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

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria

如果基因检测未能确诊马凡综合征,则应考虑经典型同型半胱氨酸尿症:经典型同型半胱氨酸尿症成年兄弟姐妹的诊断延迟和表型变异

Sultan, Randa; Urlacher, Jordan; Athey, Taryn; Kannu, Peter; Seres, Peter; Mercimek-Andrews, Saadet

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

多聚(RC)结合蛋白基因PCBP1的从头突变会导致神经发育障碍

Deb, Wallid; Besnard, Thomas; Desprez, Florence; Cogné, Benjamin; Do Souto Ferreira, Laura; Vignard, Virginie; Marouillat, Sylviane; Januel, Louis; Gorokhova, Svetlana; Busa, Tiffany; Morel, Victor; Dauriat, Benjamin; Desportes, Vincent; Slavotinek, Anne M; An, Yu; Lee, Hane; Hary, Jessy; Kannu, Peter; Athey, Taryn B; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Dickson, Patricia; Muir, Alison M; Buchert, Rebecca; Haack, Tobias B; Imort, Dominic; Sousa, Sérgio B; Xavier, Belinda; Almeida, Pedro M; Rogac, Mihael; Peterlin, Borut; Kaspar, Sophie; Netzer, Christian; Zempel, Hans; Towne, Meghan C; Ladda, Roger L; Sell, Susan S; Gawlinski, Pawel; Song, Xiaofei; Wiszniewski, Wojciech; Calame, Daniel G; Posey, Jennifer E; Ebstein, Frederic; Lupski, James R; Isidor, Bertrand; Bézieau, Stéphane; Laumonnier, Frédéric; Küry, Sébastien

VLF: An R package for the analysis of very low frequency variants in DNA sequences

VLF:用于分析DNA序列中极低频变异的R软件包

Phillips, Jarrett D; Athey, Taryn B T; McNicholas, Paul D; Hanner, Robert H

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

单中心代谢遗传诊所线粒体长链脂肪酸氧化和肉碱缺陷的治疗结果

Ambrose, Anastasia; Sheehan, Melissa; Bahl, Shalini; Athey, Taryn; Ghai-Jain, Shailly; Chan, Alicia; Mercimek-Andrews, Saadet

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test

儿童癫痫中先天性糖基化障碍的患病率及抗癫痫药物对转铁蛋白等电聚焦试验的影响

Silver, Grace; Bahl, Shalini; Cordeiro, Dawn; Thakral, Abhinav; Athey, Taryn; Mercimek-Andrews, Saadet

Use of Genome Sequencing to Define Institutional Influenza Outbreaks, Toronto, Ontario, Canada, 2014-15.

利用基因组测序确定机构流感暴发,加拿大安大略省多伦多,2014-15 年

MacFadden Derek R, McGeer Allison, Athey Taryn, Perusini Stephen, Olsha Romy, Li Aimin, Eshaghi AliReza, Gubbay Jonathan B, Hanage William P

Canada-Wide Epidemic of emm74 Group A Streptococcus Invasive Disease

加拿大全国范围内爆发A组链球菌侵袭性疾病疫情

Teatero, Sarah; McGeer, Allison; Tyrrell, Gregory J; Hoang, Linda; Smadi, Hanan; Domingo, Marc-Christian; Levett, Paul N; Finkelstein, Michael; Dewar, Ken; Plevneshi, Agron; Athey, Taryn B T; Gubbay, Jonathan B; Mulvey, Michael R; Martin, Irene; Demczuk, Walter; Fittipaldi, Nahuel

Rapid Emergence of a New Clone Impacts the Population at Risk and Increases the Incidence of Type emm89 Group A Streptococcus Invasive Disease

新克隆株的迅速出现影响了高危人群,并增加了A组链球菌侵袭性疾病(emm89型)的发病率。

Teatero, Sarah; Coleman, Brenda L; Beres, Stephen B; Olsen, Randall J; Kandel, Christopher; Reynolds, Olivia; Athey, Taryn B T; Musser, James M; McGeer, Allison; Fittipaldi, Nahuel

High Incidence of Invasive Group A Streptococcus Disease Caused by Strains of Uncommon emm Types in Thunder Bay, Ontario, Canada

加拿大安大略省桑德贝市由罕见emm型菌株引起的侵袭性A组链球菌疾病高发

Athey, Taryn B T; Teatero, Sarah; Sieswerda, Lee E; Gubbay, Jonathan B; Marchand-Austin, Alex; Li, Aimin; Wasserscheid, Jessica; Dewar, Ken; McGeer, Allison; Williams, David; Fittipaldi, Nahuel