Laura A. Crinnion

St. James's University Hospital
Leeds, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

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

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.

Journal: Bioinformatics (Oxford, England)

Published: March 17, 2025

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.

Journal: Molecular diagnosis & therapy

Published: May 18, 2023

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.

Journal: Molecular genetics & genomic medicine

Published: November 28, 2022

Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus.

Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus.

Journal: Laboratory investigation; a journal of technical methods and pathology

Published: September 21, 2022

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

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.

Journal: Genes and immunity

Published: October 05, 2021

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

Showing 1-12 of 32

Last Updated: 09/26/2026