日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Electrospun Polyphosphate Coacervate Glass Fibers in the System P(2)O(5)-CaO-MgO-Na(2)O-Fe(2)O(3) for Wound Healing

用于伤口愈合的P(2)O(5)-CaO-MgO-Na(2)O-Fe(2)O(3)体系静电纺丝聚磷酸盐凝聚层玻璃纤维

Humphray, Jack; Hoxha, Agron; Tomás Nery, Eveliny; Berry, Charlotte; Felipe-Sotelo, Mónica; Wilkinson, Holly; Hardman, Matthew; Gutiérrez-Merino, Jorge; Carta, Daniela

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

10万基因组计划在医疗保健领域罕见病诊断方面的试点项目——初步报告

Smedley, Damian; Smith, Katherine R; Martin, Antonio; Thomas, Ellen A; McDonagh, Ellen M; Cipriani, Valentina; Ellingford, Jamie M; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmström, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Gräf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L T; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E; Daugherty, Louise C; Niblock, Olivia; Leong, Ivone U S; Wright, Caroline F; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J; Humphray, Sean J; Robinson, Peter N; Haendel, Melissa; Simpson, Michael A; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B; O'Keefe, Raymond T; Michaelides, Michel; Moore, Anthony T; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C; Straub, Volker; Gorman, Gráinne S; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M; Yu-Wai-Man, Patrick; Turnbull, Doug M; McFarland, Robert; Taylor, Robert W; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R; Polke, James; Wood, Nicholas W; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Németh, Andrea H; Palles, Claire; Patel, Smita; Roy, Noemi B A; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O; Seaby, Eleanor G; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I Karen; Mumford, Andrew D; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R; Brennan, Paul; Burn, John; Chinnery, Patrick F; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A; Taylor, Jenny C; Webster, Andrew R; Wilkie, Andrew O M; Ouwehand, Willem H; Raymond, F Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H; Fowler, Tom; Rendon, Augusto; Caulfield, Mark

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

一个包含540万个已定相人类变异的参考数据集,这些变异通过对一个三代17人家系进行测序,并经遗传遗传学验证。

Eberle, Michael A; Fritzilas, Epameinondas; Krusche, Peter; Källberg, Morten; Moore, Benjamin L; Bekritsky, Mitchell A; Iqbal, Zamin; Chuang, Han-Yu; Humphray, Sean J; Halpern, Aaron L; Kruglyak, Semyon; Margulies, Elliott H; McVean, Gil; Bentley, David R

Detection of long repeat expansions from PCR-free whole-genome sequence data

利用无PCR全基因组测序数据检测长重复序列扩增

Dolzhenko, Egor; van Vugt, Joke J F A; Shaw, Richard J; Bekritsky, Mitchell A; van Blitterswijk, Marka; Narzisi, Giuseppe; Ajay, Subramanian S; Rajan, Vani; Lajoie, Bryan R; Johnson, Nathan H; Kingsbury, Zoya; Humphray, Sean J; Schellevis, Raymond D; Brands, William J; Baker, Matt; Rademakers, Rosa; Kooyman, Maarten; Tazelaar, Gijs H P; van Es, Michael A; McLaughlin, Russell; Sproviero, William; Shatunov, Aleksey; Jones, Ashley; Al Khleifat, Ahmad; Pittman, Alan; Morgan, Sarah; Hardiman, Orla; Al-Chalabi, Ammar; Shaw, Chris; Smith, Bradley; Neo, Edmund J; Morrison, Karen; Shaw, Pamela J; Reeves, Catherine; Winterkorn, Lara; Wexler, Nancy S; Housman, David E; Ng, Christopher W; Li, Alina L; Taft, Ryan J; van den Berg, Leonard H; Bentley, David R; Veldink, Jan H; Eberle, Michael A

Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma

基础分辨率图揭示了5-羟甲基胞嘧啶在人类胶质母细胞瘤中的重要性

Raiber, Eun-Ang; Beraldi, Dario; Martínez Cuesta, Sergio; McInroy, Gordon R; Kingsbury, Zoya; Becq, Jennifer; James, Terena; Lopes, Margarida; Allinson, Kieren; Field, Sarah; Humphray, Sean; Santarius, Thomas; Watts, Colin; Bentley, David; Balasubramanian, Shankar

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

与 AIFM1 突变相关的 X 连锁髓鞘形成低下伴脊椎干骺端发育不良 (H-SMD)

Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stol

Glioblastoma adaptation traced through decline of an IDH1 clonal driver and macro-evolution of a double-minute chromosome

胶质母细胞瘤的适应性变化可追溯至IDH1克隆驱动基因的衰退和双微染色体的宏观进化

Favero, F; McGranahan, N; Salm, M; Birkbak, N J; Sanborn, J Z; Benz, S C; Becq, J; Peden, J F; Kingsbury, Z; Grocok, R J; Humphray, S; Bentley, D; Spencer-Dene, B; Gutteridge, A; Brada, M; Roger, S; Dietrich, P-Y; Forshew, T; Gerlinger, M; Rowan, A; Stamp, G; Eklund, A C; Szallasi, Z; Swanton, C

Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma

全基因组测序为巴雷特食管和食管腺癌的克隆结构提供了新的见解

Ross-Innes, Caryn S; Becq, Jennifer; Warren, Andrew; Cheetham, R Keira; Northen, Helen; O'Donovan, Maria; Malhotra, Shalini; di Pietro, Massimiliano; Ivakhno, Sergii; He, Miao; Weaver, Jamie M J; Lynch, Andy G; Kingsbury, Zoya; Ross, Mark; Humphray, Sean; Bentley, David; Fitzgerald, Rebecca C

Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer

利用转移性乳腺癌病例中的循环肿瘤 DNA 表征多灶性克隆进化

Muhammed Murtaza, Sarah-Jane Dawson, Katherine Pogrebniak, Oscar M Rueda, Elena Provenzano, John Grant, Suet-Feung Chin, Dana W Y Tsui, Francesco Marass, Davina Gale, H Raza Ali, Pankti Shah, Tania Contente-Cuomo, Hossein Farahani, Karey Shumansky, Zoya Kingsbury, Sean Humphray, David Bentley, Sohra

TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer

早期高级别浆液性卵巢癌中的TP53突变、四倍体和同源重组修复缺陷

Chien, Jeremy; Sicotte, Hugues; Fan, Jian-Bing; Humphray, Sean; Cunningham, Julie M; Kalli, Kimberly R; Oberg, Ann L; Hart, Steven N; Li, Ying; Davila, Jaime I; Baheti, Saurabh; Wang, Chen; Dietmann, Sabine; Atkinson, Elizabeth J; Asmann, Yan W; Bell, Debra A; Ota, Takayo; Tarabishy, Yaman; Kuang, Rui; Bibikova, Marina; Cheetham, R Keira; Grocock, Russell J; Swisher, Elizabeth M; Peden, John; Bentley, David; Kocher, Jean-Pierre A; Kaufmann, Scott H; Hartmann, Lynn C; Shridhar, Viji; Goode, Ellen L