Aida M. Bertoli‐Avella

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: “Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease”.

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2102804118

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0DataRank · unranked

85 citations

Anna‐Lena Neehus, Rui Yang, Masato Ogishi, Jérémie Rosain, Fayhan Alroqi +35 more

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

New England Journal of Medicine(2021)10.1056/nejmoa2033911

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0DataRank · unranked

46 citations

Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo +25 more

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.003

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0DataRank · unranked

23 citations

Sze Hwee Seet, Michael Maier, Ayşe Gürel, Ricardo Moreno Traspas, Cheryl Lee +67 more

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

medRxiv(2021)10.1101/2021.03.31.21253863

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0DataRank · unranked

0 citations

Sze Hwee Seet, Michael Maier, Ricardo Moreno Traspas, Cheryl Lee, Zhang Shan +42 more

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51634

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0DataRank · unranked

24 citations

Joshua G. Pemberton, Elizabeth Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi +13 more

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

European Journal of Human Genetics(2022)10.1038/s41431-022-01046-5

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0DataRank · unranked

16 citations

Lea Urpa, Bishwa Ghimire, Hande Topa, Mitja Kurki, Maryna Koskela +15 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

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0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 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

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0DataRank · unranked

10 citations

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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

medRxiv(2025)10.1101/2025.07.17.25331211

N/A

0DataRank · unranked

0 citations

Carlos González, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza +34 more