: Clinical & translational immunology
Published: March 28, 2017
A novel germline gain-of-function variant in PIK3CD.
Journal: Clinical immunology (Orlando, Fla.)
Published: March 13, 2017
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Journal: Scientific reports
Published: January 31, 2017
Critical points for an accurate human genome analysis.
Journal: Human mutation
Published: September 12, 2016
Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.
Journal: Genome medicine
Published: April 14, 2015
A SNP profiling panel for sample tracking in whole-exome sequencing studies.
Journal: Genome medicine
Published: July 22, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026