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

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

靶向长读长RNA测序用于罕见病诊断和变异解读

Wang, Robert; Wang, Feng; DeBruyne, Nicole; Ji, Xinjun; Engelhardt, Nicole M; Park, Joseph Jee-Hwan; Notaro, Amber; Gaerlan, Samantha; Park, Ryan; Schultz, Matthew J; Clever, Sheila; McCormick, Elizabeth M; Keith, Kelsey; Ng, Bobby G; Kadash-Edmondson, Kathryn E; Freeze, Hudson H; Lam, Christina T; Morava, Eva; Helbig, Ingo; Falk, Marni J; Ganetzky, Rebecca D; Edmondson, Andrew C; Lin, Lan; Xing, Yi

Omics Technologies in Molecular Biology

分子生物学中的组学技术

Ng, Bobby G; Zhang, Wenyue; Neil, Jennifer E; Danish, Marwa; Marafi, Dana; Kamal, Tarek M; Bastaki, Laila; Al Saffar, Muna; Yang, Edward; He, Miao; Walsh, Christopher A; Mochida, Ganeshwaran H; Freeze, Hudson H; Cortés, Andrés J

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

常染色体显性遗传性HK1相关神经发育障碍伴视觉缺陷和脑部异常(NEDVIBA):一种新出现的线粒体疾病

Ng, Bobby G; Eklund, Erik A; Rosenfeld, Jill A; Elias, Abdallah F; Abu-El-Haija, Aya; Bris, Celine; Barth, Magalie; Chae, Jong-Hee; Choi, Murim; Dubbs, Holly A; Fratter, Carl; Foulds, Nicola; Gamble, Candace; Gavrilova, Ralitza H; Haven, Jaclyn; Hoffman, Trevor L; Hunter, Jill V; Larson, Austin; Lotze, Timothy Edward; Magoulas, Pilar; Magness, Emily C; Bootin, Debra M; Marsh, Eric D; Nesbitt, Victoria; Pastore, Matthew T; Poulton, Joanna; Rahman, Shamima; Scaglia, Fernando; Murali, Chaya; Posey, Jennifer; Rotenberg, Joshua; Schmalz, Betsy; Shinde, Deepali N; Powis, Zöe; Sukenik-Halevy, Rivka; Truxal, Kristen V; Uster, Tami; Machado Bressan Wilke, Matheus Vernet; Klee, Erik; Woo, Hyewon; Younkin, Donald; Zhao, Jianhua; Granadillo, Jorge; Lalani, Seema; Chitayat, David; Chung, Wendy K; Freeze, Hudson H; Okur, Volkan

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

先天性糖基化障碍的临床和生化特征:拟议的分类学

Ng, Bobby G; Freeze, Hudson H; Himmelreich, Nastassja; Blau, Nenad; Ferreira, Carlos R

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

ALG13先天性糖基化障碍(ALG13-CDG):最新临床和分子综述及临床管理指南

Shah, Rameen; Eklund, Erik A; Radenkovic, Silvia; Sadek, Mustafa; Shammas, Ibrahim; Verberkmoes, Sanne; Ng, Bobby G; Freeze, Hudson H; Edmondson, Andrew C; He, Miao; Kozicz, Tamas; Altassan, Ruqaiah; Morava, Eva

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation

先天性糖基化障碍中氧固醇和N-棕榈酰-O-磷酸胆碱丝氨酸水平升高

Dang Do, An N; Chang, Irene J; Jiang, Xutian; Wolfe, Lynne A; Ng, Bobby G; Lam, Christina; Schnur, Rhonda E; Allis, Katrina; Hansikova, Hana; Ondruskova, Nina; O'Connor, Shawn D; Sanchez-Valle, Amarilis; Vollo, Arve; Wang, Raymond Y; Wolfenson, Zoe; Perreault, John; Ory, Daniel S; Freeze, Hudson H; Merritt, J Lawrence; Porter, Forbes D

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking

COG3基因的双等位基因错义变异会导致先天性糖基化障碍,并伴有逆行囊泡运输受损。

Duan, Ruizhi; Marafi, Dana; Xia, Zhi-Jie; Ng, Bobby G; Maroofian, Reza; Sumya, Farhana Taher; Saad, Ahmed K; Du, Haowei; Fatih, Jawid M; Hunter, Jill V; Elbendary, Hasnaa M; Baig, Shahid M; Abdullah, Uzma; Ali, Zafar; Efthymiou, Stephanie; Murphy, David; Mitani, Tadahiro; Withers, Marjorie A; Jhangiani, Shalini N; Coban-Akdemir, Zeynep; Calame, Daniel G; Pehlivan, Davut; Gibbs, Richard A; Posey, Jennifer E; Houlden, Henry; Lupashin, Vladimir V; Zaki, Maha S; Freeze, Hudson H; Lupski, James R

The Swedish COG6-CDG experience and a comprehensive literature review

瑞典 COG6-CDG 的经验和全面的文献综述

Xia, Zhi-Jie; Ng, Bobby G; Jennions, Elizabeth; Blomqvist, Maria; Sandqvist Wiklund, Anneli; Hedberg-Oldfors, Carola; Gonzalez, Carlos Rodriguez; Freeze, Hudson H; Ygberg, Sofia; Eklund, Erik A

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines

ALG8-CDG:分子和表型扩展提示临床管理指南

Albokhari, Daniah; Ng, Bobby G; Guberinic, Alis; Daniel, Earnest James Paul; Engelhardt, Nicole M; Barone, Rita; Fiumara, Agata; Garavelli, Livia; Trimarchi, Gabriele; Wolfe, Lynne; Raymond, Kimiyo M; Morava, Eva; He, Miao; Freeze, Hudson H; Lam, Christina; Edmondson, Andrew C