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

Image-guided targeting of mitochondrial metabolism sensitizes pediatric malignant rhabdoid tumors to low-dose radiotherapy

影像引导靶向线粒体代谢可增强儿童恶性横纹肌样瘤对低剂量放射治疗的敏感性

Wenxi Xia ,Esther Need ,Carmine Schiavone ,Neetu Singh ,Jiemin Huang ,Matthew Goff ,Joseph Cave ,David L Gillespie ,Randy L Jensen ,Mark D Pagel ,Prashant Dogra ,Sixiang Shi ,Shreya Goel

A Genomics England haplotype reference panel and imputation of UK Biobank

英国基因组学单倍型参考面板和英国生物银行的插补

Shi, Sinan; Rubinacci, Simone; Hu, Sile; Moutsianas, Loukas; Stuckey, Alex; Need, Anna C; Palamara, Pier Francesco; Caulfield, Mark; Marchini, Jonathan; Myers, Simon

Reduction-Induced Magnetic Behavior in LaFeO(3-δ) Thin Films

LaFeO(3-δ)薄膜的还原诱导磁性行为

Arndt, Nathan D; Hershkovitz, Eitan; Shah, Labdhi; Kjærnes, Kristoffer; Yang, Chao-Yao; Balakrishnan, Purnima P; Shariff, Mohammed S; Tauro, Shaun; Gopman, Daniel B; Kirby, Brian J; Grutter, Alexander J; Tybell, Thomas; Kim, Honggyu; Need, Ryan F

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

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

VWA1 基因中 10 bp 的祖先重复序列扩增导致隐性遗传性运动神经病

Pagnamenta Alistair T, Kaiyrzhanov Rauan, Zou Yaqun, Da'as Sahar I, Maroofian Reza, Donkervoort Sandra, Dominik Natalia, Lauffer Marlen, Ferla Matteo P, Orioli Andrea, Giess Adam, Tucci Arianna, Beetz Christian, Sedghi Maryam, Ansari Behnaz, Barresi Rita, Basiri Keivan, Cortese Andrea, Elgar Greg, Fernandez-Garcia Miguel A, Yip Janice, Foley A Reghan, Gutowski Nicholas, Jungbluth Heinz, Lassche Saskia, Lavin Tim, Marcelis Carlo, Marks Peter, Marini-Bettolo Chiara, Medne Livija, Moslemi Ali-Reza, Sarkozy Anna, Reilly Mary M, Muntoni Francesco, Millan Francisca, Muraresku Colleen C, Need Anna C, Nemeth Andrea H, Neuhaus Sarah B, Norwood Fiona, O'Donnell Marie, O'Driscoll Mary, Rankin Julia, Yum Sabrina W, Zolkipli-Cunningham Zarazuela, Brusius Isabell, Wunderlich Gilbert, Karakaya Mert, Wirth Brunhilde, Fakhro Khalid A, Tajsharghi Homa, Bönnemann Carsten G, Taylor Jenny C, Houlden Henry

Kondo physics in antiferromagnetic Weyl semimetal Mn(3+x) Sn(1-x) films

反铁磁性Weyl半金属Mn(3+x)Sn(1-x)薄膜中的近藤物理学

Khadka, Durga; Thapaliya, T R; Hurtado Parra, Sebastian; Han, Xingyue; Wen, Jiajia; Need, Ryan F; Khanal, Pravin; Wang, Weigang; Zang, Jiadong; Kikkawa, James M; Wu, Liang; Huang, S X

Through the professional's eyes: transfers of care during pregnancy, childbirth and the postpartum period

从专业人士的视角看:孕期、分娩期和产后期的护理交接

van Stenus, Cherelle M V; Poorthuis, Max B; Boere-Boonekamp, Magda M; Need, Ariana

Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

作者更正:一项对 300,486 名个体进行的研究发现了 148 个影响一般认知功能的独立基因位点

Davies, Gail; Lam, Max; Harris, Sarah E; Trampush, Joey W; Luciano, Michelle; Hill, W David; Hagenaars, Saskia P; Ritchie, Stuart J; Marioni, Riccardo E; Fawns-Ritchie, Chloe; Liewald, David C M; Okely, Judith A; Ahola-Olli, Ari V; Barnes, Catriona L K; Bertram, Lars; Bis, Joshua C; Burdick, Katherine E; Christoforou, Andrea; DeRosse, Pamela; Djurovic, Srdjan; Espeseth, Thomas; Giakoumaki, Stella; Giddaluru, Sudheer; Gustavson, Daniel E; Hayward, Caroline; Hofer, Edith; Ikram, M Arfan; Karlsson, Robert; Knowles, Emma; Lahti, Jari; Leber, Markus; Li, Shuo; Mather, Karen A; Melle, Ingrid; Morris, Derek; Oldmeadow, Christopher; Palviainen, Teemu; Payton, Antony; Pazoki, Raha; Petrovic, Katja; Reynolds, Chandra A; Sargurupremraj, Muralidharan; Scholz, Markus; Smith, Jennifer A; Smith, Albert V; Terzikhan, Natalie; Thalamuthu, Anbupalam; Trompet, Stella; van der Lee, Sven J; Ware, Erin B; Windham, B Gwen; Wright, Margaret J; Yang, Jingyun; Yu, Jin; Ames, David; Amin, Najaf; Amouyel, Philippe; Andreassen, Ole A; Armstrong, Nicola J; Assareh, Amelia A; Attia, John R; Attix, Deborah; Avramopoulos, Dimitrios; Bennett, David A; Böhmer, Anne C; Boyle, Patricia A; Brodaty, Henry; Campbell, Harry; Cannon, Tyrone D; Cirulli, Elizabeth T; Congdon, Eliza; Conley, Emily Drabant; Corley, Janie; Cox, Simon R; Dale, Anders M; Dehghan, Abbas; Dick, Danielle; Dickinson, Dwight; Eriksson, Johan G; Evangelou, Evangelos; Faul, Jessica D; Ford, Ian; Freimer, Nelson A; Gao, He; Giegling, Ina; Gillespie, Nathan A; Gordon, Scott D; Gottesman, Rebecca F; Griswold, Michael E; Gudnason, Vilmundur; Harris, Tamara B; Hartmann, Annette M; Hatzimanolis, Alex; Heiss, Gerardo; Holliday, Elizabeth G; Joshi, Peter K; Kähönen, Mika; Kardia, Sharon L R; Karlsson, Ida; Kleineidam, Luca; Knopman, David S; Kochan, Nicole A; Konte, Bettina; Kwok, John B; Le Hellard, Stephanie; Lee, Teresa; Lehtimäki, Terho; Li, Shu-Chen; Lill, Christina M; Liu, Tian; Koini, Marisa; London, Edythe; Longstreth, Will T Jr; Lopez, Oscar L; Loukola, Anu; Luck, Tobias; Lundervold, Astri J; Lundquist, Anders; Lyytikäinen, Leo-Pekka; Martin, Nicholas G; Montgomery, Grant W; Murray, Alison D; Need, Anna C; Noordam, Raymond; Nyberg, Lars; Ollier, William; Papenberg, Goran; Pattie, Alison; Polasek, Ozren; Poldrack, Russell A; Psaty, Bruce M; Reppermund, Simone; Riedel-Heller, Steffi G; Rose, Richard J; Rotter, Jerome I; Roussos, Panos; Rovio, Suvi P; Saba, Yasaman; Sabb, Fred W; Sachdev, Perminder S; Satizabal, Claudia L; Schmid, Matthias; Scott, Rodney J; Scult, Matthew A; Simino, Jeannette; Slagboom, P Eline; Smyrnis, Nikolaos; Soumaré, Aïcha; Stefanis, Nikos C; Stott, David J; Straub, Richard E; Sundet, Kjetil; Taylor, Adele M; Taylor, Kent D; Tzoulaki, Ioanna; Tzourio, Christophe; Uitterlinden, André; Vitart, Veronique; Voineskos, Aristotle N; Kaprio, Jaakko; Wagner, Michael; Wagner, Holger; Weinhold, Leonie; Wen, K Hoyan; Widen, Elisabeth; Yang, Qiong; Zhao, Wei; Adams, Hieab H H; Arking, Dan E; Bilder, Robert M; Bitsios, Panos; Boerwinkle, Eric; Chiba-Falek, Ornit; Corvin, Aiden; De Jager, Philip L; Debette, Stéphanie; Donohoe, Gary; Elliott, Paul; Fitzpatrick, Annette L; Gill, Michael; Glahn, David C; Hägg, Sara; Hansell, Narelle K; Hariri, Ahmad R; Ikram, M Kamran; Jukema, J Wouter; Vuoksimaa, Eero; Keller, Matthew C; Kremen, William S; Launer, Lenore; Lindenberger, Ulman; Palotie, Aarno; Pedersen, Nancy L; Pendleton, Neil; Porteous, David J; Räikkönen, Katri; Raitakari, Olli T; Ramirez, Alfredo; Reinvang, Ivar; Rudan, Igor; Dan Rujescu; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter W; Schofield, Peter R; Starr, John M; Steen, Vidar M; Trollor, Julian N; Turner, Steven T; Van Duijn, Cornelia M; Villringer, Arno; Weinberger, Daniel R; Weir, David R; Wilson, James F; Malhotra, Anil; McIntosh, Andrew M; Gale, Catharine R; Seshadri, Sudha; Mosley, Thomas H Jr; Bressler, Jan; Lencz, Todd; Deary, Ian J

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways

认知、教育和精神分裂症的多效性荟萃分析区分了早期神经发育和成人突触通路的作用

Lam, Max; Hill, W David; Trampush, Joey W; Yu, Jin; Knowles, Emma; Davies, Gail; Stahl, Eli; Huckins, Laura; Liewald, David C; Djurovic, Srdjan; Melle, Ingrid; Sundet, Kjetil; Christoforou, Andrea; Reinvang, Ivar; DeRosse, Pamela; Lundervold, Astri J; Steen, Vidar M; Espeseth, Thomas; Räikkönen, Katri; Widen, Elisabeth; Palotie, Aarno; Eriksson, Johan G; Giegling, Ina; Konte, Bettina; Hartmann, Annette M; Roussos, Panos; Giakoumaki, Stella; Burdick, Katherine E; Payton, Antony; Ollier, William; Chiba-Falek, Ornit; Attix, Deborah K; Need, Anna C; Cirulli, Elizabeth T; Voineskos, Aristotle N; Stefanis, Nikos C; Avramopoulos, Dimitrios; Hatzimanolis, Alex; Arking, Dan E; Smyrnis, Nikolaos; Bilder, Robert M; Freimer, Nelson A; Cannon, Tyrone D; London, Edythe; Poldrack, Russell A; Sabb, Fred W; Congdon, Eliza; Conley, Emily Drabant; Scult, Matthew A; Dickinson, Dwight; Straub, Richard E; Donohoe, Gary; Morris, Derek; Corvin, Aiden; Gill, Michael; Hariri, Ahmad R; Weinberger, Daniel R; Pendleton, Neil; Bitsios, Panos; Rujescu, Dan; Lahti, Jari; Le Hellard, Stephanie; Keller, Matthew C; Andreassen, Ole A; Deary, Ian J; Glahn, David C; Malhotra, Anil K; Lencz, Todd

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

对于外显子组阴性个体,采用综合迭代方法进行诊断非常有效。

Shashi, Vandana; Schoch, Kelly; Spillmann, Rebecca; Cope, Heidi; Tan, Queenie K-G; Walley, Nicole; Pena, Loren; McConkie-Rosell, Allyn; Jiang, Yong-Hui; Stong, Nicholas; Need, Anna C; Goldstein, David B