Alessandra Ferlini

Also affiliated with Department of Medical Sciences, Mother Hospital

Biochemistry, 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 6 papers. Top paper: “TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy”.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

European Journal of Human Genetics(2020)10.1038/s41431-019-0563-6

N/A

0DataRank · unranked

41 citations

Pietro Spitali, Irina Zaharieva, Stefan Böhringer, Monika Hiller, Amina Chaouch +19 more

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Brain Communications(2021)10.1093/braincomms/fcab245

N/A

0DataRank · unranked

32 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +53 more

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Genetics in Medicine(2025)10.1016/j.gim.2025.101618

N/A

0DataRank · unranked

4 citations

Julie Yeo, Thomas Minten, Rose Heald, Derek Ansel, Mei Baker +89 more

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03742-z

N/A

0DataRank · unranked

5 citations

Alessandro Colitta, Manuela Lavorato, Peter Van den Bergh, Janbernd Kirschner, Cornelia Kornblum +13 more