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Laura A Crinnion

Showing results (1-10 of 27) with videos related to

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Prenatal Diagnosis|January 11, 2022
Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosisChristopher M Watson, Deborah L Holliday, Laura A Crinnion, et al.
Journal of Medical Genetics|April 13, 2022
Long-read sequencing to resolve the parent of origin of a de novo pathogenic <i>UBE3A</i> variantChristopher Mark Watson, Lucy Jackson, Laura A Crinnion, et al.
Cancer Genetics|June 11, 2021
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architectureChristopher M Watson, Laura A Crinnion, Jennifer Simmonds, et al.
Genes and Immunity|March 10, 2022
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN diseaseChristopher M Watson, Fatima Nadat, Sammiya Ahmed, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology|February 5, 2019
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalitiesLesley Walker, Christopher M Watson, Sarah Hewitt, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 23, 2023
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 LocusBenjamin McClinton, Christopher M Watson, Laura A Crinnion, et al.
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|October 3, 2015
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasiaChristopher Mark Watson, Laura A Crinnion, Lindsay Gleghorn, et al.
Bioinformatics (Oxford, England)|April 12, 2015
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profilesAgne Antanaviciute, Catherine Daly, Laura A Crinnion, et al.
Journal of Clinical Immunology|April 17, 2019
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA DeficiencyChristopher M Watson, Claire Stockdale, Ian Berry, et al.
Plos One|June 9, 2016
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital SyndromeChristopher M Watson, Laura A Crinnion, Sally M Harrison, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Prenatal Diagnosis|January 11, 2022
Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosisChristopher M Watson, Deborah L Holliday, Laura A Crinnion, et al.
Journal of Medical Genetics|April 13, 2022
Long-read sequencing to resolve the parent of origin of a de novo pathogenic <i>UBE3A</i> variantChristopher Mark Watson, Lucy Jackson, Laura A Crinnion, et al.
Cancer Genetics|June 11, 2021
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architectureChristopher M Watson, Laura A Crinnion, Jennifer Simmonds, et al.
Genes and Immunity|March 10, 2022
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN diseaseChristopher M Watson, Fatima Nadat, Sammiya Ahmed, et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology|February 5, 2019
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalitiesLesley Walker, Christopher M Watson, Sarah Hewitt, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 23, 2023
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 LocusBenjamin McClinton, Christopher M Watson, Laura A Crinnion, et al.
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|October 3, 2015
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasiaChristopher Mark Watson, Laura A Crinnion, Lindsay Gleghorn, et al.
Bioinformatics (Oxford, England)|April 12, 2015
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profilesAgne Antanaviciute, Catherine Daly, Laura A Crinnion, et al.
Journal of Clinical Immunology|April 17, 2019
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA DeficiencyChristopher M Watson, Claire Stockdale, Ian Berry, et al.
Plos One|June 9, 2016
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital SyndromeChristopher M Watson, Laura A Crinnion, Sally M Harrison, et al.
Pageof 3