Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian Berry, +7

BMC Medical Genetics

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

Serge Bonnefoy, Christopher M. Watson, Kristin D. Kernohan, +21

The American Journal of Human Genetics

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia

Christopher M. Watson, Laura A. Crinnion, Lindsay Gleghorn, +4

South African Medical Journal

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

Christopher M. Watson, Laura A. Crinnion, Sarah Hewitt, +6

Laboratory Investigation

Dna SequencingSingle-molecule SequencingSequencingFunctional GenomicsGenomic Duplications +13

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Christopher M. Watson, Laura A. Crinnion, Sally M. Harrison, +5

PLoS ONE

m6aViewer: software for the detection, analysis, and visualization of<i>N</i>⁶-methyladenosine peaks from m⁶A-seq/ME-RIP sequencing data

Agne Antanaviciute, Belinda Baquero-Pérez, Christopher M. Watson, +7

RNA

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface

Christopher M. Watson, Laura A. Crinnion, Joanne Morgan, +10

Human Mutation

Genetic TestingEngineeringGeneticsGenetic EpidemiologyPathology +22

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Christine P. Diggle, Isabel Martínez‐Garay, Zoltán Molnár, +17

PLoS ONE

SpermatogenesisTubulin Alpha 8FertilityBrain DevelopmentGenetics +27

Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

Christopher M. Watson, Laura A. Crinnion, Antigoni Tzika, +10

American Journal of Medical Genetics Part A

Cntnap2 Deficiency SyndromeEngineeringWhole Genome SequencingSplit‐read MappingGenetic Disorder +12

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles

Agne Antanaviciute, Catherine Daly, Laura A. Crinnion, +4

Bioinformatics