Erik‐Jan Kamsteeg

Also affiliated with Radboud University Medical Center, Radboud Institute for Molecular Life Sciences

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 9 papers. Top paper: “Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice”.

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

Journal of the American Heart Association(2022)10.1161/jaha.122.026494

N/A

0.464DataRank · unranked

21 citations

Andreia M. Nunes, Ariany Oliveira‐Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza‐Flores +19 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 more

Making sense of missense variants in TTN-related congenital myopathies

Acta Neuropathologica(2021)10.1007/s00401-020-02257-0

N/A

0DataRank · unranked

67 citations

Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige +40 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

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter

Human Molecular Genetics(2022)10.1093/hmg/ddac156

N/A

0DataRank · unranked

42 citations

Galit Tal, Andrew T DiStasio, Yanyan Peng, Christiana Charalambous, Paola Nicolaides +10 more

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Human Molecular Genetics(2022)10.1093/hmg/ddac053

N/A

0DataRank · unranked

17 citations

Patrick Rump, Di Lu, Megan R. Glassford, Jung-Wan Mok, Jawid M. Fatih +12 more

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Movement Disorders(2022)10.1002/mds.29147

N/A

0DataRank · unranked

11 citations

Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen +32 more

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Human Molecular Genetics(2020)10.1093/hmg/ddaa108

N/A

0DataRank · unranked

37 citations

Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman +18 more

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more