Maria Francesca Bedeschi

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Also affiliated with Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, Istituti di Ricovero e Cura a Carattere Scientifico, University of Bologna

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 6 papers. Top paper: “Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder”.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

medRxiv(2022)10.1101/2022.09.21.22280107

N/A

0DataRank · unranked

0 citations

Charles J. Billington, Niranjan Raja, Zoë C. Wong, Mark Levin, Wolfgang Resch +20 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0DataRank · unranked

25 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome

Journal of the American Heart Association(2024)10.1161/jaha.123.031377

N/A

0DataRank · unranked

2 citations

Charles J. Billington, Neelam Raja, Zoë C. Wong, Mark Levin, Wolfgang Resch +20 more

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

medRxiv(2024)10.1101/2024.09.17.24313555

N/A

0DataRank · unranked

0 citations

Carolyn Β. Mervis, Mark Levin, Elisa Biamino, Maria Francesca Bedeschi, M. Cristina Digilio +11 more