Publications by authors named "David T Bonthron"

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AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.
Christopher M Watson, Carolina Lascelles, Morag Raynor, Marilena Elpidorou, Ummey Hany, David T Bonthron

Biology (Basel)· June 2025

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Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.
Kieran Walker, Anoop Mistry, Christopher M Watson, Fatima Nadat, Eleanor O'Callaghan, David T Bonthron

J Clin Immunol· May 2025

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Homozygous variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, David T Bonthron

J Med Genet· March 2024

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Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.
Kieran Walker, Anoop Mistry, Christopher M Watson, Fatima Nadat, Eleanor O'Callaghan, David T Bonthron

J Clin Immunol· October 2023

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Long-read sequencing to resolve the parent of origin of a de novo pathogenic variant.
Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan

J Med Genet· November 2022

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Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.
Christopher M Watson, Deborah L Holliday, Laura A Crinnion, David T Bonthron

Prenat Diagn· February 2022

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Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.
Christopher M Watson, Laura A Crinnion, Jennifer Simmonds, Nick Camm, Julian Adlard, David T Bonthron

Cancer Genet· August 2021

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Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.
Christopher M Watson, Laura A Crinnion, Helen Lindsay, Rowena Mitchell, Nick Camm, David T Bonthron

Lab Invest· April 2021

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, David T Bonthron

Neuron· January 2021

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Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
Christopher M Watson, Philip Dean, Nick Camm, Jennifer Bates, Ian M Carr, David T Bonthron

Hum Mutat· February 2020

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Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.
Christopher M Watson, Laura A Crinnion, Sarah Hewitt, Jennifer Bates, Rachel Robinson, David T Bonthron

Lab Invest· January 2020

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An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities.
Lesley Walker, Christopher M Watson, Sarah Hewitt, Laura A Crinnion, David T Bonthron

J Obstet Gynaecol· April 2019

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RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.
Christopher M Watson, Claire Stockdale, Ian Berry, Laura A Crinnion, Ian M Carr, David T Bonthron

J Clin Immunol· April 2019

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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, Moara Lemos, Sebastian Hutchinson, David T Bonthron

Am J Hum Genet· November 2018

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Cantú syndrome with coexisting familial pituitary adenoma.
Pedro Marques, Rupert Spencer, Patrick J Morrison, Ian M Carr, Mary N Dang, David T Bonthron

Endocrine· March 2018

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Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.
Christopher M Watson, Nick Camm, Laura A Crinnion, Samuel Clokie, Rachel L Robinson, David T Bonthron

Mol Diagn Ther· December 2017

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Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.
Christopher M Watson, Nick Camm, Laura A Crinnion, Agne Antanaviciute, Julian Adlard, David T Bonthron

J Mol Diagn· November 2017

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A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes.
Claire E L Smith, Alexia Alexandraki, Sarah F Cordery, Rekha Parmar, David T Bonthron

PLoS One· November 2017

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m6aViewer: software for the detection, analysis, and visualization of -methyladenosine peaks from mA-seq/ME-RIP sequencing data.
Agne Antanaviciute, Belinda Baquero-Perez, Christopher M Watson, Sally M Harrison, Carolina Lascelles, David T Bonthron

RNA· October 2017

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A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.
Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, David T Bonthron

PLoS One· September 2017

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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, Carolina Lascelles, Agne Antanaviciute, David T Bonthron

PLoS One· July 2017

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A proposal for a new classification of complications in craniosynostosis surgery.
Dmitri Shastin, Sharron Peacock, Velu Guruswamy, Melpo Kapetanstrataki, David T Bonthron

J Neurosurg Pediatr· June 2017

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Genetics meets pathology - an increasingly important relationship.
David T Bonthron, William D Foulkes

J Pathol· January 2017

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Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Christine P Diggle, Stacey J Sukoff Rizzo, Michael Popiolek, Reetta Hinttala, Jan-Philip Schülke, David T Bonthron

Am J Hum Genet· April 2016

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A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.
James A Poulter, Claire E L Smith, Gina Murrillo, Sandra Silva, Sally Feather, David T Bonthron

Mol Genet Genomic Med· November 2015

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