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A

Andrew C. Edmondson

The Children's Hospital of Philadelphia
H指数:29
被引数:6,618

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Disease-specific growth charts capture characteristic growth patterns in children with PMM2 – CDG

PMM2 – CDG患儿疾病特异性生长曲线捕捉特征性生长模式

Molecular Genetics and Metabolism
IF3.5
2026-04-200
OAAI
Kyriakie Sarafoglou; Christina Lam; Andrew C. Edmondson; Andrea Miller; Rodrigo T. Starosta; Aziza Zeighami; Seishu Horikoshi; Hayden Vreugdenhil; Fernando Scaglia; Tamas Kozicz; Queenie K.G. Tan; Bradley S. Miller; Iván Martínez-Duncker; Gerard T. Berry; Peter McWilliams; Eva Morava; Yaw Addo
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

Science Advances
IF12.5
2026-04-150
OA
Robert Wang; Feng Wang; Nicole DeBruyne; Xinjun Ji; Nicole M. Engelhardt; Joseph Jee-Hwan Park; Amber Notaro; Samantha Gaerlan; Ryan Park; Matthew J. Schultz; Sheila Clever; Elizabeth M. McCormick; Kelsey Keith; Bobby G. Ng; Kathryn E. Kadash-Edmondson; Hudson H. Freeze; Christina T. Lam; Eva Morava; Ingo Helbig; Marni J. Falk; Rebecca D. Ganetzky; Andrew C. Edmondson; Lan Lin; Yi Xing
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers

L-岩藻糖补充治疗全球岩藻糖基化降低及SLC35C1单等位基因变异患者的临床改善与生物标志物评估

Molecular Genetics and Metabolism
IF3.5
2026-01-010
PRE
Starosta, Rodrigo T.; He, Miao; Gracie, Sara; Kierstein, Janell; Thiel, Christian; Himmelreich, Nastassja; Liu, Yupeng; Zhang, Wenyue; Edmondson, Andrew C.; Meeks, Naomi; Larson, Austin; Van Hove, Johan L. K.; Kochhar, Aaina
Corrigendum to “Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]”

勘误：“Phosphomannomutase 2-congenital disorder of glycosylation的发病率和患病率：过去、现在和未来 [Molecular Genetics and Metabolism 146 (2025) 109188]”

Molecular Genetics and Metabolism
IF3.5
2025-10-140
OAAI
Andrew C. Edmondson; Tomas Honzik; Christina Lam; Katrin Ounap; Peter McWilliams; Eva Morava
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节分泌途径中的驱动功能

Journal of Biological Chemistry
IF3.9
2025-07-010
OA
Thomas D. Madsen; Asli B. Topaktas; Leo A. Dworkin; John Hintze; Lasse H. Hansen; Mahnaz Nikpour; Jarkko J. Lackman; Christoffer K. Goth; Göran Larson; Emily J. Shiplett; Andrew C. Edmondson; Zhaolan Zhou; Rebecca L. Miller; Hiren J. Joshi; Sergey Y. Vakhrushev; Katrine T. Schjoldager
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
HUMAN MUTATION
IF3.7
2024-10-030
OA
Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-08-017
PRE
Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG

补体C4-derived糖肽是PMM2-CDG的生物标志物

JCI INSIGHT
IF6.1
2024-04-081
OA
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
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
BRAIN
IF11.7
2024-03-083
OAAI
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; Alvarez, Ignacio Delgado; Felipe-Rucian, 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; Lobel, 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

研究方向

暂未获取到该数据
É
Éva Morava
H 指数:70论文数:581被引数:1.6万
C
Christina Lam
H 指数:21论文数:98被引数:1,951
D
Daniel J. Rader
H 指数:172论文数:1,513被引数:13.9万
P
Peter Witters
H 指数:33论文数:128被引数:3,346
A
Austin Larson
H 指数:26论文数:110被引数:2,589
H
Hudson H. Freeze
H 指数:76论文数:529被引数:2.5万
S
Silvia Radenkovic
H 指数:16论文数:52被引数:793
F
Fernando Scaglia
H 指数:68论文数:303被引数:1.5万
A
Anna N. Ligezka
H 指数:15论文数:41被引数:576
R
Rita Barone
H 指数:47论文数:326被引数:8,520