Nicol C. Voermans

Also affiliated with Radboud University Medical Center

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 13 papers. Top paper: “Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation”.

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

JCI Insight(2021)10.1172/jci.insight.148363

N/A

0.648DataRank · unranked

74 citations

Hong Joo Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck +21 more

Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation

Nature Communications(2020)10.1038/s41467-020-18865-z

N/A

0.489DataRank · unranked

25 citations

Chang Seok Lee, Rachel Sue Zhen Yee, Linda Groom, Inbar Friedman, Lyle W. Babcock +18 more

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

Neurology(2020)10.1212/wnl.0000000000008977

N/A

0DataRank · unranked

12 citations

Nicol C. Voermans, Robbert van der Pijl, Marloes van den Berg, Arend Heerschap, Hieronymus Van Hees +5 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

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium

Journal of Clinical Investigation(2021)10.1172/jci145700

N/A

0DataRank · unranked

24 citations

Sandra Donkervoort, Josine M. de Winter, Stefan Conijn, Leon P. L. Begthel, Benno Küsters +20 more

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Brain(2023)10.1093/brain/awad312

N/A

0DataRank · unranked

16 citations

Russell J. Butterfield, Patrick J. van der Vliet, Jan De Bleecker, Ludo van der Pol, Diane M. Dunn +18 more

Gene therapy for X-linked myotubular myopathy: the challenges

The Lancet Neurology(2023)10.1016/s1474-4422(23)00416-7

N/A

0DataRank · unranked

6 citations

Ana Ferreiro, Annemieke Aartsma‐Rus, Heinz Jungbluth, Nicol C. Voermans

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Clinical Genetics(2024)10.1111/cge.14533

N/A

0DataRank · unranked

42 citations

Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier +16 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

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

Acta Neuropathologica(2020)10.1007/s00401-020-02150-w

N/A

0DataRank · unranked

67 citations

Joshua J. Todd, Jessica W. Witherspoon, Qi Yuan, Steven Reiken, Harvey Lin +22 more

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective

Journal of Neuromuscular Diseases(2024)10.3233/jnd-240029

N/A

0DataRank · unranked

3 citations

Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sárközy +8 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