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

Interlaboratory assessment of candidate reference materials for lentiviral vector copy number and integration site measurements

对慢病毒载体拷贝数和整合位点测量的候选参考物质进行实验室间评估

He, Hua-Jun; He, Zhiyong; Lund, Steven P; Turner, Laure; Fan, Yongjun; Qiu, Yu; Corney, David C; Dropulic, Boro; Orentas, Rimas; Slessareva, Oxana; Welch, Priscilla; Dungca, Katie; Stelloo, Ellen; Dijksteel, Gabrielle; Feitsma, Harma; Ahmed-Seghir, Sana; Makarenko, Rostyslav; Altunlu, Engin; Steenmans, Daniëlle; Spanholtz, Jan; Raimo, Monica; Senderovich, Shai; Paugh, Barbara S; Li, Chieh-Yuan; Schroeder, Benjamin; Whale, Alexandra S; Yener, Dilek; Foy, Carole A; Nahas, Shareef; Tu, Feng; Sheldon, Michael; Ding, Yan; Kandell, Jennifer; Lakshmipathy, Uma; McDaniel, Jennifer H; Zook, Justin M; Miller, Sierra; Maragh, Samantha; Patange, Simona; Mohiuddin, Mahir; Tona, Alessandro; Cole, Kenneth D; Lin-Gibson, Sheng

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

病例报告:深度测序和长读长基因组测序可改进先前对PIK3CD相关活化PI3Kδ综合征中存在性腺嵌合现象家族的遗传分析。

Orellana, Halyn; Yan, Jia; Paul, Alex; Tokita, Mari; Ding, Yan; Ghosh, Rajarshi; Lewis, Katie L; Davis, Joie; Jamal, Leila; Jodarski, Colleen; Similuk, Morgan; Saucier, Nermina; Zhu, Zhanyang; Wang, Yihe; Wu, Sitao; Ruggieri, Jason; Su, Helen C; Uzel, Gulbu; Nahas, Shareef; Cooper, Megan; Walkiewicz, Magdalena A

Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program

利用病毒测序技术鉴定SARS-CoV-2变异株,用于美国疾病控制与预防中心基因组监测计划

Goswami, Chirayu; Sheldon, Michael; Bixby, Christian; Keddache, Mehdi; Bogdanowicz, Alexander; Wang, Yihe; Schultz, Jonathan; McDevitt, Jessica; LaPorta, James; Kwon, Elaine; Buyske, Steven; Garbolino, Dana; Biloholowski, Glenys; Pastuszak, Alex; Storella, Mary; Bhalla, Amit; Charlier-Rodriguez, Florence; Hager, Russ; Grimwood, Robin; Nahas, Shareef A

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

基于快速测序的硫胺素代谢功能障碍综合征诊断

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

出版商更正:快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

作者更正:快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

一名患有钼辅因子缺乏症的新生儿的死亡凸显了建立全面、快速、精准医疗系统的必要性。

Kingsmore, Stephen F; Ramchandar, Nanda; James, Kiely; Niemi, Anna-Kaisa; Feigenbaum, Annette; Ding, Yan; Benson, Wendy; Hobbs, Charlotte; Nahas, Shareef; Chowdhury, Shimul; Dimmock, David

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

缬氨酰-tRNA合成酶基因VARS的双等位基因突变与进行性神经发育性癫痫性脑病有关

Friedman Jennifer, Smith Desiree E, Issa Mahmoud Y, Stanley Valentina, Wang Rengang, Mendes Marisa I, Wright Meredith S, Wigby Kristen, Hildreth Amber, Crawford John R, Koehler Alanna E, Chowdhury Shimul, Nahas Shareef, Zhai Liting, Xu Zhiwen, Lo Wing-Sze, James Kiely N, Musaev Damir, Accogli Andrea, Guerrero Kether, Tran Luan T, Omar Tarek E I, Ben-Omran Tawfeg, Dimmock David, Kingsmore Stephen F, Salomons Gajja S, Zaki Maha S, Bernard Geneviève, Gleeson Joseph G