David T. Bonthron

Leeds, ENG LS74SA, United Kingdom

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 51 publications

Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Journal: Journal of clinical immunology
Published: May 29, 2025

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.

Journal: Biology
Published: April 11, 2025

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Journal: Journal of medical genetics
Published: January 17, 2023

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Journal: Journal of clinical immunology
Published: March 28, 2022

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant.

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant.

Journal: Journal of medical genetics
Published: January 19, 2022

Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.

Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.

Journal: Prenatal diagnosis
Published: June 30, 2021

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Journal: Cancer genetics
Published: October 21, 2020

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Journal: Laboratory investigation; a journal of technical methods and pathology
Published: August 13, 2020

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Journal: Neuron
Published: November 21, 2019

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Journal: Human mutation
Published: May 15, 2019

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

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

Journal: Laboratory investigation; a journal of technical methods and pathology
Published: February 27, 2019

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities.

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities.

Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
Published: February 05, 2019
Showing 1-12 of 51

Last Updated: 09/26/2026