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

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

USMG5 阿什肯纳兹犹太人创始突变会损害线粒体复合物 V 二聚化和 ATP 合成。

Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth; Juanola-Falgarona, Marti; Gai, Xiaowu; Li, Dong; Jalas, Chaim; Hirsch, Yoel; Emmanuele, Valentina; Tadesse, Saba; Ziosi, Marcello; Akman, Hasan O; Chung, Wendy K; Tanji, Kurenai; McCormick, Elizabeth M; Place, Emily; Consugar, Mark; Pierce, Eric A; Hakonarson, Hakon; Wallace, Douglas C; Hirano, Michio; Falk, Marni J

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

拷贝数变异是遗传性视网膜变性病因的重要因素

Bujakowska Kinga M, Fernandez-Godino Rosario, Place Emily, Consugar Mark, Navarro-Gomez Daniel, White Joseph, Bedoukian Emma C, Zhu Xiaosong, Xie Hongbo M, Gai Xiaowu, Leroy Bart P, Pierce Eric A

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy

全外显子组测序鉴定增殖性糖尿病视网膜病变患者的新候选基因

Ung, Cindy; Sanchez, Angie V; Shen, Lishuang; Davoudi, Samaneh; Ahmadi, Tina; Navarro-Gomez, Daniel; Chen, Ching J; Hancock, Heather; Penman, Alan; Hoadley, Suzanne; Consugar, Mark; Restrepo, Carlos; Shah, Vinay A; Arboleda-Velasquez, Joseph F; Sobrin, Lucia; Gai, Xiaowu; Kim, Leo A

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

基于基因组测序的遗传性眼病基因诊断检测具有更高的准确性和可重复性,并且对变异检测更为敏感,优于外显子组测序。

Consugar, Mark B; Navarro-Gomez, Daniel; Place, Emily M; Bujakowska, Kinga M; Sousa, Maria E; Fonseca-Kelly, Zoë D; Taub, Daniel G; Janessian, Maria; Wang, Dan Yi; Au, Elizabeth D; Sims, Katherine B; Sweetser, David A; Fulton, Anne B; Liu, Qin; Wiggs, Janey L; Gai, Xiaowu; Pierce, Eric A

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

IFT172 基因突变导致孤立性视网膜变性和 Bardet-Biedl 综合征

Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Marni J Falk, Mark Consugar, Marie-Elise Lancelot, Aline Antonio, Christine Lonjou, Wassila Carpentier, Saddek Mohand-Saïd, Anneke I den Hollander, Frans P M Cremers, Bart P Leroy, Xiaowu Gai, José-Alain Sahel, L Ingeborgh van

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

利用计算机模拟高效鉴定MAK基因中导致视网膜色素变性的常见插入突变

Bujakowska, Kinga M; White, Joseph; Place, Emily; Consugar, Mark; Comander, Jason

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families

对已确定的PKD3家族的重新分析并不支持存在第三个ADPKD基因位点的证据。

Paul, Binu M; Consugar, Mark B; Ryan Lee, Moonnoh; Sundsbak, Jamie L; Heyer, Christina M; Rossetti, Sandro; Kubly, Vickie J; Hopp, Katharina; Torres, Vicente E; Coto, Eliecer; Clementi, Maurizio; Bogdanova, Nadja; de Almeida, Edgar; Bichet, Daniel G; Harris, Peter C

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

编码线粒体蛋白的FBXL4基因突变会导致早发性线粒体脑肌病。

Gai, Xiaowu; Ghezzi, Daniele; Johnson, Mark A; Biagosch, Caroline A; Shamseldin, Hanan E; Haack, Tobias B; Reyes, Aurelio; Tsukikawa, Mai; Sheldon, Claire A; Srinivasan, Satish; Gorza, Matteo; Kremer, Laura S; Wieland, Thomas; Strom, Tim M; Polyak, Erzsebet; Place, Emily; Consugar, Mark; Ostrovsky, Julian; Vidoni, Sara; Robinson, Alan J; Wong, Lee-Jun; Sondheimer, Neal; Salih, Mustafa A; Al-Jishi, Emtethal; Raab, Christopher P; Bean, Charles; Furlan, Francesca; Parini, Rossella; Lamperti, Costanza; Mayr, Johannes A; Konstantopoulou, Vassiliki; Huemer, Martina; Pierce, Eric A; Meitinger, Thomas; Freisinger, Peter; Sperl, Wolfgang; Prokisch, Holger; Alkuraya, Fowzan S; Falk, Marni J; Zeviani, Massimo

NMNAT1 mutations cause Leber congenital amaurosis.

NMNAT1基因突变会导致莱伯氏先天性黑蒙症

Falk Marni J, Zhang Qi, Nakamaru-Ogiso Eiko, Kannabiran Chitra, Fonseca-Kelly Zoe, Chakarova Christina, Audo Isabelle, Mackay Donna S, Zeitz Christina, Borman Arundhati Dev, Staniszewska Magdalena, Shukla Rachna, Palavalli Lakshmi, Mohand-Said Saddek, Waseem Naushin H, Jalali Subhadra, Perin Juan C, Place Emily, Ostrovsky Julian, Xiao Rui, Bhattacharya Shomi S, Consugar Mark, Webster Andrew R, Sahel José-Alain, Moore Anthony T, Berson Eliot L, Liu Qin, Gai Xiaowu, Pierce Eric A

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

通过靶向外显子富集的下一代测序和缺失分析发现 B9D1 是一种新的梅克尔综合征 (MKS) 基因

Katharina Hopp, Christina M Heyer, Cynthia J Hommerding, Susan A Henke, Jamie L Sundsbak, Shail Patel, Priyanka Patel, Mark B Consugar, Peter G Czarnecki, Troy J Gliem, Vicente E Torres, Sandro Rossetti, Peter C Harris