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プロフィール詳細
Dr. Jane H.に依頼
United Kingdom
Molecular genetics expert and next generation sequencing specialist
プロフィール概要
専門分野
サービス
Writing
Technical Writing,
General Proofreading & Editing
Research
Fact Checking,
Scientific and Technical Research,
Systematic Literature Review
Consulting
Scientific and Technical Consulting
Product Development
Stability/Shelf Life Testing,
Product Evaluation,
Product Validation,
Concept Development,
Product Launch Support,
Packaging Design
職務経験
Field application scientist
biomodal Ltd (formerly Cambridge Epigenetix)
2月 2022 - 1月 2025
Field application scientist
Nonacus Ltd
7月 2019 - 1月 2022
Senior Bioscientist
AstraZeneca
6月 2017 - 6月 2019
Translational Scientist
Molecular Genetics Laboratory Great Ormond Street Hospital
5月 2016 - 6月 2017
PostdoctoralResearcher
University College London
9月 2014 - 4月 2016
Postdoctoral R&D Scientist
National Hospital for Neurology and Neurosurgery
9月 2013 - 9月 2014
学歴
PhD Molecular Genetics
University College London, University of London - United Kingdom
9月 2009 - 9月 2013
Molecular Pathology & Genomics
Barts Cancer Institute (Queen Mary University of London
9月 2008 - 9月 2009
Biomedical Sciences
London Metropolitan University
9月 2004 - 6月 2008
認定資格
- 認定資格の詳細は未入力です。
出版物
JOURNAL ARTICLE
Hayward, J., Chitty, L.S.(2018). Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing . Seminars in Fetal and Neonatal Medicine. 23. (2). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 94-101.
Fassad, M.R., Shoemark, A., le Borgne, P., Koll, F., Patel, M., Dixon, M., Hayward, J., Richardson, C., Frost, E., Jenkins, L., et al.(2018). C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia . American Journal of Human Genetics. 102. (5). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 956-972.
Irving, S., Dixon, M., Fassad, M.R., Frost, E., Hayward, J., Kilpin, K., Ollosson, S., Onoufriadis, A., Patel, M.P., Scully, J., et al.(2018). Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index . Lung. 196. (2). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 231-238.
et al.(2017). High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations . Thorax.
et al.(2017). X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 . Nature communications.
et al.(2015). Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer . Journal of the National Cancer Institute.
(2015). Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population . Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
Song, H., Dicks, E., Ramus, S.J., Tyrer, J.P., Intermaggio, M.P., Song, H., Dicks, E., Ramus, S.J., Tyrer, J.P., Intermaggio, M.P., et al.(2015). Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population . Journal of Clinical Oncology. 33. (26). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 2901-2907.
et al.(2013). Role of DNA methylation and epigenetic silencing of HAND2 in endometrial cancer development . PLoS medicine.
Widschwendter, M., Rosenthal, A.N., Philpott, S., Rizzuto, I., Fraser, L., Hayward, J., Intermaggio, M.P., Edlund, C.K., Ramus, S.J., Gayther, S.A., et al.(2013). The sex hormone system in carriers of BRCA1/2 mutations: A case-control study . The Lancet Oncology. 14. (12). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 1226-1232.