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

MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred

MT-ATP6 9035T>C 变异导致四代家族成员出现共济失调伴无精子症和表观早现现象

Xiao, Changrui; Zhu, David; Pryor, Jon; Frutiger, Sally A; Clark, H Brent; Casey, Hannah L; Bower, Matthew; Yu, Guo-Yun; Du, Xiaofei; Toro, Camilo; Gomez, Christopher M

Anti-CD320 Autoantibodies and Central Nervous System Vitamin B12 Deficiency in Idiopathic Myelopathy

抗CD320自身抗体和中枢神经系统维生素B12缺乏症在特发性脊髓病中的作用

Pluvinage, John V; Acero-Garces, David; Greco, Giacomo; Moseley, Carson E; Sidhu, Sukhman; Zorn, Kelsey C; Kondapavulur, Sravani; Richie, Megan; Douglas, Vanja; Mohan, Sonam; Neely, John; Masciocchi, Stefano; Businaro, Pietro; Sarreón, Alexis García; Gifreu, Ariadna; McCutcheon, Krista; Caspar, Colette; Zamecnik, Colin; Tubati, Asritha; Asencor, Andoni I; Tugizova, Madina; Louine, Martineau; Zuroff, Leah; Gerdts, Josiah; Karalius, Mary; Nylander, Alyssa; Liu, Max; Daghlas, Iyas; Suleiman, Leena; Nguyen, Todd; Meyer, Benjamin; Ibarra, Karen; Chow, Felicia; Galati, Alexandra; Mina, Yair; Toro, Camilo; Kang, Min; Shah, Maulik; Guterman, Elan L; Suen, Catherine G; Guo, Chu-Yueh; Bevan, Carolyn; Wesley, Sarah F; Kvam, Kathryn; Lee, Sydney; Abdelhak, Ahmed; Martin, Thomas; Huang, Yun-Han; Berman, Sarah B; Linnoila, Jenny; Engstrom, John; McCaddon, Andrew; Green, Ari J; Green, Ralph; Cree, Bruce; Hauser, Stephen; DeRisi, Joseph L; Pleasure, Samuel J; Gelfand, Jeffrey M; Bravo, Gary Álvarez; Gastaldi, Matteo; Pardo, Carlos A; Wilson, Michael R

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

少突胶质细胞沉默元件是层粘蛋白B1结构变异致病作用的基础。

Nmezi, Bruce; Rodriguez Bey, Guillermo; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F; Sousa, Sérgio B; Palavra, Filipe; Toro, Camilo; Pinto E Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S; Park, Yungki; Bernard, Geneviève; Raininko, Raili; Zhou, Jian; Hainer, Sarah J; Padiath, Quasar S

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism

RAB3A杂合变异通过部分功能丧失机制导致小脑共济失调。

Hengel, Holger; Hannan, Shabab B; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H; Lundberg, Julie; Rodan, Lance H; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A; Reich, Stephen; Toro, Camilo; Züchner, Stephan; Hazan, Jamilé; Pétursson, Hjörvar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schöls, Ludger; Synofzik, Matthis

Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G

与 VCP D395G 相关的空泡 tau 蛋白病的临床病理特征

Watanabe, Ryohei; Papatriantafyllou, John D; Maeda, Kengo; Aguirre, Geoffrey K; Ando, Masahiro; Benoit, Bernice; Grossman, Murray; Irwin, David J; Kim, Boram; Massimo, Lauren; McMillan, Corey T; Papageorgiou, Sokratis G; Phillips, Jeffrey S; Shiraishi, Tomoyuki; Sugihara, Yoshiko; Suh, EunRan; Takashima, Hiroshi; Toro, Camilo; Van Deerlin, Vivianna M; Nasrallah, Ilya M; Lee, Edward B

Organ Donation for Research Biobanking Among Historically Marginalized Racial and Ethnic Groups: A Systematic Review

历史上被边缘化的种族和族裔群体中用于研究生物样本库的器官捐献:系统性综述

Toro, Camilo; Eromosele, Oseiwe B; Flynn, David B; Wilson, Andrew A; Kotton, Darrell N; Hughes, Timothy M; Moreira-Bouchard, Jesse D; Post, Wendy S; Bertoni, Alain G; Benjamin, Emelia J; Gopal, Deepa M; Fetterman, Jessica L

Genomic map of the functionally extinct northern white rhinoceros (Ceratotherium simum cottoni)

已功能性灭绝的北方白犀牛(Ceratotherium simum cottoni)的基因组图谱

Wang, Gaojianyong; Korody, Marisa L; Brändl, Björn; Hernandez-Toro, Camilo Jose; Rohrandt, Christian; Hong, Karl; Pang, Andy Wing Chun; Lee, Joyce; Migliorelli, Giovanna; Stanke, Mario; Ford, Sarah M; Pollmann, Iris; Houck, Marlys L; Lewin, Harris A; Lear, Teri L; Ryder, Oliver A; Meissner, Alexander; Loring, Jeanne F; Müller, Franz-Josef

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

RRP12 变异与常染色体隐性遗传性脑钙化有关

Monfrini, Edoardo; Rinchetti, Paola; Anheim, Mathieu; Klingseisen, Anna; Lagha-Boukbiza, Ouhaid; Cen, Zhidong; Yang, Dehao; Chen, Xinhui; Maroofian, Reza; Houlden, Henry; Cappelletti, Gioia; Richard, Anne-Claire; Quenez, Olivier; Toro, Camilo; Frucht, Steven J; Lotti, Francesco; Luo, Wei; Hunt, David; Nicolas, Gael; Riboldi, Giulietta M

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

Association of life's essential 8 score with incidence of atrial fibrillation: The Framingham heart study

生命必需的8项指标评分与房颤发生率的关联:弗雷明汉心脏研究

Toro, Camilo; Daniels, Ayelet Shapira; Prescott, Brenton; Xanthakis, Vanessa; Nayor, Matthew; Gajjar, Priya; Benjamin, Emelia J; Preis, Sarah R