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

Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia

LDLR 5'UTR 中与家族性高胆固醇血症相关的新型起始密码子变异

Bird, Martin; Tung, Chris Jyun-Peng; Pittman, Alan M; Behr, Elijah R; Nohturfft, Axel; Futema, Marta

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Ex Vivo Host Transcriptomics During Cryptococcus neoformans, Cryptococcus gattii, and Candida albicans Infection of Peripheral Blood Mononuclear Cells From South African Volunteers.

南非志愿者外周血单核细胞感染新型隐球菌、格特隐球菌和白色念珠菌期间的体外宿主转录组学研究

Doyle Ronan M, Kannambath Shichina, Pittman Alan, Goliath Rene, Kumar Vinod, Meintjes Graeme, Milburn James, Netea Mihai G, Harrison Thomas S, Jarvis Joseph N, Bicanic Tihana

Further characterisation of immortalised human lymphatic endothelial cells to explore their transcriptomic profile and VEGFC response

进一步表征永生化人淋巴内皮细胞,以探索其转录组特征和VEGFC反应

Ogmen, Kazim; Moy, Ruby; Dobbins, Sara E; van den Bent, Lotte; Kranenburg, Onno; Hagendoorn, Jeroen; Pittman, Alan; Ostergaard, Pia; Martin-Almedina, Silvia

Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors

英国生物银行中一项针对女性脂肪水肿表型的全基因组关联研究发现了多种遗传风险因素

Klimentidis, Yann C; Chen, Zhao; Gonzalez-Garay, Manuel L; Grigoriadis, Dionysios; Sackey, Ege; Pittman, Alan; Ostergaard, Pia; Herbst, Karen L

Genetic Insights from Consanguineous Cardiomyopathy Families

近亲结婚心肌病家族的遗传学启示

Maurer, Constance; Boleti, Olga; Najarzadeh Torbati, Paria; Norouzi, Farzaneh; Fowler, Anna Nicole Rebekah; Minaee, Shima; Salih, Khalid Hama; Taherpour, Mehdi; Birjandi, Hassan; Alizadeh, Behzad; Salih, Aso Faeq; Bijari, Moniba; Houlden, Henry; Pittman, Alan Michael; Maroofian, Reza; Almashham, Yahya H; Karimiani, Ehsan Ghayoor; Kaski, Juan Pablo; Faqeih, Eissa Ali; Vakilian, Farveh; Jamshidi, Yalda

Presacral malakoplakia presenting as foot drop: a case report

骶前软斑病表现为足下垂:病例报告

Yates, Tom A; Devlin, Katie; Arnaout, Abed; Hurt, William; Stone, Neil; Everett, Kate V; Pittman, Alan; Patel, Hardik; Heenan, Susan; Hart, Paul; Harrison, Thomas S

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

对心电图QT间期及其组成部分的遗传分析,可以发现其他基因位点和通路。

Young, William J; Lahrouchi, Najim; Isaacs, Aaron; Duong, ThuyVy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A; Salman, Reem; Noordam, Raymond; Benjamins, Jan-Walter; Haessler, Jeffrey; Lyytikäinen, Leo-Pekka; Repetto, Linda; Concas, Maria Pina; van den Berg, Marten E; Weiss, Stefan; Baldassari, Antoine R; Bartz, Traci M; Cook, James P; Evans, Daniel S; Freudling, Rebecca; Hines, Oliver; Isaksen, Jonas L; Lin, Honghuang; Mei, Hao; Moscati, Arden; Müller-Nurasyid, Martina; Nursyifa, Casia; Qian, Yong; Richmond, Anne; Roselli, Carolina; Ryan, Kathleen A; Tarazona-Santos, Eduardo; Thériault, Sébastien; van Duijvenboden, Stefan; Warren, Helen R; Yao, Jie; Raza, Dania; Aeschbacher, Stefanie; Ahlberg, Gustav; Alonso, Alvaro; Andreasen, Laura; Bis, Joshua C; Boerwinkle, Eric; Campbell, Archie; Catamo, Eulalia; Cocca, Massimiliano; Cutler, Michael J; Darbar, Dawood; De Grandi, Alessandro; De Luca, Antonio; Ding, Jun; Ellervik, Christina; Ellinor, Patrick T; Felix, Stephan B; Froguel, Philippe; Fuchsberger, Christian; Gögele, Martin; Graff, Claus; Graff, Mariaelisa; Guo, Xiuqing; Hansen, Torben; Heckbert, Susan R; Huang, Paul L; Huikuri, Heikki V; Hutri-Kähönen, Nina; Ikram, M Arfan; Jackson, Rebecca D; Junttila, Juhani; Kavousi, Maryam; Kors, Jan A; Leal, Thiago P; Lemaitre, Rozenn N; Lin, Henry J; Lind, Lars; Linneberg, Allan; Liu, Simin; MacFarlane, Peter W; Mangino, Massimo; Meitinger, Thomas; Mezzavilla, Massimo; Mishra, Pashupati P; Mitchell, Rebecca N; Mononen, Nina; Montasser, May E; Morrison, Alanna C; Nauck, Matthias; Nauffal, Victor; Navarro, Pau; Nikus, Kjell; Pare, Guillaume; Patton, Kristen K; Pelliccione, Giulia; Pittman, Alan; Porteous, David J; Pramstaller, Peter P; Preuss, Michael H; Raitakari, Olli T; Reiner, Alexander P; Ribeiro, Antonio Luiz P; Rice, Kenneth M; Risch, Lorenz; Schlessinger, David; Schotten, Ulrich; Schurmann, Claudia; Shen, Xia; Shoemaker, M Benjamin; Sinagra, Gianfranco; Sinner, Moritz F; Soliman, Elsayed Z; Stoll, Monika; Strauch, Konstantin; Tarasov, Kirill; Taylor, Kent D; Tinker, Andrew; Trompet, Stella; Uitterlinden, André; Völker, Uwe; Völzke, Henry; Waldenberger, Melanie; Weng, Lu-Chen; Whitsel, Eric A; Wilson, James G; Avery, Christy L; Conen, David; Correa, Adolfo; Cucca, Francesco; Dörr, Marcus; Gharib, Sina A; Girotto, Giorgia; Grarup, Niels; Hayward, Caroline; Jamshidi, Yalda; Järvelin, Marjo-Riitta; Jukema, J Wouter; Kääb, Stefan; Kähönen, Mika; Kanters, Jørgen K; Kooperberg, Charles; Lehtimäki, Terho; Lima-Costa, Maria Fernanda; Liu, Yongmei; Loos, Ruth J F; Lubitz, Steven A; Mook-Kanamori, Dennis O; Morris, Andrew P; O'Connell, Jeffrey R; Olesen, Morten Salling; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Psaty, Bruce M; Rotter, Jerome I; Stricker, Bruno; van der Harst, Pim; van Duijn, Cornelia M; Verweij, Niek; Wilson, James F; Arking, Dan E; Ramirez, Julia; Lambiase, Pier D; Sotoodehnia, Nona; Mifsud, Borbala; Newton-Cheh, Christopher; Munroe, Patricia B

Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort

对“英国脂肪水肿”队列的临床特征和基因组关联进行研究

Grigoriadis, Dionysios; Sackey, Ege; Riches, Katie; van Zanten, Malou; Brice, Glen; England, Ruth; Mills, Mike; Dobbins, Sara E; Lee, Li Ling; Jeffery, Steve; Dong, Liang; Savage, David B; Mortimer, Peter S; Keeley, Vaughan; Pittman, Alan; Gordon, Kristiana; Ostergaard, Pia

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

利用外显子组测序数据进行线粒体DNA分析可提高神经系统疾病的诊断率

Poole, Olivia V; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L; Bugiardini, Enrico; Woodward, Cathy E; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A; Gregory, Allison; Hayflick, Susan J; Jonvik, Hallgeir; Wood, Nicholas; Houlden, Henry; Vandrovcova, Jana; Hanna, Michael G; Pittman, Alan; Pitceathly, Robert D S