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

The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes

血液基因表达和剪接的遗传决定因素对分子表型和健康结果的影响

Tokolyi, Alex; Persyn, Elodie; Nath, Artika P; Burnham, Katie L; Marten, Jonathan; Vanderstichele, Thomas; Tardaguila, Manuel; Stacey, David; Farr, Ben; Iyer, Vivek; Jiang, Xilin; Lambert, Samuel A; Noell, Guillaume; Quail, Michael A; Rajan, Diana; Ritchie, Scott C; Sun, Benjamin B; Thurston, Scott A J; Xu, Yu; Whelan, Christopher D; Runz, Heiko; Petrovski, Slavé; Gaffney, Daniel J; Roberts, David J; Di Angelantonio, Emanuele; Peters, James E; Soranzo, Nicole; Danesh, John; Butterworth, Adam S; Inouye, Michael; Davenport, Emma E; Paul, Dirk S

Optimization of high-throughput 16S rRNA gene amplicon sequencing: an assessment of PCR pooling, mastermix use and contamination

高通量16S rRNA基因扩增子测序的优化:PCR混合、预混液使用和污染的评估

Aggarwal, Dinesh; Rajan, Diana; Bellis, Katherine L; Betteridge, Emma; Brennan, Joe; de Sousa, Catarina; Carriage Study Team; Parkhill, Julian; Peacock, Sharon J; de Goffau, Marcus C; Wagner, Josef; Harrison, Ewan M

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

在外显子组测序数据中检测出隐匿的、具有临床意义的结构变异,可以提高发育障碍的诊断率。

Gardner, Eugene J; Sifrim, Alejandro; Lindsay, Sarah J; Prigmore, Elena; Rajan, Diana; Danecek, Petr; Gallone, Giuseppe; Eberhardt, Ruth Y; Martin, Hilary C; Wright, Caroline F; FitzPatrick, David R; Firth, Helen V; Hurles, Matthew E

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

利用旧数据进行新的基因诊断:对1133个发育障碍家庭的全基因组数据进行迭代式重新分析和报告

Wright, Caroline F; McRae, Jeremy F; Clayton, Stephen; Gallone, Giuseppe; Aitken, Stuart; FitzGerald, Tomas W; Jones, Philip; Prigmore, Elena; Rajan, Diana; Lord, Jenny; Sifrim, Alejandro; Kelsell, Rosemary; Parker, Michael J; Barrett, Jeffrey C; Hurles, Matthew E; FitzPatrick, David R; Firth, Helen V

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

通过外显子组测序鉴定出综合征型和非综合征型先天性心脏缺陷的不同遗传结构

Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Turki, Saeed H Al; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M M; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H; Park, Soo-Mi; Parker, Michael J; Pickardt, Thomas; Pollard, Martin O; Robert, Leema; Roberts, David J; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E F; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mahdi; Klaassen, Sabine; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Devriendt, Koenraad; FitzPatrick, David R; Brook, J David; Hurles, Matthew E

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

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

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

等位基因NFIX突变对无义介导的mRNA衰变的不同影响会导致类似Sotos综合征或Marshall-Smith综合征的疾病。

Malan, Valérie; Rajan, Diana; Thomas, Sophie; Shaw, Adam C; Louis Dit Picard, Hélène; Layet, Valérie; Till, Marianne; van Haeringen, Arie; Mortier, Geert; Nampoothiri, Sheela; Puseljić, Silvija; Legeai-Mallet, Laurence; Carter, Nigel P; Vekemans, Michel; Munnich, Arnold; Hennekam, Raoul C; Colleaux, Laurence; Cormier-Daire, Valérie

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

16q24.1上FOX基因簇的基因组和基因缺失以及FOXF1的失活突变会导致肺泡毛细血管发育不良和其他畸形。

Stankiewicz, Paweł; Sen, Partha; Bhatt, Samarth S; Storer, Mekayla; Xia, Zhilian; Bejjani, Bassem A; Ou, Zhishuo; Wiszniewska, Joanna; Driscoll, Daniel J; Maisenbacher, Melissa K; Bolivar, Juan; Bauer, Mislen; Zackai, Elaine H; McDonald-McGinn, Donna; Nowaczyk, Małgorzata M J; Murray, Mitzi; Hustead, Virginia; Mascotti, Kristin; Schultz, Regina; Hallam, Lavinia; McRae, Duncan; Nicholson, Andrew G; Newbury, Robert; Durham-O'Donnell, Jane; Knight, Gail; Kini, Usha; Shaikh, Tamim H; Martin, Vicki; Tyreman, Matthew; Simonic, Ingrid; Willatt, Lionel; Paterson, Joan; Mehta, Sarju; Rajan, Diana; Fitzgerald, Tomas; Gribble, Susan; Prigmore, Elena; Patel, Ankita; Shaffer, Lisa G; Carter, Nigel P; Cheung, Sau Wai; Langston, Claire; Shaw-Smith, Charles