Annalaura Torella

University of Campania "Luigi Vanvitelli"

Also affiliated with Telethon Institute Of Genetics And Medicine

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

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 12 papers. Top paper: “Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome”.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019

N/A

0.568DataRank · unranked

43 citations

Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi +80 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0.564DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

10.1101/2020.04.03.20047977

N/A

0.564DataRank · unranked

42 citations

Tita Rossella, Ottavia Spiga, Andrea Ciolfi, Birolo Giovanni, Alessandro Bruselles +21 more

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Human Mutation(2020)10.1002/humu.24079

N/A

0.553DataRank · unranked

39 citations

Nicole J. Van Bergen, Kristen J. Verhey, Cameron J. Nowell, Breane Budaitis, Yang Yue +18 more

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101097

N/A

0.460DataRank · unranked

10 citations

Young Nyun Park, Guy M. Lenk, Mariasavina Severino, Marcello Scala, Jonas Denecke +17 more

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

European Journal of Human Genetics(2023)10.1038/s41431-023-01305-z

N/A

0.385DataRank · unranked

12 citations

Giuseppe Marangi, Daniela Orteschi, Silvia Frangella, Fiorella Gurrieri, Elisa Paccagnella +25 more

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature Communications(2024)10.1038/s41467-023-44611-2

N/A

0DataRank · unranked

15 citations

Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David R. Bell +53 more

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

Genetics in Medicine(2023)10.1016/j.gim.2023.101057

N/A

0DataRank · unranked

11 citations

Kamal Khan, Claire Bénéteau, Rachel Fox, Sandra von Hardenberg, Ayaz Khan +23 more

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

N/A

0DataRank · unranked

3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.06.425612

N/A

0DataRank · unranked

0 citations

Miriam C. Aziz, Hannah C. Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed +24 more

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

Brain(2021)10.1093/brain/awab451

N/A

0DataRank · unranked

9 citations

Miriam C. Aziz, Hannah C. Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed +24 more