Jana Vandrovcová

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

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 7 papers. Top paper: “BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease”.

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genetics in Medicine(2022)10.1016/j.gim.2022.08.019

N/A

1.0DataRank · unranked

30 citations

Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi +14 more

Increased frequency of repeat expansion mutations across different populations

medRxiv(2023)10.1101/2023.07.03.23292162

N/A

0DataRank · unranked

14 citations

Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini +26 more

Charcot-Marie-Tooth disease type 2CC due toNEFHvariants causes a progressive, non-length-dependent, motor-predominant phenotype

Journal of Neurology Neurosurgery & Psychiatry(2021)10.1136/jnnp-2021-327186

N/A

0DataRank · unranked

17 citations

Andrea Cortese, James M. Polke, Roy Poh, Jana Vandrovcová, Matilde Laurá +15 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

Profiling complex repeat expansions in RFC1 in Parkinson’s disease

npj Parkinson s Disease(2024)10.1038/s41531-024-00723-0

N/A

0DataRank · unranked

20 citations

Kensuke Daida, Abigail Miano‐Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan +16 more

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52141

N/A

0DataRank · unranked

2 citations

Katherine Schon, Jana Vandrovcová, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu +30 more

Increased frequency of repeat expansion mutations across different populations

Nature Medicine(2024)10.1038/s41591-024-03190-5

N/A

0DataRank · unranked

74 citations

Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini +25 more