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1 . Academic Journal
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
저자
by
Watson, Christopher M.
;
Crinnion, Laura A.
;
Lindsay, Helen
;
Mitchell, Rowena
;
Camm, Nick
, et al.
소스
In
Laboratory Investigation
April 2021 101(4):442-449
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7 . Academic Journal
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications
저자
by
Watson, Christopher M.
;
Crinnion, Laura A.
;
Hewitt, Sarah
;
Bates, Jennifer
;
Robinson, Rachel
, et al.
소스
In
Laboratory Investigation
January 2020 100(1):135-146
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7 . Academic Journal
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
저자
by
Luyckx, Ilse
;
Walton, Isaac Scott
;
Boeckx, Nele
;
Van Schil, Kristof
;
Chingyiu Pang
, et al.
소스
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p363-368, 13p
Full Text (BMJ Journals)
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7 . Academic Journal
Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.
저자
by
Walker, Kieran
;
Mistry, Anoop
;
Watson, Christopher M.
;
Nadat, Fatima
;
O'Callaghan, Eleanor
, et al.
소스
Journal of Clinical Immunology
. Oct2023, Vol. 43 Issue 7, p1543-1556. 14p.
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7 . Academic Journal
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture
저자
by
Watson, Christopher M.
;
Crinnion, Laura A.
;
Simmonds, Jennifer
;
Camm, Nick
;
Adlard, Julian
, et al.
소스
In
Cancer Genetics
August 2021 256-257:122-126
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7 . Dissertation/ Thesis
The role of 15-hydroxyprostaglandin dehydrogenase in breast cancer
저자
by
Allinson, Lisa Marie
;
Carr, Ian M.
;
Diggle, Christine P.
;
Bonthron, David T.
;
Achuthan, Rajgopal
, et al.
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7 . Dissertation/ Thesis
Modification of the epigenome as a potential therapy for breast cancer
저자
by
Berteau, Caroline Anne
;
Valleley, Elizabeth M. A.
;
Carr, Ian M.
;
Bonthron, David T.
.
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6 . Academic Journal
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant.
저자
by
Watson, Christopher Mark
;
Jackson, Lucy
;
Crinnion, Laura A.
;
Bonthron, David T.
;
Sheridan, Eamonn
.
소스
Journal of Medical Genetics; Nov2022, Vol. 59 Issue 11, p1082-1086, 5p
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7 . Academic Journal
Detection by fluorescence in situ hybridization of microdeletions at 1p36 in lymphomas, unidentified on cytogenetic analysis
저자
by
Rajgopal, Achuthan
;
Carr, Ian M.
;
Leek, Jack P.
;
Hodge, Donald
;
Bell, Sandra M.
, et al.
소스
In
Cancer Genetics and Cytogenetics
2003 142(1):46-50
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7 . Academic Journal
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.
저자
by
Watson, Christopher M.
;
Holliday, Deborah L.
;
Crinnion, Laura A.
;
Bonthron, David T.
.
소스
Prenatal Diagnosis; Feb2022, Vol. 42 Issue 2, p226-232, 7p
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