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

The zebrafish reference genome sequence and its relationship to the human genome

斑马鱼参考基因组序列及其与人类基因组的关系

Howe, Kerstin; Clark, Matthew D; Torroja, Carlos F; Torrance, James; Berthelot, Camille; Muffato, Matthieu; Collins, John E; Humphray, Sean; McLaren, Karen; Matthews, Lucy; McLaren, Stuart; Sealy, Ian; Caccamo, Mario; Churcher, Carol; Scott, Carol; Barrett, Jeffrey C; Koch, Romke; Rauch, Gerd-Jörg; White, Simon; Chow, William; Kilian, Britt; Quintais, Leonor T; Guerra-Assunção, José A; Zhou, Yi; Gu, Yong; Yen, Jennifer; Vogel, Jan-Hinnerk; Eyre, Tina; Redmond, Seth; Banerjee, Ruby; Chi, Jianxiang; Fu, Beiyuan; Langley, Elizabeth; Maguire, Sean F; Laird, Gavin K; Lloyd, David; Kenyon, Emma; Donaldson, Sarah; Sehra, Harminder; Almeida-King, Jeff; Loveland, Jane; Trevanion, Stephen; Jones, Matt; Quail, Mike; Willey, Dave; Hunt, Adrienne; Burton, John; Sims, Sarah; McLay, Kirsten; Plumb, Bob; Davis, Joy; Clee, Chris; Oliver, Karen; Clark, Richard; Riddle, Clare; Elliot, David; Threadgold, Glen; Harden, Glenn; Ware, Darren; Begum, Sharmin; Mortimore, Beverley; Kerry, Giselle; Heath, Paul; Phillimore, Benjamin; Tracey, Alan; Corby, Nicole; Dunn, Matthew; Johnson, Christopher; Wood, Jonathan; Clark, Susan; Pelan, Sarah; Griffiths, Guy; Smith, Michelle; Glithero, Rebecca; Howden, Philip; Barker, Nicholas; Lloyd, Christine; Stevens, Christopher; Harley, Joanna; Holt, Karen; Panagiotidis, Georgios; Lovell, Jamieson; Beasley, Helen; Henderson, Carl; Gordon, Daria; Auger, Katherine; Wright, Deborah; Collins, Joanna; Raisen, Claire; Dyer, Lauren; Leung, Kenric; Robertson, Lauren; Ambridge, Kirsty; Leongamornlert, Daniel; McGuire, Sarah; Gilderthorp, Ruth; Griffiths, Coline; Manthravadi, Deepa; Nichol, Sarah; Barker, Gary; Whitehead, Siobhan; Kay, Michael; Brown, Jacqueline; Murnane, Clare; Gray, Emma; Humphries, Matthew; Sycamore, Neil; Barker, Darren; Saunders, David; Wallis, Justene; Babbage, Anne; Hammond, Sian; Mashreghi-Mohammadi, Maryam; Barr, Lucy; Martin, Sancha; Wray, Paul; Ellington, Andrew; Matthews, Nicholas; Ellwood, Matthew; Woodmansey, Rebecca; Clark, Graham; Cooper, James D; Tromans, Anthony; Grafham, Darren; Skuce, Carl; Pandian, Richard; Andrews, Robert; Harrison, Elliot; Kimberley, Andrew; Garnett, Jane; Fosker, Nigel; Hall, Rebekah; Garner, Patrick; Kelly, Daniel; Bird, Christine; Palmer, Sophie; Gehring, Ines; Berger, Andrea; Dooley, Christopher M; Ersan-Ürün, Zübeyde; Eser, Cigdem; Geiger, Horst; Geisler, Maria; Karotki, Lena; Kirn, Anette; Konantz, Judith; Konantz, Martina; Oberländer, Martina; Rudolph-Geiger, Silke; Teucke, Mathias; Lanz, Christa; Raddatz, Günter; Osoegawa, Kazutoyo; Zhu, Baoli; Rapp, Amanda; Widaa, Sara; Langford, Cordelia; Yang, Fengtang; Schuster, Stephan C; Carter, Nigel P; Harrow, Jennifer; Ning, Zemin; Herrero, Javier; Searle, Steve M J; Enright, Anton; Geisler, Robert; Plasterk, Ronald H A; Lee, Charles; Westerfield, Monte; de Jong, Pieter J; Zon, Leonard I; Postlethwait, John H; Nüsslein-Volhard, Christiane; Hubbard, Tim J P; Roest Crollius, Hugues; Rogers, Jane; Stemple, Derek L

Genetic basis of Y-linked hearing impairment

Y染色体连锁听力障碍的遗传基础

Wang, Qiuju; Xue, Yali; Zhang, Yujun; Long, Quan; Asan; Yang, Fengtang; Turner, Daniel J; Fitzgerald, Tomas; Ng, Bee Ling; Zhao, Yali; Chen, Yuan; Liu, Qingjie; Yang, Weiyan; Han, Dongyi; Quail, Michael A; Swerdlow, Harold; Burton, John; Fahey, Ciara; Ning, Zemin; Hurles, Matthew E; Carter, Nigel P; Yang, Huanming; Tyler-Smith, Chris

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.

大规模并行测序揭示了唐氏综合征 Tc1 模型中小鼠背景下受辐射的人类染色体的复杂结构

Gribble Susan M, Wiseman Frances K, Clayton Stephen, Prigmore Elena, Langley Elizabeth, Yang Fengtang, Maguire Sean, Fu Beiyuan, Rajan Diana, Sheppard Olivia, Scott Carol, Hauser Heidi, Stephens Philip J, Stebbings Lucy A, Ng Bee Ling, Fitzgerald Tomas, Quail Michael A, Banerjee Ruby, Rothkamm Kai, Tybulewicz Victor L J, Fisher Elizabeth M C, Carter Nigel P

Diagnostic interpretation of array data using public databases and internet sources

利用公共数据库和互联网资源对阵列数据进行诊断性解读

de Leeuw, Nicole; Dijkhuizen, Trijnie; Hehir-Kwa, Jayne Y; Carter, Nigel P; Feuk, Lars; Firth, Helen V; Kuhn, Robert M; Ledbetter, David H; Martin, Christa Lese; van Ravenswaaij-Arts, Conny M A; Scherer, Steven W; Shams, Soheil; Van Vooren, Steven; Sijmons, Rolf; Swertz, Morris; Hastings, Ros

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

DECIPHER:一个基于网络的社区资源,用于对发育障碍中的罕见变异进行临床解读。

Swaminathan, Ganesh J; Bragin, Eugene; Chatzimichali, Eleni A; Corpas, Manuel; Bevan, A Paul; Wright, Caroline F; Carter, Nigel P; Hurles, Matthew E; Firth, Helen V

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

胎儿特异性DNA甲基化比率可用于对21三体综合征进行无创产前诊断

Papageorgiou, Elisavet A; Karagrigoriou, Alex; Tsaliki, Evdokia; Velissariou, Voula; Carter, Nigel P; Patsalis, Philippos C

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

对基于阵列的平台和用于检测拷贝数变异的调用算法进行全面评估

Pinto, Dalila; Darvishi, Katayoon; Shi, Xinghua; Rajan, Diana; Rigler, Diane; Fitzgerald, Tom; Lionel, Anath C; Thiruvahindrapuram, Bhooma; Macdonald, Jeffrey R; Mills, Ryan; Prasad, Aparna; Noonan, Kristin; Gribble, Susan; Prigmore, Elena; Donahoe, Patricia K; Smith, Richard S; Park, Ji Hyeon; Hurles, Matthew E; Carter, Nigel P; Lee, Charles; Scherer, Stephen W; Feuk, Lars

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

人类近端Xp区域的FoSTeS、MMBIR和NAHR以及人类Xq等臂染色体形成机制

Koumbaris, George; Hatzisevastou-Loukidou, Hariklia; Alexandrou, Angelos; Ioannides, Marios; Christodoulou, Christodoulos; Fitzgerald, Tomas; Rajan, Diana; Clayton, Stephen; Kitsiou-Tzeli, Sophia; Vermeesch, Joris R; Skordis, Nicos; Antoniou, Pavlos; Kurg, Ants; Georgiou, Ioannis; Carter, Nigel P; Patsalis, Philippos C

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

对16000例8种常见疾病患者和3000例共有对照样本进行全基因组拷贝数变异(CNV)关联分析

Craddock, Nick; Hurles, Matthew E; Cardin, Niall; Pearson, Richard D; Plagnol, Vincent; Robson, Samuel; Vukcevic, Damjan; Barnes, Chris; Conrad, Donald F; Giannoulatou, Eleni; Holmes, Chris; Marchini, Jonathan L; Stirrups, Kathy; Tobin, Martin D; Wain, Louise V; Yau, Chris; Aerts, Jan; Ahmad, Tariq; Andrews, T Daniel; Arbury, Hazel; Attwood, Anthony; Auton, Adam; Ball, Stephen G; Balmforth, Anthony J; Barrett, Jeffrey C; Barroso, Inês; Barton, Anne; Bennett, Amanda J; Bhaskar, Sanjeev; Blaszczyk, Katarzyna; Bowes, John; Brand, Oliver J; Braund, Peter S; Bredin, Francesca; Breen, Gerome; Brown, Morris J; Bruce, Ian N; Bull, Jaswinder; Burren, Oliver S; Burton, John; Byrnes, Jake; Caesar, Sian; Clee, Chris M; Coffey, Alison J; Connell, John M C; Cooper, Jason D; Dominiczak, Anna F; Downes, Kate; Drummond, Hazel E; Dudakia, Darshna; Dunham, Andrew; Ebbs, Bernadette; Eccles, Diana; Edkins, Sarah; Edwards, Cathryn; Elliot, Anna; Emery, Paul; Evans, David M; Evans, Gareth; Eyre, Steve; Farmer, Anne; Ferrier, I Nicol; Feuk, Lars; Fitzgerald, Tomas; Flynn, Edward; Forbes, Alistair; Forty, Liz; Franklyn, Jayne A; Freathy, Rachel M; Gibbs, Polly; Gilbert, Paul; Gokumen, Omer; Gordon-Smith, Katherine; Gray, Emma; Green, Elaine; Groves, Chris J; Grozeva, Detelina; Gwilliam, Rhian; Hall, Anita; Hammond, Naomi; Hardy, Matt; Harrison, Pile; Hassanali, Neelam; Hebaishi, Husam; Hines, Sarah; Hinks, Anne; Hitman, Graham A; Hocking, Lynne; Howard, Eleanor; Howard, Philip; Howson, Joanna M M; Hughes, Debbie; Hunt, Sarah; Isaacs, John D; Jain, Mahim; Jewell, Derek P; Johnson, Toby; Jolley, Jennifer D; Jones, Ian R; Jones, Lisa A; Kirov, George; Langford, Cordelia F; Lango-Allen, Hana; Lathrop, G Mark; Lee, James; Lee, Kate L; Lees, Charlie; Lewis, Kevin; Lindgren, Cecilia M; Maisuria-Armer, Meeta; Maller, Julian; Mansfield, John; Martin, Paul; Massey, Dunecan C O; McArdle, Wendy L; McGuffin, Peter; McLay, Kirsten E; Mentzer, Alex; Mimmack, Michael L; Morgan, Ann E; Morris, Andrew P; Mowat, Craig; Myers, Simon; Newman, William; Nimmo, Elaine R; O'Donovan, Michael C; Onipinla, Abiodun; Onyiah, Ifejinelo; Ovington, Nigel R; Owen, Michael J; Palin, Kimmo; Parnell, Kirstie; Pernet, David; Perry, John R B; Phillips, Anne; Pinto, Dalila; Prescott, Natalie J; Prokopenko, Inga; Quail, Michael A; Rafelt, Suzanne; Rayner, Nigel W; Redon, Richard; Reid, David M; Renwick; Ring, Susan M; Robertson, Neil; Russell, Ellie; St Clair, David; Sambrook, Jennifer G; Sanderson, Jeremy D; Schuilenburg, Helen; Scott, Carol E; Scott, Richard; Seal, Sheila; Shaw-Hawkins, Sue; Shields, Beverley M; Simmonds, Matthew J; Smyth, Debbie J; Somaskantharajah, Elilan; Spanova, Katarina; Steer, Sophia; Stephens, Jonathan; Stevens, Helen E; Stone, Millicent A; Su, Zhan; Symmons, Deborah P M; Thompson, John R; Thomson, Wendy; Travers, Mary E; Turnbull, Clare; Valsesia, Armand; Walker, Mark; Walker, Neil M; Wallace, Chris; Warren-Perry, Margaret; Watkins, Nicholas A; Webster, John; Weedon, Michael N; Wilson, Anthony G; Woodburn, Matthew; Wordsworth, B Paul; Young, Allan H; Zeggini, Eleftheria; Carter, Nigel P; Frayling, Timothy M; Lee, Charles; McVean, Gil; Munroe, Patricia B; Palotie, Aarno; Sawcer, Stephen J; Scherer, Stephen W; Strachan, David P; Tyler-Smith, Chris; Brown, Matthew A; Burton, Paul R; Caulfield, Mark J; Compston, Alastair; Farrall, Martin; Gough, Stephen C L; Hall, Alistair S; Hattersley, Andrew T; Hill, Adrian V S; Mathew, Christopher G; Pembrey, Marcus; Satsangi, Jack; Stratton, Michael R; Worthington, Jane; Deloukas, Panos; Duncanson, Audrey; Kwiatkowski, Dominic P; McCarthy, Mark I; Ouwehand, Willem; Parkes, Miles; Rahman, Nazneen; Todd, John A; Samani, Nilesh J; Donnelly, Peter

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

共识声明:染色体微阵列分析是发育障碍或先天性异常患者的一线临床诊断检测方法。

Miller, David T; Adam, Margaret P; Aradhya, Swaroop; Biesecker, Leslie G; Brothman, Arthur R; Carter, Nigel P; Church, Deanna M; Crolla, John A; Eichler, Evan E; Epstein, Charles J; Faucett, W Andrew; Feuk, Lars; Friedman, Jan M; Hamosh, Ada; Jackson, Laird; Kaminsky, Erin B; Kok, Klaas; Krantz, Ian D; Kuhn, Robert M; Lee, Charles; Ostell, James M; Rosenberg, Carla; Scherer, Stephen W; Spinner, Nancy B; Stavropoulos, Dimitri J; Tepperberg, James H; Thorland, Erik C; Vermeesch, Joris R; Waggoner, Darrel J; Watson, Michael S; Martin, Christa Lese; Ledbetter, David H