Laura A. Crinnion

St James's University Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

15h-index667citations36works0.02yr avg
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Research Topics

Genomics and Phylogenetic Studies(7), Genomic variations and chromosomal abnormalities(7), Genomics and Rare Diseases(7), Cancer Genomics and Diagnostics(5), Chromosomal and Genetic Variations(4)

Publications36 total

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data
Biology·2025Open Access
Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
Journal of Clinical Immunology·2025Open Access
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells
Molecular Diagnosis & Therapy·2023· 8 citedOpen Access
Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
Journal of Clinical Immunology·2023· 6 citedOpen Access
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus
Laboratory Investigation·2023· 10 citedOpen Access
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
Molecular Genetics & Genomic Medicine·2023· 7 citedOpen Access
Long-read sequencing to resolve the parent of origin of a de novo pathogenic <i>UBE3A</i> variant
Journal of Medical Genetics·2022· 4 cited
Inherited CD19 deficiency impairs signaling in plasma cells
Research Square (Research Square)·2022· 1 citedOpen Access
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease
Genes and Immunity·2022· 12 citedOpen Access
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis
Prenatal Diagnosis·2022· 16 citedOpen Access
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities
Figshare·2022Open Access
Using Oxford Nanopore long-range sequencing to phase ABCA4
Investigative Ophthalmology & Visual Science·2021· 1 citedOpen Access
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture
Cancer Genetics·2021· 4 cited
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
Laboratory Investigation·2020· 15 citedOpen Access
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications
Laboratory Investigation·2019· 44 citedOpen Access
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
Journal of Clinical Immunology·2019· 1 cited
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities
Journal of Obstetrics and Gynaecology·2019· 5 cited
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities
Figshare·2019Open Access
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
The American Journal of Human Genetics·2018· 68 citedOpen Access
Biallelic Mutations in <i>LRRC56</i> encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects
2018· 3 citedOpen Access
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Frequent Co-authors

Christopher M. Watson(36), David T. Bonthron(29), Ian Carr(21), Eamonn Sheridan(10), Sally M. Harrison(9), Alexander F. Markham(9), Carolina Lascelles(7), Agne Antanaviciute(7), James A. Poulter(5), Sarah Hewitt(5), Julian Adlard(5), Nick Camm(5), Sinisa Savic(5), Chris F. Inglehearn(5), Ruth Charlton(4), Fatima Nadat(4), Clive Carter(4), Manir Ali(4), Carmel Toomes(4), Ian Berry(3)