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

Patient iPSC-Derived Cartilage Organoids Reveal Defective ECM Deposition and Altered Chondrogenic Trajectory in Saul-Wilson Syndrome

患者来源的iPSC衍生软骨类器官揭示了Saul-Wilson综合征中细胞外基质沉积缺陷和软骨形成轨迹改变

Mahajan, Sonal; Ancel, Sara; Ascone, Giuliana; Kaur, Rajdeep; Torres, Juancarlos; Murad, Rabi; Wang, Yu Xin; Ferreira, Carlos R; Freeze, Hudson H

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics

SLC35A2功能缺失变异体影响糖组学特征、神经元命运和网络动力学

Lai, Dulcie; Sosicka, Paulina; Williams, Damian J; Bowyer, MaryAnn E; Ressler, Andrew K; Kohrt, Sarah E; Muron, Savannah J; Crino, Peter B; Freeze, Hudson H; Boland, Michael J; Heinzen, Erin L

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

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

WASHC3基因(WASH复合体的一个组成部分)的变异会导致身材矮小、不同程度的神经发育异常和独特的面部畸形。

Jee, Youn Hee; Lui, Julian C; Marafi, Dana; Xia, Zhi-Jie; Bhatia, Ruchika; Zhou, Elaine; Herman, Isabella; Temnycky, Adrian; Whalen, Philip; Elliot, Gene; Leschek, Ellen W; Wijngaard, Robin; van Beek, Ronald; de Vreugd, Annemarie; de Vries, Maaike C; van Karnebeek, Clara D M; Oud, Machteld M; Markello, Thomas C; Barnes, Kevin M; Alrohaif, Hadil; Freeze, Hudson H; Gahl, William A; Malicdan, May Christine V; Posey, Jennifer E; Lupski, James R; Baron, Jeffrey

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

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG

补体C4衍生的糖肽是PMM2-CDG的生物标志物。

Garapati, Kishore; Budhraja, Rohit; Saraswat, Mayank; Kim, Jinyong; Joshi, Neha; Sachdeva, Gunveen S; Jain, Anu; Ligezka, Anna N; Radenkovic, Silvia; Ramarajan, Madan Gopal; Udainiya, Savita; Raymond, Kimiyo; He, Miao; Lam, Christina; Larson, Austin; Edmondson, Andrew C; Sarafoglou, Kyriakie; Larson, Nicholas B; Freeze, Hudson H; Schultz, Matthew J; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG

ALG3-CDG 中糖链延伸不足和内质网应激

Daniel, Earnest J P; Edmondson, Andrew C; Argon, Yair; Alsharhan, Hind; Lam, Christina; Freeze, Hudson H; He, Miao

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