Paolo Prontera

Also affiliated with Azienda Ospedaliera di Perugia, Ospedale Santa Maria, Misericordia University

Biochemistry, Genetics and Molecular Biology

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: “Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects”.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0.515DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 more

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

medRxiv(2024)10.1101/2024.08.27.24312158

N/A

0.269DataRank · unranked

5 citations

Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew T. Oetjens +65 more

Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a mice

Neurobiology of Disease(2023)10.1016/j.nbd.2023.106119

N/A

0DataRank · unranked

9 citations

Miriam Sciaccaluga, Carolyn A. Worby, Luis Zafra‐Puerta, Nerea Iglesias‐Cabeza, Gema Sánchez‐Martín +5 more

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

medRxiv(2023)10.1101/2023.05.18.23290169

N/A

0DataRank · unranked

5 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 more

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.015

N/A

0DataRank · unranked

40 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

eLife(2024)10.7554/elife.95887

N/A

0DataRank · unranked

2 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

medRxiv(2024)10.1101/2024.01.08.23300523

N/A

0DataRank · unranked

0 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Neuronal Hyperexcitability: A Key to Unravelling Hippocampal Synaptic Dysfunctions in Lafora Disease

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.04.23.650182

N/A

0DataRank · unranked

0 citations

Laura Bellingacci, Jacopo Canonichesi, Valentina Imperatore, Anna Aurora Taddei, Luis Zafra‐Puerta +12 more

Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia

Human Molecular Genetics(2025)10.1093/hmg/ddaf195

N/A

0DataRank · unranked

0 citations

Rebecca C. Spillmann, David A. Wenger, Maria Giovanna Tedesco, Malene Brohus, Antonio Novelli +24 more