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S. Calandra · SciRah

Researcher profile · Semantic Scholar

S. Calandra

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S. Calandra — researcher profile on SciRah

h-index: 44
Works: 297
Citations: 7,162

Most-cited papers

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
Ž. Reiner, O. Guardamagna, D. Nair, H. Soran +8 more
2014Atherosclerosis286 citations Open access
Semantic Scholar
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
S. Bertolini, L. Pisciotta, C. Rabacchi, A. Cefalù +6 more
2013Atherosclerosis144 citations Open access
Semantic Scholar
Functional Lecithin: Cholesterol Acyltransferase Is Not Required for Efficient Atheroprotection in Humans
L. Calabresi, D. Baldassarre, S. Castelnuovo, P. Conca +15 more
2009Circulation136 citations Open access
Semantic Scholar
Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-of-Function Mutations of ANGPTL3
L. Pisciotta, E. Favari, L. Magnolo, Sara Simonelli +11 more
2012Circulation: Cardiovascular Genetics132 citations Open access
Semantic Scholar
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
M. Futema, V. Plagnol, Ka-Wah Li, Ros A. Whittall +15 more
2014Journal of Medical Genetics113 citations Open access
Semantic Scholar
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk
S. Calandra, P. Tarugi, H. Speedy, A. Dean +2 more
2011Journal of Lipid Research87 citations Open access
Semantic Scholar
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
A. Pirillo, K. Garlaschelli, M. Arca, M. Averna +100 more
2017Atherosclerosis Supplements79 citations Open access
Semantic Scholar
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
O. Guardamagna, G. Restagno, E. Rolfo, C. Pederiva +7 more
2009Jornal de Pediatria77 citations Open access
Semantic Scholar
The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.
R. Fellin, M. Arca, G. Zuliani, S. Calandra +1 more
2015Gene73 citations
Semantic Scholar
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
L. Pisciotta, R. Fresa, A. Bellocchio, E. Pino +5 more
2009Molecular Genetics and Metabolism73 citations Open access
Semantic Scholar
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN).
M. Averna, A. Cefalù, M. Casula, D. Noto +100 more
2017Atherosclerosis Supplements72 citations Open access
Semantic Scholar
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
T. Fasano, L. Pisciotta, L. Bocchi, O. Guardamagna +6 more
2012Molecular Genetics and Metabolism71 citations
Semantic Scholar
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
C. Rabacchi, L. Pisciotta, A. Cefalù, D. Noto +5 more
2015Atherosclerosis70 citations Open access
Semantic Scholar
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study.
M. Casula, E. Olmastroni, A. Pirillo, A. Catapano +102 more
2018Atherosclerosis69 citations Open access
Semantic Scholar
Preemptive liver transplantation in a child with familial hypercholesterolemia
A. Maiorana, V. Nobili, S. Calandra, P. Francalanci +7 more
2010Pediatric Transplantation66 citations Open access
Semantic Scholar
Genetic disorders of HDL metabolism : from model to mechanism
C. Candini, A. Schimmel, Jorge Peter, A. Bochem +14 more
201360 citations
Semantic Scholar
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]
I. Minicocci, S. Santini, V. Cantisani, N. Stitziel +17 more
2013Journal of Lipid Research60 citations Open access
Semantic Scholar
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations
T. Fancello, A. Dardis, C. Rosano, P. Tarugi +11 more
2009Neurogenetics53 citations Open access
Semantic Scholar
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study.
Kanika I. Dharmayat, A. Vallejo-Vaz, Christophe A. T. Stevens, J. Brandts +481 more
2023The Lancet52 citations Open access
Semantic Scholar
Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia
P. Tarugi, S. Bertolini, S. Calandra
2019Journal of Biomedical Research34 citations Open access
Semantic Scholar
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
L. Magnolo, M. Najah, T. Fancello, E. Di Leo +6 more
2013Gene34 citations Open access
Semantic Scholar
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
T. Fasano, P. Zanoni, C. Rabacchi, L. Pisciotta +16 more
2012Molecular Genetics and Metabolism34 citations Open access
Semantic Scholar
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.
S. Bertolini, S. Calandra, M. Arca, M. Averna +26 more
2020Atherosclerosis32 citations Open access
Semantic Scholar
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred.
L. Calabresi, P. Nilsson, E. Pinotti, M. Gomaraschi +7 more
2009Atherosclerosis32 citations Open access
Semantic Scholar
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.
M. Ariza, P. Martínez-Hernández, D. Ibarretxe, C. Rabacchi +7 more
2016Journal of Clinical Lipidology31 citations Open access
Semantic Scholar
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.
P. Buonuomo, A. Bartuli, C. Rabacchi, S. Bertolini +1 more
2015Journal of Clinical Lipidology30 citations Open access
Semantic Scholar
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
P. Buonuomo, L. Iughetti, L. Pisciotta, C. Rabacchi +7 more
2017Atherosclerosis28 citations Open access
Semantic Scholar
Severe HDL deficiency due to novel defects in the ABCA1 transporter
L. Pisciotta, L. Bocchi, C. Candini, R. Sallo +11 more
2009Journal of Internal Medicine28 citations Open access
Semantic Scholar
Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.
L. Pugni, E. Riva, C. Pietrasanta, C. Rabacchi +4 more
2013JIMD Reports25 citations Open access
Semantic Scholar
Transplantation of allogeneic bone marrow mesenchymal stromal cell-derived hepatocyte-like cells in homozygous familial hypercholesterolemia.
M. Mohamadnejad, Behshad Pournasr, M. Bagheri, N. Aghdami +9 more
2010Cytotherapy25 citations
Semantic Scholar
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
L. Pisciotta, G. Tozzi, L. Travaglini, R. Taurisano +13 more
2017Atherosclerosis23 citations
Semantic Scholar
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.
C. Rabacchi, S. D'Addato, S. Palmisano, T. Lucchi +3 more
2016Journal of Clinical Lipidology23 citations Open access
Semantic Scholar
Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.
L. Pisciotta, R. Sallo, Claudio Rabacchi, A. Wunsch +2 more
2012NMCD. Nutrition Metabolism and Cardiovascular Diseases23 citations Open access
Semantic Scholar
The study of familial hypercholesterolemia in Italy: A narrative review.
S. Bertolini, L. Pisciotta, T. Fasano, C. Rabacchi +1 more
2017Atherosclerosis Supplements21 citations Open access
Semantic Scholar
Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.
L. Pisciotta, R. Fresa, A. Bellocchio, V. Guido +3 more
2011Clinica chimica acta; international journal of clinical chemistry21 citations Open access
Semantic Scholar
Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia
E. Olmastroni, M. Gazzotti, M. Averna, M. Arca +5 more
2023Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease20 citations Open access
Semantic Scholar
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
A. Sechi, A. Dardis, Stefania Zampieri, C. Rabacchi +8 more
2014Orphanet Journal of Rare Diseases20 citations Open access
Semantic Scholar
Twelve Variants Polygenic Score for Low‐Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
E. Olmastroni, M. Gazzotti, M. Arca, M. Averna +98 more
2022Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease19 citations Open access
Semantic Scholar
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach
J. Versmissen, D. Oosterveer, M. Yazdanpanah, A. Dehghan +44 more
2014European Journal of Human Genetics17 citations Open access
Semantic Scholar
Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA).
P. Tarugi, S. Bertolini, S. Calandra, Marcello Arca +10 more
2024NMCD. Nutrition Metabolism and Cardiovascular Diseases16 citations
Semantic Scholar
Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.
L. Pisciotta, P. Tarugi, C. Borrini, A. Bellocchio +6 more
2010Atherosclerosis16 citations Open access
Semantic Scholar
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease.
L. Bocchi, L. Pisciotta, T. Fasano, C. Candini +4 more
2010Clinica chimica acta; international journal of clinical chemistry15 citations Open access
Semantic Scholar
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
E. Di Leo, L. Magnolo, E. Pinotti, S. Martini +8 more
2009Molecular Genetics and Metabolism15 citations Open access
Semantic Scholar
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
L. D'Erasmo, Simone Bini, M. Casula, M. Gazzotti +8 more
2024European Journal of Preventive Cardiology14 citations Open access
Semantic Scholar
A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region.
M. Marino, C. Rabacchi, M. L. Simone, Veronica Medici +2 more
2009Clinica chimica acta; international journal of clinical chemistry14 citations Open access
Semantic Scholar
Lipoprotein Glomerulopathy Associated with a Mutation in Apolipoprotein E
R. Magistroni, M. Bertolotti, L. Furci, R. Fano +6 more
2013Clinical Medicine Insights: Case Reports13 citations Open access
Semantic Scholar
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study.
Amany Elshorbagy, A. R. Lyons, A. Vallejo-Vaz, Christophe A. T. Stevens +496 more
2024The Lancet Diabetes and Endocrinology12 citations Open access
Semantic Scholar
Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
P. Buonuomo, C. Rabacchi, M. Macchiaiolo, C. Trenti +5 more
2017Journal of Clinical Lipidology12 citations Open access
Semantic Scholar
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
C. Rabacchi, F. Bigazzi, M. Puntoni, F. Sbrana +4 more
2016Journal of Clinical Lipidology12 citations Open access
Semantic Scholar
Altered mRNA splicing in lipoprotein disorders
S. Calandra, P. Tarugi, S. Bertolini
2011Current Opinion in Lipidology12 citations Open access
Semantic Scholar

Frequent co-authors

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S. Bertolini — researcher profile on SciRah
L. Pisciotta×24
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L. Pisciotta — researcher profile on SciRah
P. Tarugi×24
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P. Tarugi — researcher profile on SciRah
C. Rabacchi×16
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C. Rabacchi — researcher profile on SciRah

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A. Bartuli — researcher profile on SciRah

O. Guardamagna×9

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O. Guardamagna — researcher profile on SciRah

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A. Cefalù — researcher profile on SciRah

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T. Fasano — researcher profile on SciRah

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M. Arca — researcher profile on SciRah

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P. Buonuomo — researcher profile on SciRah

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M. Averna — researcher profile on SciRah

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C. Pederiva — researcher profile on SciRah