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M. Baldassarri · SciRah

Researcher profile · Semantic Scholar

M. Baldassarri

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M. Baldassarri — researcher profile on SciRah

h-index: 23
Works: 81
Citations: 1,674

Most-cited papers

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E. Benetti, R. Tita, O. Spiga, A. Ciolfi +134 more
2020European Journal of Human Genetics205 citations Open access
Semantic Scholar
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
C. Fallerini, S. Daga, S. Mantovani, E. Benetti +144 more
2021eLife155 citations Open access
Semantic Scholar
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
P. Peterlongo, Irene Catucci, M. Colombo, Laura Caleca +92 more
2015Human Molecular Genetics92 citations Open access
Semantic Scholar
Alport syndrome: impact of digenic inheritance in patients management
C. Fallerini, M. Baldassarri, Eva Trevisson, Valeria Morbidoni +12 more
2017Clinical Genetics66 citations Open access
Semantic Scholar
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Vittoria Disciglio, C. L. Rizzo, M. Mencarelli, M. Mucciolo +23 more
2014American Journal of Medical Genetics. Part A65 citations
Semantic Scholar
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
S. Mantovani, S. Daga, C. Fallerini, M. Baldassarri +189 more
2021Genes and Immunity61 citations Open access
Semantic Scholar
Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing
Elisa Grillo, Caterina Lo Rizzo, L. Bianciardi, V. Bizzarri +14 more
2013PLoS ONE60 citations Open access
Semantic Scholar
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
M. Baldassarri, Nicola Picchiotti, F. Fava, C. Fallerini +145 more
2021EBioMedicine53 citations Open access
Semantic Scholar
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women
M. Monticelli, B. H. Mele, E. Benetti, C. Fallerini +8 more
2021Genes50 citations Open access
Semantic Scholar
Pathogen-sugar interactions revealed by universal saturation transfer analysis
Charles J. Buchanan, Ben Gaunt, P. J. Harrison, Yun Yang +36 more
2022Science49 citations Open access
Semantic Scholar
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
S. Daga, Francesco Donati, Katia Capitani, S. Croci +13 more
2019European Journal of Human Genetics49 citations Open access
Semantic Scholar
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males
S. Croci, M. Venneri, S. Mantovani, C. Fallerini +29 more
2021medRxiv44 citations Open access
Semantic Scholar
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
L. Bruno, Gabriella Doddato, F. Valentino, M. Baldassarri +18 more
2021International Journal of Molecular Sciences44 citations Open access
Semantic Scholar
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
F. Mari, A. Marozza, M. Mencarelli, Caterina Lo Rizzo +22 more
2015Brain & development (Tokyo. 1979)42 citations Open access
Semantic Scholar
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research
S. Daga, C. Fallerini, M. Baldassarri, F. Fava +23 more
2021European Journal of Human Genetics39 citations Open access
Semantic Scholar
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients.
A. Renieri, M. Mencarelli, F. Cetta, M. Baldassarri +6 more
2014Lung Cancer35 citations
Semantic Scholar
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
F. Valentino, L. Bruno, Gabriella Doddato, Annarita Giliberti +17 more
2021Brain Science34 citations Open access
Semantic Scholar
The 2019 and 2021 International Workshops on Alport Syndrome
S. Daga, Jie Ding, C. Deltas, J. Savige +22 more
2022European Journal of Human Genetics32 citations Open access
Semantic Scholar
Clinical and molecular characterization of COVID-19 hospitalized patients
E. Benetti, Annarita Giliberti, Arianna Emiliozzi, F. Valentino +19 more
2020medRxiv32 citations Open access
Semantic Scholar
Natural history of KBG syndrome in a large European cohort
L. Loberti, L. Bruno, Stefania Granata, Gabriella Doddato +55 more
2022Human Molecular Genetics30 citations Open access
Semantic Scholar
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants
M. Baldassarri, F. Fava, C. Fallerini, S. Daga +21 more
2021Journal of Personalized Medicine24 citations Open access
Semantic Scholar
Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome
S. Daga, M. Baldassarri, Caterina Lo Rizzo, C. Fallerini +12 more
2018Human Mutation24 citations Open access
Semantic Scholar
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
Elisa Gelli, M. Colombo, A. Pinto, G. De Vecchi +17 more
2019Cancers23 citations Open access
Semantic Scholar
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
C. Fallerini, Nicola Picchiotti, M. Baldassarri, K. Zguro +38 more
2021medRxiv22 citations Open access
Semantic Scholar
Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine
M. Baldassarri, C. Fallerini, F. Cetta, M. Ghisalberti +9 more
2017Cancer research and treatment : official journal of Korean Cancer Association21 citations Open access
Semantic Scholar
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males
S. Stanelle-Bertram, Sebastian Beck, Nancy Kouassi Mounogou, B. Schaumburg +53 more
2023Cell Reports Medicine18 citations Open access
Semantic Scholar
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19
Ticiana D. J. Farias, Silvia Brugiapaglia, S. Croci, P. Magistroni +20 more
2023HLA18 citations Open access
Semantic Scholar
Post-Mendelian genetic model in COVID-19
A. Renieri, N. Picchiotti, E. Benetti, C. Fallerini +28 more
2021medRxiv18 citations Open access
Semantic Scholar
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome
M. Palmieri, A. Pinto, L. di Blasio, Aurora Curró +12 more
2020Vascular18 citations
Semantic Scholar
SELP Asp603Asn and severe thrombosis in COVID-19 males
C. Fallerini, S. Daga, E. Benetti, Nicola Picchiotti +19 more
2021Journal of Hematology & Oncology14 citations Open access
Semantic Scholar
CKAP2L mutation confirms the diagnosis of Filippi syndrome
G. Capecchi, M. Baldassarri, S. Ferranti, E. Guidoni +5 more
2018Clinical Genetics14 citations
Semantic Scholar
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age
I. Zanella, Eliana Zacchi, S. Piva, M. Filosto +10 more
2021International Journal of Molecular Sciences13 citations Open access
Semantic Scholar
Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients
M. Palmieri, M. Baldassarri, F. Fava, Alessandra Fabbiani +18 more
2020Cancer Medicine13 citations Open access
Semantic Scholar
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in males.
M. Baldassarri, Nicola Picchiotti, F. Fava, C. Fallerini +37 more
2020medRxiv13 citations Open access
Semantic Scholar
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features
M. Bidart, Michèle El Atifi, Sarra Miladi, J. Rendu +17 more
2016Genetics in Medicine13 citations Open access
Semantic Scholar
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder
L. Bergantini, M. Baldassarri, M. d'Alessandro, G. Brunelli +194 more
2023Respiratory Research11 citations Open access
Semantic Scholar
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
M. Baldassarri, K. Zguro, Valeria Tomati, C. Pastorino +9 more
2022Cells11 citations Open access
Semantic Scholar
Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes
Gabriella Doddato, F. Valentino, Annarita Giliberti, F. T. Papa +22 more
2021Frontiers in Oncology11 citations Open access
Semantic Scholar
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified by cfDNA NGS-liquid biopsy.
M. Palmieri, L. Di Sarno, A. Tommasi, Aurora Curró +9 more
2020Journal of Vascular Surgery: Venous and Lymphatic Disorders9 citations Open access
Semantic Scholar
An explainable model of host genetic interactions linked to COVID-19 severity
A. Onoja, Nicola Picchiotti, C. Fallerini, M. Baldassarri +198 more
2022Communications Biology8 citations Open access
Semantic Scholar
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay
Flavia Privitera, Arianna Calonaci, Gabriella Doddato, F. T. Papa +10 more
2021Genes8 citations Open access
Semantic Scholar
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males
C. Fallerini, S. Daga, S. Mantovani, E. Benetti +20 more
2020medRxiv8 citations Open access
Semantic Scholar
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy
F. T. Papa, M. Mancardi, E. Frullanti, C. Fallerini +7 more
2017Clinical Dysmorphology8 citations
Semantic Scholar
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response
Martina Esposito, Francesca Minnai, M. Copetti, G. Miscio +21 more
2024Communications Medicine7 citations Open access
Semantic Scholar
A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families
Mucciolo Mafalda, C. Di Marco, R. Canitano, S. Buoni +11 more
20167 citations Open access
Semantic Scholar
AUTS2-related Syndrome: Insights from a large European cohort.
L. Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima +71 more
2025Genetics in Medicine6 citations Open access
Semantic Scholar
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).
L. A. Hendricks, Katja C. J. Verbeek, J. Schuurs-Hoeijmakers, M. D. de Jong +46 more
2025Genetics in Medicine6 citations Open access
Semantic Scholar
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death
Francesca Minnai, Filippo Biscarini, Martina Esposito, T. A. Dragani +211 more
2024Scientific Reports6 citations Open access
Semantic Scholar
Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects
B. Hofmeister, C. von Stülpnagel, C. Betzler, F. Mari +10 more
2021Neuropediatrics6 citations
Semantic Scholar
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation
A. Pinto, S. Daga, C. Fallerini, M. Bruttini +6 more
2019Transplantation6 citations
Semantic Scholar

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