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Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews Freeman, Karoline; Dinnes, Jacqueline; Shinkins, Bethany; Clark, Corinna; Kander, Ines; Scandrett, Katie; Chockalingam, Shivashri; Osman, Aziza; Dracup, Naila; Court, Rachel; Butt, Furqan; Visintin, Cristina; Bonham, James R.; Elliman, David; Shortland, Graham; Mackie, Anne; Miedzybrodzka, Zosia; Morgan, Sian M.; Boardman, Felicity; Takwoingi, Yemisi; Taylor-Phillips, Sian 分享 收藏
Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE BRCA1和BRCA2致病性变异携带者与非携带者自然绝经年龄、月经初潮年龄、月经周期长度、身高和BMI的分布：EMBRACE研究的结果 Mavaddat, Nasim; Frost, Debra; Zhao, Emily; Barnes, Daniel R.; Ahmed, Munaza; Barwell, Julian; Brady, Angela F.; Brennan, Paul; Conti, Hector; Cook, Jackie; Copeland, Harriet; Davidson, Rosemarie; Donaldson, Alan; Douglas, Emma; Gallagher, David; Hart, Rachel; Izatt, Louise; Kemp, Zoe; Lalloo, Fiona; Miedzybrodzka, Zosia; Morrison, Patrick J.; Murray, Jennie E.; Murray, Alex; Musgrave, Hannah; Searle, Claire; Side, Lucy; Snape, Katie; Tripathi, Vishakha; Walker, Lisa; Archer, Stephanie; Evans, D. Gareth; Tischkowitz, Marc; Antoniou, Antonis C.; Easton, Douglas F. 分享 收藏
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results Kerr, Shona M.; Klaric, Lucija; Muckian, Marisa D.; Johnston, Kiera; Drake, Camilla; Halachev, Mihail; Cowan, Emma; Snadden, Lesley; Dean, John; Zheng, Sean L.; Thami, Prisca K.; Ware, James S.; Tzoneva, Gannie; Shuldiner, Alan R.; Miedzybrodzka, Zosia; Wilson, James F. 分享 收藏
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Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis Abbott, Michael; Ryan, Mandy; Hernandez, Rodolfo; McKenzie, Lynda; Heidenreich, Sebastian; Hocking, Lynne; Clark, Caroline; Ansari, Morad; Moore, David; Lampe, Anne; McGowan, Ruth; Berg, Jonathan; Miedzybrodzka, Zosia 分享 收藏
Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review 用于次要研究目的的新生儿干血斑样本的方法: 范围审查 Canning, Jordan; Strawbridge, Rona J.; Miedzybrodzka, Zosia; Marioni, Riccardo E.; Melbye, Mads; Porteous, David J.; Hurles, Matthew E.; Sattar, Naveed; Sudlow, Cathie L. M.; Collins, Rory; Padmanabhan, Sandosh; Pell, Jill P. 分享 收藏
An investigation of the clinical impact and therapeutic relevance of a DNA damage immune response (DDIR) signature in patients with advanced gastroesophageal adenocarcinoma Baxter, M. A.; Spender, L. C.; Cairns, D.; Walsh, S.; Oparka, R.; Porter, R. J.; Bray, S.; Skinner, G.; King, S.; Turbitt, J.; Collinson, D.; Miedzybrodzka, Z. H.; Jellema, G.; Logan, G.; Kennedy, R. D.; Turkington, R. C.; Mclean, M. H.; Swinson, D.; Grabsch, H. I.; Lord, S.; Seymour, M. J.; Hall, P. S.; Petty, R. D. 分享 收藏
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis Qureshi, Nadeem; Woods, Bethan; Faria, Rita Neves de; Goncalves, Pedro Saramago; Cox, Edward; Bee, Jo Leonardi; Condon, Laura; Weng, Stephen; Akyea, Ralph K.; Iyen, Barbara; Roderick, Paul; Humphries, Steve E.; Rowlands, William; Watson, Melanie; Haralambos, Kate; Kenny, Ryan; Datta, Dev; Miedzybrodzka, Zosia; Byrne, Christopher; Kai, Joe 分享 收藏
Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome-Causes, Clinical Presentation, and Therapeutic Options Bashir, Bilal; Ho, Jan H.; Downie, Paul; Hamilton, Paul; Ferns, Gordon; Datta, Dev; Cegla, Jaimini; Wierzbicki, Anthony S.; Dawson, Charlotte; Jenkinson, Fiona; Delaney, Hannah; Mansfield, Michael; Teoh, Yee; Miedzybrodzka, Zosia; Haso, Haya; Durrington, Paul N.; Soran, Handrean 分享 收藏
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians Kerr, Shona M. M.; Cowan, Emma; Klaric, Lucija; Bell, Christine; O'Sullivan, Dawn; Buchanan, David; Grzymski, Joseph J. J.; van Hout, Cristopher V. V.; Tzoneva, Gannie; Shuldiner, Alan R. R.; Wilson, James F. F.; Miedzybrodzka, Zosia 分享 收藏
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing Hocking, Lynne; Andrews, Claire; Armstrong, Christine; Ansari, Morad; Baty, David; Berg, Jonathan; Bradley, Therese; Clark, Caroline; Diamond, Austin; Doherty, Jill; Lampe, Anne; McGowan, Ruth; Moore, David; O'Sullivan, Dawn; Purvis, Andrew; Santoyo-Lopez, Javier; Westwood, Paul; Abbott, Michael; Williams, Nicola J.; Scottish Genomes Partnership, Zosia; Aitman, Timothy; Miedzybrodzka, Zosia 分享 收藏
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes 对2135富集的BRCA阴性乳腺癌中罕见的破坏性种系突变的分析排除了其他高影响易感基因 Loveday, C.; Garrett, A.; Law, P.; Hanks, S.; Poyastro-Pearson, E.; Adlard, J. W.; Barwell, J.; Berg, J.; Brady, A. F.; Brewer, C.; Chapman, C.; Cook, J.; Davidson, R.; Donaldson, A.; Douglas, F.; Greenhalgh, L.; Henderson, A.; Izatt, L.; Kumar, A.; Lalloo, F.; Miedzybrodzka, Z.; Morrison, P. J.; Paterson, J.; Porteous, M.; Rogers, M. T.; Walker, L.; Eccles, D.; Evans, D. G.; Snape, K.; Hanson, H.; Houlston, R. S.; Turnbull, C. 分享 收藏
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol basal cell carcinoma susceptibility syndrome Liu, Yanshan; Banka, Siddharth; Huang, Yingzhi; Hardman-Smart, Jonathan; Pye, Derek; Torrelo, Antonio; Beaman, Glenda M.; Kazanietz, Marcelo G.; Baker, Martin J.; Ferrazzano, Carlo; Shi, Chenfu; Orozco, Gisela; Eyre, Stephen; van Geel, Michel; Bygum, Anette; Fischer, Judith; Miedzybrodzka, Zosia; Abuzahra, Faris; Rubben, Albert; Cuvertino, Sara; Ellingford, Jamie M.; Smith, Miriam J.; Evans, D. Gareth; Weppner-Parren, Lizelotte J. M. T.; van Steensel, Maurice A. M.; Chaudhary, Iskander H.; Mangham, D. Chas; Lear, John T.; Paus, Ralf; Frank, Jorge; Newman, William G.; Zhang, Xue 分享 收藏
Feasibility and ethics of using data from the Scottish newborn blood spot archive for research Cunningham-Burley, Sarah; McCartney, Daniel L.; Campbell, Archie; Flaig, Robin; Orange, Clare E. L.; Porteous, Carol; Aitken, Mhairi; Mulholland, Ciaran; Davidson, Sara; McCafferty, Selena M.; Murphy, Lee; Wrobel, Nicola; McCafferty, Sarah; Wallace, Karen; StClair, David; Kerr, Shona; Hayward, Caroline; McIntosh, Andrew M.; Sudlow, Cathie; Marioni, Riccardo E.; Pell, Jill; Miedzybrodzka, Zosia; Porteous, David J. 分享 收藏
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service Maher, Eamonn R.; Adlard, Julian; Barwell, Julian; Brady, Angela F.; Brennan, Paul; Cook, Jackie; Crawford, Gillian S.; Dabir, Tabib; Davidson, Rosemarie; Dyer, Rebecca; Harrison, Rachel; Forde, Claire; Halliday, Dorothy; Hanson, Helen; Hay, Eleanor; Higgs, Jenny; Jones, Mari; Lalloo, Fiona; Miedzybrodzka, Zosia; Ong, Kai Ren; Pelz, Frauke; Ruddy, Deborah; Snape, Katie; Whitworth, James; Sandford, Richard N. 分享 收藏
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An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort 在人群研究队列中通过序列和单倍型分析检测到的可行的KCNH2长QT综合征变体 Kerr, Shona M.; Klaric, Lucija; Halachev, Mihail; Hayward, Caroline; Boutin, Thibaud S.; Meynert, Alison M.; Semple, Colin A.; Tuiskula, Annukka M.; Swan, Heikki; Santoyo-Lopez, Javier; Vitart, Veronique; Haley, Chris; Dean, John; Miedzybrodzka, Zosia; Aitman, Timothy J.; Wilson, James F. 分享 收藏
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