Early diagnosis of Werner’s syndrome using exome-wide sequencing in a single, atypical patient

Autor: Eleanor eRaffan, Liam A Hurst, Saeed eAl Turki, Gillian eCarpenter, Carol eScott, Allan eDaly, Alison eCoffey, Sanjeev eBhaskar, Eleanor eHoward, Naz eKhan, Helen eKingston, Aarno ePalotie, David Bousfield Savage, Mark eO'Driscoll, Claire eSmith, Stephen eO'Rahilly, Inês eBarroso, Robert Kenneth Semple

Publikováno v: Frontiers in Endocrinology, Vol 2 (2011)

Genetic diagnosis of inherited metabolic disease is conventionally achieved through syndrome recognition and targeted gene sequencing, but many patients receive no specific diagnosis. Next generation sequencing allied to capture of expressed sequence

Externí odkaz: https://doaj.org/article/061229dc1d424498986ed6fa52ec7949

Achievements, Prospects and Challenges in Precision Care for Monogenic Insulin Deficient and Insulin Resistant Diabetes

Autor: Robert Kenneth Semple, Amelie Bonnefond

Publikováno v: Bonnefond, A & Semple, R K 2022, ' Achievements, Prospects and Challenges in Precision Care for Monogenic Insulin Deficient and Insulin Resistant Diabetes ', Diabetologia . https://doi.org/10.1007/s00125-022-05720-7
Diabetologia

Integration of genomic and other data has begun to stratify type 2 diabetes in prognostically meaningful ways, but this has yet to impact on mainstream diabetes practice. The subgroup of diabetes caused by single gene defects thus provides the best e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a2c281ae665527aa3f501a1b89a4a5
https://hdl.handle.net/20.500.11820/b5bad8b4-22c2-4f69-af63-e213daaa4ed7

Luminescent peptide tagging enables efficient screening for CRISPR-mediated knock-in in human induced pluripotent stem cells

Autor: Robert Kenneth Semple, Ralitsa Radostinova Madsen

Publikováno v: Madsen, R R & Semple, R K 2019, ' Luminescent peptide tagging enables efficient screening for CRISPR-mediated knock-in in human induced pluripotent stem cells ', Wellcome Open Research, vol. 4, pp. 37 . https://doi.org/10.12688/wellcomeopenres.15119.1
Wellcome Open Research

Human pluripotent stem cells are increasingly used for CRISPR-mediated gene targeting in efforts to generate models of human diseases. This is a challenging task because of the high sensitivity of these cells to suboptimal conditions, including CRISP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e83a3f377b0684897ff87e54924190f
https://www.pure.ed.ac.uk/ws/files/80754203/Madsen_Semple_HiBiT_WOR.pdf

Estimating telomere length from whole genome sequence data

Autor: Eleftheria Zeggini, Richard Durbin, Kirsten Kelly, David Collier, Robert Kenneth Semple, Sadaf Farooqi, Louise Gallagher, Massimo Mangino, Zhihao Ding, Peter Scambler

Publikováno v: Nucleic Acids Research

Telomeres play a key role in replicative ageing and undergo age-dependent attrition in vivo. Here, we report a novel method, TelSeq, to measure average telomere length from whole genome or exome shotgun sequence data. In 260 leukocyte samples, we sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::207f01f2e1fc0f9b7ab522a644b6e623
http://europepmc.org/articles/PMC4027178