Ginevra Zanni

NeuroscienceBiochemistry, Genetics and Molecular BiologyMedicine

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: “Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients”.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients

Annals of Neurology(2020)10.1002/ana.25751

N/A

0DataRank · unranked

77 citations

Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich +37 more

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

medRxiv(2020)10.1101/2020.12.07.20238691

N/A

0DataRank · unranked

1 citations

Aarushi Nayak, Nathan D. Bliss, Vanesa Lerma, Ashley W. LeMaire, Vinodh Narayanan +8 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

N/A

0DataRank · unranked

117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Movement Disorders(2022)10.1002/mds.28959

N/A

0DataRank · unranked

26 citations

Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau +33 more

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Annals of Neurology(2022)10.1002/ana.26359

N/A

0DataRank · unranked

16 citations

Vanesa Lerma, Christina L. Magyar, Jessica M. Pfliger, Aarushi Nayak, Nathan D. Bliss +10 more

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Nature Communications(2023)10.1038/s41467-023-39040-0

N/A

0DataRank · unranked

24 citations

Stefanie Eggers, Ben Rollo, Katherine R. Smith, N. Davidson, Nicole A. Siddall +38 more

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications(2024)10.1038/s41467-024-45933-5

N/A

0DataRank · unranked

10 citations

Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü +52 more