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1 . Academic Journal
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
저자
by
Benjamin McClinton
;
Laura A. Crinnion
;
Martin McKibbin
;
Rajarshi Mukherjee
;
James A. Poulter
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Open Access (Wiley)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
저자
by
Kieran Walker
;
Anoop Mistry
;
Christopher M. Watson
;
Fatima Nadat
;
Eleanor O’Callaghan
, et al.
소스
Journal of Clinical Immunology
.
Open Access (OpenAIRE)
Scopus
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7 .
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease
저자
by
Christopher M. Watson
;
Fatima Nadat
;
Sammiya Ahmed
;
Laura A. Crinnion
;
Sean O’Riordan
, et al.
소스
Genes & Immunity
. 23:66-72
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus
저자
by
Benjamin McClinton
;
Christopher M. Watson
;
Laura A. Crinnion
;
Martin McKibbin
;
Manir Ali
, et al.
소스
Laboratory Investigation
. 103:100160
Full Text (ScienceDirect O/A)
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7 .
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
저자
by
David T. Bonthron
;
Rachel Robinson
;
Rowena E. Mitchell
;
Christopher M. Watson
;
Sérgio D.J. Pena
, et al.
소스
Laboratory Investigation
. 101:442-449
Full Text (ScienceDirect O/A)
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7 .
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications
저자
by
Christopher M. Watson
;
Ian M. Carr
;
Sarah Hewitt
;
David T. Bonthron
;
Laura A. Crinnion
, et al.
소스
Laboratory investigation; a journal of technical methods and pathology
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
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7 .
Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis
저자
by
Christopher M. Watson
;
Deborah L. Holliday
;
Laura A. Crinnion
;
David T. Bonthron
.
소스
Prenatal diagnosis
. 42(2)
Open Access (OpenAIRE)
Scopus
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6 .
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
저자
by
Sinisa Savic
;
Laura A. Crinnion
;
David T. Bonthron
;
Claire Stockdale
;
Ian M. Carr
, et al.
소스
Journal of Clinical Immunology
. 39:270-273
Open Access (OpenAIRE)
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7 .
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture
저자
by
David T. Bonthron
;
Christopher M. Watson
;
Julian Adlard
;
Jennifer Simmonds
;
Nick Camm
, et al.
소스
Cancer genetics
.
Scopus
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7 .
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads
저자
by
Samuel Clokie
;
Ruth Charlton
;
David T. Bonthron
;
Nick Camm
;
Laura A. Crinnion
, et al.
소스
Molecular Diagnosis & Therapy
. 21:685-692
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