Alfredo Brusco

Also affiliated with Azienda Ospedaliera Citta' della Salute e della Scienza di Torino, Department of Medical Sciences, University of Turin

NeuroscienceBiochemistry, 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 5%percentile

0.461Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Papers

Driven by 19 papers — median percentile 59. Top paper: “Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism”.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Cell(2020)10.1016/j.cell.2019.12.036

N/A

9.5DataRank · unranked

2470 citations

Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An +95 more

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

N/A

0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 more

Effects of eight neuropsychiatric copy number variants on human brain structure

Translational Psychiatry(2021)10.1038/s41398-021-01490-9

N/A

0DataRank · unranked

47 citations

Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm +95 more

CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

EMBO Molecular Medicine(2021)10.15252/emmm.202114095

N/A

0DataRank · unranked

34 citations

Hannah K. Shorrock, Mónica Báñez-Coronel, Tao Zu, Lisa E. L. Romano, Lauren A. Laboissonniere +14 more

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2020.12.30.424813

N/A

0DataRank · unranked

3 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +39 more

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00212-2

N/A

0DataRank · unranked

0 citations

Laura Mackay, Keren Machol, Sundeep G. Keswani, Lorraine Potocki, Eleonora Di Gregorio +5 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 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

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

European Journal of Human Genetics(2023)10.1038/s41431-023-01451-4

N/A

0DataRank · unranked

8 citations

Xiaonan Zhao, Nichole Owen, Pamela N. Luna, Ida Vogel, Inger Lily Hjuler Dorf +27 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1

N/A

0DataRank · unranked

4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 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

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

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

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

N/A

0DataRank · unranked

6 citations

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

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

N/A

0DataRank · unranked

4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

European Journal of Human Genetics(2025)10.1038/s41431-025-01916-8

N/A

0DataRank · unranked

2 citations

Xiaonan Zhao, Nichole Owen, Tom Evans, Muriel Holder‐Espinasse, Nayana Lahiri +28 more

Impact of Elovl5 Deficiency on Cerebellar Excitatory Synaptic Transmission in Mice

Journal of Neuroscience(2025)10.1523/jneurosci.1529-24.2025

N/A

0DataRank · unranked

1 citations

Fangyuan Gao, Matilde Loddo, Jacek Miłek, Michalina Zawadzka, Maria Concetta Miniaci +7 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Alfredo Brusco

Indexed papers

Top data-sharing exemplar

Papers