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A. Micalizzi · SciRah

Researcher profile · Semantic Scholar

A. Micalizzi

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A. Micalizzi — researcher profile on SciRah

h-index: 17
Works: 45
Citations: 1,330

Most-cited papers

Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”
M. Romani, A. Micalizzi, E. Valente
2013Lancet Neurology355 citations Open access
Semantic Scholar
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
S. Thomas, K. J. Wright, S. L. Le Corre, A. Micalizzi +24 more
2014Human Mutation124 citations Open access
Semantic Scholar
Trans-ethnic Study Design Approaches for Fine-Mapping
A. Micalizzi, A. Poretti, M. Romani, M. Ginevrino +26 more
2016European Journal of Human Genetics88 citations Open access
Semantic Scholar
Brain-heart crosstalk: the many faces of stress-related cardiomyopathy syndromes in anaesthesia and intensive care.
A. Mazzeo, A. Micalizzi, L. Mascia, A. Scicolone +1 more
2014British Journal of Anaesthesia84 citations Open access
Semantic Scholar
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
S. Roosing, M. Romani, M. Isrie, R. O. Rosti +20 more
2016Journal of Medical Genetics61 citations Open access
Semantic Scholar
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
M. Romani, A. Micalizzi, I. Kraoua, M. Dotti +13 more
2014Orphanet Journal of Rare Diseases61 citations Open access
Semantic Scholar
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Roberta De Mori, M. Romani, S. D'Arrigo, M. Zaki +26 more
2017American Journal of Human Genetics53 citations Open access
Semantic Scholar
Age and sex prevalence estimate of Joubert syndrome in Italy
S. Nuovo, I. Bacigalupo, M. Ginevrino, R. Battini +10 more
2020Neurology37 citations Open access
Semantic Scholar
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
M. Romani, F. Mancini, A. Micalizzi, A. Poretti +29 more
2014Human Genetics37 citations Open access
Semantic Scholar
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
R. Romaniello, F. Arrigoni, E. Panzeri, A. Poretti +21 more
2017European Radiology35 citations
Semantic Scholar
A clinical diagnostic algorithm for early onset cerebellar ataxia.
R. Brandsma, C. Verschuuren-Bemelmans, D. Amrom, Nina Barišić +30 more
2019European journal of paediatric neurology34 citations Open access
Semantic Scholar
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
C. Bonnard, M. Shboul, S. Tonekaboni, A. Y. Ng +20 more
2018European Journal of Medical Genetics34 citations
Semantic Scholar
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, L. Zachariassen, Jiahui Sun +83 more
2023Brain : a journal of neurology32 citations Open access
Semantic Scholar
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.
M. Trivisano, M. Santarone, A. Micalizzi, A. Ferretti +4 more
2020Seizure30 citations Open access
Semantic Scholar
Infantile and childhood onset PLA2G6‐associated neurodegeneration in a large North African cohort
M. Romani, I. Kraoua, A. Micalizzi, H. Klaa +7 more
2015European Journal of Neurology30 citations
Semantic Scholar
A novel IRF2BPL truncating variant is associated with endolysosomal storage
M. Ginevrino, R. Battini, S. Nuovo, A. Simonati +4 more
2019Molecular Biology Reports24 citations
Semantic Scholar
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype
S. Nuovo, A. Micalizzi, S. D'Arrigo, M. Ginevrino +3 more
2018European Journal of Human Genetics20 citations Open access
Semantic Scholar
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
S. Nuovo, A. Micalizzi, R. Romaniello, F. Arrigoni +31 more
2021Journal of Medical Genetics17 citations
Semantic Scholar
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome
S. Nuovo, L. Fuiano, A. Micalizzi, R. Battini +16 more
2018Nephrology, Dialysis and Transplantation17 citations Open access
Semantic Scholar
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Mattia Vicario, Tito Calì, Domenico Cieri, F. Vallese +12 more
2017Biochimica et Biophysica Acta - Molecular Basis of Disease16 citations Open access
Semantic Scholar
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
M. Trivisano, Angela de Dominicis, A. Micalizzi, A. Ferretti +7 more
2022Seizure15 citations Open access
Semantic Scholar
Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance
S. Nuovo, V. Baglioni, Roberta De Mori, Silvia Tardivo +18 more
2021Human Mutation14 citations Open access
Semantic Scholar
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
Roberta De Mori, M. Severino, M. Mancardi, D. Anello +18 more
2019Brain : a journal of neurology14 citations Open access
Semantic Scholar
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
Marco Ferilli, A. Ciolfi, L. Pedace, M. Niceta +26 more
2022Genes13 citations Open access
Semantic Scholar
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes
E. Flex, S. Albadri, F. Radio, S. Cecchetti +27 more
2022Human Molecular Genetics12 citations Open access
Semantic Scholar
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study
E. Mormina, M. Briguglio, R. Morabito, A. Arrigo +8 more
2015Brain Imaging and Behavior12 citations
Semantic Scholar
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness
L. Sinibaldi, Giacomo Garone, A. Mandarino, G. Iarossi +21 more
2023Clinical Genetics10 citations Open access
Semantic Scholar
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
M. Bainbridge, Aloran Mazumder, Daisuke Ogasawara, R. Abou Jamra +30 more
2022Brain : a journal of neurology10 citations Open access
Semantic Scholar
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, T. Biagini +24 more
2023Journal of Medical Genetics9 citations Open access
Semantic Scholar
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation
A. Micalizzi, I. Moroni, M. Ginevrino, T. Biagini +3 more
2016Neurogenetics7 citations
Semantic Scholar
Molecular Genetics of Joubert Syndrome
F. Mancini, M. Romani, A. Micalizzi, E. Valente
20145 citations
Semantic Scholar
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
M. Trivisano, Angela de Dominicis, Fabrizia Stregapede, Chiara Quintavalle +9 more
2023Epilepsy & Behavior4 citations
Semantic Scholar
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism
A. Lombardo, L. Sinibaldi, S. Genovese, G. Catino +17 more
2024International Journal of Molecular Sciences3 citations Open access
Semantic Scholar
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
G. Calcagni, Federica Ferrigno, A. Franceschini, M. Dentici +16 more
2024Diagnostics3 citations Open access
Semantic Scholar
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor
L. Sinibaldi, A. Micalizzi, A. Serra, A. Crocoli +7 more
2022European Journal of Human Genetics3 citations Open access
Semantic Scholar
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
Gianluca Contrò, A. Micalizzi, S. Giangiobbe, S. Caraffi +17 more
2021Genes3 citations Open access
Semantic Scholar
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
R. Romaniello, F. Arrigoni, E. Panzeri, A. Poretti +21 more
2017European Radiology2 citations Open access
Semantic Scholar
Novel Genetic Variant in HUWE1
M. Tortora, Elisa Cattaneo, L. Spaccini, M. Iascone +7 more
2024Neurology: Genetics1 citations Open access
Semantic Scholar
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features
Chiara Minotti, L. Graziani, A. Micalizzi, M. Dentici +7 more
2024Molecular Syndromology1 citations Open access
Semantic Scholar
A patient with mosaic USP9X gene variant.
Valeria Barili, A. Dall'asta, V. Uliana, G. Schera +8 more
2022European Journal of Medical Genetics1 citations
Semantic Scholar
Genetic characterization of suspected hereditary melanoma in a Central Italy cohort
Rosa Falcone, G. L. Scaglione, G. Mastrogiorgio, S. Verkhovskaia +11 more
2026Molecular Medicine0 citations Open access
Semantic Scholar
Culprit or innocent bystander? The case of a new fast-moving hemoglobin J variant in a pregnant woman.
Ilaria Cerroni, Valeria Renola, A. Micalizzi, Ester Romanelli +15 more
2025Blood Cells, Molecules & Diseases0 citations
Semantic Scholar
A novel in-frame deletion of OPHN1 in a family with syndromic X-linked mental retardation
V. Brankovic, S. Nuovo, A. Zekavica, A. Micalizzi +2 more
20170 citations
Semantic Scholar
Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation
A. Poretti, F. Mancini, M. Romani, A. Micalizzi +5 more
20150 citations
Semantic Scholar
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
M. Romani, F. Mancini, A. Micalizzi, A. Poretti +29 more
2014Human Genetics0 citations Open access
Semantic Scholar

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E. Valente×27
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E. Valente — researcher profile on SciRah
M. Romani×13
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M. Romani — researcher profile on SciRah
T. Mazza×11
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S. Nuovo×11
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S. D'Arrigo — researcher profile on SciRah

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R. Romaniello×9

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