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Carlotta Pia Cristalli

Observed names: C P Cristalli, C.P. Cristalli, CRISTALLI, CARLOTTA PIA, Carlotta Cristalli, Carlotta P. Cristalli, Cristalli, Carlotta Pia
ORCID: 0000-0003-1428-8714
Observed ORCID: 0000-0003-1428-8714
OpenAlex ID: A5007515951
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families
2020 · Vilma Mantovani, Sofia Bin, et al. · Frontiers in Genetics · 48
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Pleiotropic genes in psychiatry: Calcium channels and the stress-related FKBP5 gene in antidepressant resistance
2017 · Chiara Fabbri, Filippo Corponi, et al. · Progress in Neuro-Psychopharmacology and Biological Psychiatry · 48
Identification of a serum and urine extracellular vesicle signature predicting renal outcome after kidney transplant
2022 · Jacopo Burrello, Silvia Monticone, et al. · Nephrology Dialysis Transplantation · 43
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Methylenetetrahydrofolate reductase, MTHFR, polymorphisms and predisposition to different multifactorial disorders
2017 · Carlotta Pia Cristalli, Chiara Zannini, et al. · Genes & Genomics · 14
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles
2023 · Enrico Ambrosini, Francesca Montanari, et al. · Genes · 11
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Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication
2024 · Constantin A. Wolff, Valeria Aiello, et al. · Clinical Journal of the American Society of Nephrology · 9
Genetic Variants Within Molecular Targets of Antipsychotic Treatment: Effects on Treatment Response, Schizophrenia Risk, and Psychopathological Features
2017 · Marco Calabrò, Stefano Porcelli, et al. · Journal of Molecular Neuroscience · 8
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients
2025 · Marco Fabiani, Caterina Micolonghi, et al. · European Journal of Human Genetics · 5
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort
2023 · Valeria Aiello, Francesca Ciurli, et al. · Genes · 4
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Low‐Level Mosaicism in Tuberous Sclerosis Complex ( TSC ): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review
2026 · Irene Ambrosetti, Carlotta Pia Cristalli, et al. · American Journal of Medical Genetics Part A · 3
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The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease
2025 · Matteo Righini, Cristiana Corsi, et al. · Journal of Nephrology · 3
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy
2025 · Samuela Carigi, Giulia Olivucci, et al. · International Journal of Cardiology · 2
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome
2016 · Giulio Maltoni, Raffaella Minardi, et al. · Diabetes Research and Clinical Practice · 2
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts
2025 · Carlotta Pia Cristalli, Sara Calabrese, et al. · Genes · 1
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice
2024 · Giovanni Innella, Emanuele Coccia, et al. · Clinical Genetics · 1
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Evaluation of the Predictive Ability and Concordance of Prognostic Scores for Rapid Progression in ADPKD: A Multicenter Cohort
2023 · Irene Capelli, Valeria Aiello, et al. · Journal of the American Society of Nephrology · 1
Pleiotropic genes in psychiatry: calcium channels and the stress-related FKBP5 gene in antidepressant resistance
2018 · F. Corponi, C. Fabbri, et al. · European Neuropsychopharmacology · 1
Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder
2026 · Irene Ambrosetti, Flavia Palombo, et al. · International Journal of Molecular Sciences
Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy
2026 · Carlotta Pia Cristalli, Maria Alessandra Schiavo, et al. · Genes
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Raw data
2025 · CRISTALLI, CARLOTTA PIA · Zenodo (CERN European Organization for Nuclear Research)
Raw data
2025 · CRISTALLI, CARLOTTA PIA · Zenodo (CERN European Organization for Nuclear Research)
Founder novel mutations in hypertrophic cardiomyopathy patients in Italy
2025 · N Fanciullo, M A Schiavo, et al. · European Heart Journal
#3648 Renal outcomes of kidney–liver transplantation and liver transplantation in autosomal dominant polycystic kidney disease patients
2025 · Sarah Lerario, Valeria Aiello, et al. · Nephrology Dialysis Transplantation
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Author response for "Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice"
2024 · Giovanni Innella, Emanuele Coccia, et al. · Publons reviews and discussion
Incompletely Penetrant Variants Underlie the Familial Variability in Disease Progression in Adults with ADPKD
2023 · Elhussein A. Elhassan, Katherine A. Benson, et al. · Journal of the American Society of Nephrology
Works count: 31
Citation count: 204
H-index: 7
I10-index: 5
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