Marco Tartaglia

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 21 papers. Top paper: “Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients”.

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

0.691DataRank · unranked

99 citations

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

Brain malformations and seizures by impaired chaperonin function of TRiC

Science(2024)10.1126/science.adp8721

N/A

0.489DataRank · unranked

25 citations

Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil K. Zajt, Dimah Hasan +82 more

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

Frontiers in Neurology(2023)10.3389/fneur.2023.1090082

N/A

0.269DataRank · unranked

5 citations

Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante +6 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

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

N/A

0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32012

N/A

0DataRank · unranked

97 citations

Yoko Aoki, Bruce D. Gelb, Marco Tartaglia

Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state

Developmental Cell(2022)10.1016/j.devcel.2022.06.005

N/A

0DataRank · unranked

85 citations

Christian F. Guerrero-Juarez, Fei Xiao, Nitish Udupi Shettigar, Raúl Ramos, Chen‐Hsiang Kuan +13 more

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62716

N/A

0DataRank · unranked

16 citations

Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Grégor Andelfinger +37 more

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32022

N/A

0DataRank · unranked

10 citations

Dante J. Rogers, Samuel J. Kroening, Abigail L Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts +10 more

The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

Frontiers in Molecular Neuroscience(2023)10.3389/fnmol.2023.1170061

N/A

0DataRank · unranked

5 citations

Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Federica Tosato +12 more

POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum

Clinical Genetics(2023)10.1111/cge.14353

N/A

0DataRank · unranked

6 citations

Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Faivre +38 more

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Genetics in Medicine(2020)10.1038/s41436-020-00973-2

N/A

0DataRank · unranked

42 citations

Nihir Patel, Madeline Lui, Arden Moscati, Ron Do, Douglas R. Stewart +6 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

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100349

N/A

0DataRank · unranked

8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63627

N/A

0DataRank · unranked

2 citations

Jennefer Carter, Luca Pannone, David A. Stevenson, Dorsa Moslehi, Serenella Venanzi +5 more

Interpreting the functional impact of genetic variants: The need for context qualifiers

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.11.007

N/A

0DataRank · unranked

3 citations

Hélène Cavé, Alessandro De Luca, Marina T. DiStefano, Rachel Karchin, Ana Clara Lugones +8 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 more

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

Parkinsonism & Related Disorders(2020)10.1016/j.parkreldis.2020.02.003

N/A

0DataRank · unranked

21 citations

Viviana Cordeddu, Serena Galosi, Ambra Lanzo, Eleonora Palma, Luca Pannone +28 more

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018

N/A

0DataRank · unranked

93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more