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

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG

常染色体显性遗传STT3A-CDG的扩展临床谱

Al-Shahrani, Hamdan; Szabó, Evelin; Staccone, Caroline; MacDonald, Georgia; Furuta, Yutaka; Schecter, Daniel; Edmondson, Andrew C; McRae, Anne; Baker, Josh; Morava, Eva; Tinker, Rory J

Map of the neuronal O-glycoproteome reveals driver functions in the regulated secretory pathway.

神经元 O-糖蛋白组图谱揭示了调控分泌途径中的驱动功能

Madsen Thomas D, Topaktas Asli B, Dworkin Leo A, Hintze John, Hansen Lasse H, Nikpour Mahnaz, Lackman Jarkko J, Goth Christoffer K, Larson Göran, Shiplett Emily J, Edmondson Andrew C, Zhou Zhaolan, Miller Rebecca L, Joshi Hiren J, Vakhrushev Sergey Y, Schjoldager Katrine T

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

PMM2-CDG 中的目标达成情况:一种衡量有意义临床结果的新方法

Verberkmoes, Sanne; Mazza, Gina L; Edmondson, Andrew C; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C H; Mousa, Jehan; Larson, Austin; Shah, Rameen; McDonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva

Causes of mortality in the congenital disorders of glycosylation

先天性糖基化障碍的死亡原因

Alharbi, Hana; Horikoshi, Seishu; Jenkins, Sabrina Malone; Scaglia, Fernando; Lam, Christina; Morava, Eva; Larson, Austin; Edmondson, Andrew C

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism

将CARS1变异体的表型扩展至包括先天性高胰岛素血症

Sanders, Victoria R; Edmondson, Andrew C; Yan, Albert C; De Leon, Diva D

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

新型小鼠模型揭示了 PMM2-CDG 脑部病理的神经发育起源

Edmondson Andrew C, Budhraja Rohit, Xia Zijie, Melendez-Perez Ashley, Cai Cadmus, Radenkovic Silvia, Collins Ashley M, Shiplett Emily J, Hill Sophie F, Somarowthu Ala, Dam Johanna, Pai Ling-Lin, Santi Mariarita, Kim Seonhee, He Miao, Goldberg Ethan M, Kozicz Tamas, Morava Eva, Pandey Akhilesh, Zhou Zhaolan

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

遗传性糖基磷脂酰肌醇缺乏症的临床和遗传谱

Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M; Jewell, Jerry L; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Delgado Alvarez, Ignacio; Felipe-Rucián, Ana; Haridy, Nourelhoda A; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; Rahman, Fatima; Maqbool, Shazia; Yadav, Rashmi; Salpietro, Vincenzo; Maroofian, Reza; Patel, Rajan; Radhakrishnan, Rupa; Prabhu, Sanjay P; Lichtenbelt, Klaske; Stewart, Helen; Murakami, Yoshiko; Löbel, Ulrike; D'Arco, Felice; Wakeling, Emma; Jones, Wendy; Hay, Eleanor; Bhate, Sanjay; Jacques, Thomas S; Mirsky, David M; Whitehead, Matthew T; Zaki, Maha S; Sultan, Tipu; Striano, Pasquale; Jansen, Anna C; Lequin, Maarten; de Vries, Linda S; Severino, Mariasavina; Edmondson, Andrew C; Menzies, Lara; Campeau, Philippe M; Houlden, Henry; McTague, Amy; Efthymiou, Stephanie; Mankad, Kshitij

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