Dirk J. Lefeber

Also affiliated with Radboud University Medical Center

Biochemistry, Genetics and Molecular BiologyChemistryMedicineImmunology and Microbiology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 10 papers. Top paper: “Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation”.

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.010

N/A

0.785DataRank · unranked

21 citations

Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman +23 more

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-020-01609-z

N/A

0.667DataRank · unranked

14 citations

Hans C. Andersson, Jaak Jaeken, Laura A. Tseng, Clara D.M. van Karnebeek, Dirk J. Lefeber +3 more

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Hepatology(2020)10.1002/hep.31218

N/A

0.596DataRank · unranked

52 citations

Laurie A. Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal +23 more

Defective Lipid Droplet–Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115

Cellular and Molecular Gastroenterology and Hepatology(2021)10.1016/j.jcmgh.2021.09.013

N/A

0DataRank · unranked

29 citations

Marjolein A.W. van den Boogert, W. Alfredo Ríos‐Ocampo, Jos C. Jansen, Donna Conlon, Patrick L.E. Chong +14 more

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.012

N/A

0DataRank · unranked

17 citations

Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha Ranatunga, Marina Ventouratou +30 more

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes

International Journal of Molecular Sciences(2023)10.3390/ijms24031937

N/A

0DataRank · unranked

16 citations

Merel A. Post, Pieter Langerhorst, Karin Huijben, Fokje Zijlstra, Joannes F.M. Jacobs +4 more

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12286

N/A

0DataRank · unranked

66 citations

Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Čechová +31 more

Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in Drosophila

eLife(2023)10.7554/elife.78280

N/A

0DataRank · unranked

7 citations

Boris Novikov, Berrak Uğur, Brooke Allen, И. Б. Мерцалов, Pedro Monagas-Valentin +9 more

Glycocalyx-mediated Cell Adhesion and Migration

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.06.12.149096

N/A

0DataRank · unranked

8 citations

Bettina Weigelin, Joost te Riet, Veronika te Boekhorst, Mariska te Lindert, Mietske Wijers-Rouw +12 more

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

N/A

0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 more