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1 . Academic Journal
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
저자
by
Jamie M. Ellingford
;
Joo Wook Ahn
;
Richard D. Bagnall
;
Diana Baralle
;
Stephanie Barton
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
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7 . Academic Journal
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
저자
by
Charlie Rowlands
;
Huw B. Thomas
;
Jenny Lord
;
Htoo A. Wai
;
Gavin Arno
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy
저자
by
Katherine A. Wood
;
Jamie M. Ellingford
;
James Eden
;
Huw B. Thomas
;
Raymond T. O’Keefe
, et al.
소스
Cardiogenetics, Vol 11, Iss 2, Pp 73-83 (2021)
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7 . Academic Journal
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability
저자
by
D. Gareth Evans
;
Elke M. van Veen
;
Emma R. Woodward
;
Elaine F. Harkness
;
Jamie M. Ellingford
, et al.
소스
Cancers, Vol 13, Iss 16, p 4154 (2021)
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7 . Academic Journal
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders
저자
by
David J. Green
;
Shalaw R. Sallah
;
Jamie M. Ellingford
;
Simon C. Lovell
;
Panagiotis I. Sergouniotis
.
소스
Genes, Vol 11, Iss 2, p 179 (2020)
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7 .
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome
저자
by
Yanshan Liu
;
Siddharth Banka
;
Yingzhi Huang
;
Jonathan Hardman-Smart
;
Derek Pye
, et al.
소스
British Journal of Dermatology, 187(6), 948-961. Wiley
Full Text (OUP)
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7 .
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
저자
by
Gill Wilson
;
Anna de Burca
;
Marta Bleda
;
Lucy R. Wedderburn
;
Matthew Welland
, et al.
소스
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
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7 .
Clinical and genetic findings in
TRPM1
‐related congenital stationary night blindness
저자
by
Christos Iosifidis
;
Jingshu Liu
;
Theodora Gale
;
Jamie M. Ellingford
;
Christopher Campbell
, et al.
소스
Acta Ophthalmologica
. 100
Full Text (Wiley)
Open Access (OpenAIRE)
Scopus
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7 .
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition
저자
by
Yanshan Liu
;
Siddharth Banka
;
Yingzhi Huang
;
Jonathan Hardman-Smart
;
Derek Pye
, et al.
소스
Open Access (OpenAIRE)
요약보기
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