Federico Zara

Also affiliated with Istituti di Ricovero e Cura a Carattere Scientifico, University of Genoa

MedicineBiochemistry, 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 2%percentile

2.3Author 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327

Top 9%

2.3DataRank

Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Papers

Driven by 24 papers — median percentile 91. Top paper: “Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications”.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Brain(2021)10.1093/brain/awab321

N/A

2.9DataRank · unranked

149 citations

Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert +95 more

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327

Top 9%

2.3DataRank

Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Diagnostic Approach to Macrocephaly in Children

Frontiers in Pediatrics(2022)10.3389/fped.2021.794069

N/A

0.604DataRank · unranked

55 citations

Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura +9 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Genome Medicine(2024)10.1186/s13073-024-01339-y

N/A

0.292DataRank · unranked

6 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +49 more

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

medRxiv(2021)10.1101/2021.03.22.21253711

N/A

0DataRank · unranked

5 citations

Yuanyuan Liu, Cathrine E. Gjerulfsen, Mahmoud Koko, Lukas Sonnenberg, Julian Schubert +95 more

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

medRxiv(2021)10.1101/2021.06.01.21257500

N/A

0DataRank · unranked

0 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +21 more

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

Neurology Genetics(2022)10.1212/nxg.0000000000000676

N/A

0DataRank · unranked

49 citations

Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Ríos +53 more

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Neurology(2022)10.1212/wnl.0000000000200660

N/A

0DataRank · unranked

21 citations

Simone Seiffert, Manuela Pendziwiat, Annika Rademacher, Tobias Brünger, Ulrike B. S. Hedrich +43 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants

Human Molecular Genetics(2023)10.1093/hmg/ddad188

N/A

0DataRank · unranked

13 citations

Kathryn B. Garber, Riley E. Perszyk, Cara T Khayat, Steven A. Kell, Maki Kaneko +22 more

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

European Journal of Human Genetics(2020)10.1038/s41431-020-0669-x

N/A

0DataRank · unranked

36 citations

Geok Lin Chua, Cheen Fei Chin, Hessa S. Alsaif, Artem Borovikov, Saima Riazuddin +25 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

medRxiv(2023)10.1101/2023.12.21.23300383

N/A

0DataRank · unranked

4 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +22 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

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Brain(2024)10.1093/brain/awae010

N/A

0DataRank · unranked

14 citations

Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang +24 more

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.003

N/A

0DataRank · unranked

10 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +29 more

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

Brain(2024)10.1093/brain/awae371

N/A

0DataRank · unranked

5 citations

Lee B. Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi +36 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

medRxiv(2024)10.1101/2024.01.14.24301100

N/A

0DataRank · unranked

1 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +47 more

Genome-wide association meta-analyses of drug-resistant epilepsy

EBioMedicine(2025)10.1016/j.ebiom.2025.105675

N/A

0DataRank · unranked

12 citations

Andreja Avberšek, Remi Stevelink, Helena Martins Custodio, Siwei Chen, Doug Speed +88 more

Esc peptides and derivatives potentiate the activity of CFTR with gating defects and display antipseudomonal activity in cystic fibrosis-like lung disease

Cellular and Molecular Life Sciences(2025)10.1007/s00018-025-05633-9

N/A

0DataRank · unranked

1 citations

Floriana Cappiello, Arianna Venturini, Hexin Lu, Bruno Casciaro, Giacomo Cappella +9 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

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Brain(2021)10.1093/brain/awab313

N/A

0DataRank · unranked

53 citations

Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney +40 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

0DataRank · unranked

42 citations

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

Federico Zara

Indexed papers

Top data-sharing exemplar

Papers