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M. Malacarne · SciRah

Researcher profile · Semantic Scholar

M. Malacarne

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M. Malacarne — researcher profile on SciRah

h-index: 19
Works: 59
Citations: 1,127

Most-cited papers

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy
F. Madia, P. Striano, E. Gennaro, M. Malacarne +8 more
2006Neurology88 citations
Semantic Scholar
Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
D. Stewart, A. Huang, F. Faravelli, B. Anderlid +20 more
2004American Journal of Medical Genetics. Part A76 citations
Semantic Scholar
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.
M. Malacarne, E. Gennaro, F. Madia, S. Pozzi +18 more
2001American Journal of Human Genetics74 citations Open access
Semantic Scholar
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
P. Striano, A. Coppola, R. Paravidino, M. Malacarne +28 more
2012Archives of Neurology71 citations Open access
Semantic Scholar
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011
A. Novelli, F. Grati, L. Ballarati, Laura Bernardini +17 more
2012Ultrasound in Obstetrics and Gynecology68 citations Open access
Semantic Scholar
First-trimester euploid miscarriages analysed by array-CGH
C. Viaggi, S. Cavani, M. Malacarne, F. Floriddia +11 more
2013Journal of Applied Genetics59 citations
Semantic Scholar
6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases
M. Elia, P. Striano, M. Fichera, R. Gaggero +12 more
2006Epilepsia53 citations Open access
Semantic Scholar
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
P. Striano, M. Malacarne, S. Cavani, M. Pierluigi +12 more
2006American Journal of Medical Genetics. Part A48 citations
Semantic Scholar
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.
Federico Zara, E. Gennaro, M. Stabile, Ilaria Carbone +5 more
2000American Journal of Human Genetics48 citations Open access
Semantic Scholar
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
M. Piccione, E. Piro, F. Serraino, S. Cavani +6 more
2012European Journal of Medical Genetics44 citations
Semantic Scholar
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
M. Busè, Helenia C. Cuttaia, D. Palazzo, M. Mazara +5 more
2017Italian Journal of Pediatrics35 citations Open access
Semantic Scholar
14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
M. Piccione, G. Serra, V. Consiglio, A. Di Fiore +6 more
2012American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
M. Piccione, D. Vecchio, S. Cavani, M. Malacarne +2 more
2011American Journal of Medical Genetics. Part A31 citations
Semantic Scholar
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
G. Mandrile, A. Dubois, Jodi D. Hoffman, V. Uliana +8 more
2013European Journal of Medical Genetics26 citations Open access
Semantic Scholar
No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12‐q13.1
E. Gennaro, M. Malacarne, I. Carbone, M. C. Riggio +14 more
1999Epilepsia25 citations Open access
Semantic Scholar
Perlman syndrome: Clinical report and nine‐year follow‐up
M. Piccione, M. Cecconi, M. Giuffré, M. Curto +4 more
2005American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Lack of SCN1A Mutations in Familial Febrile Seizures
M. Malacarne, F. Madia, E. Gennaro, Daniela Vacca +18 more
2002Epilepsia23 citations Open access
Semantic Scholar
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment
A. Cocchella, M. Malacarne, F. Forzano, C. Marciano +4 more
2010American Journal of Medical Genetics Part B: Neuropsychiatric Genetics22 citations
Semantic Scholar
19q13 microdeletion syndrome: Further refining the critical region.
F. Forzano, F. Napoli, V. Uliana, M. Malacarne +7 more
2012European Journal of Medical Genetics19 citations
Semantic Scholar
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Ilaria Catusi, M. Garzo, A. Capra, S. Briuglia +13 more
2021Genes18 citations Open access
Semantic Scholar
Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation
G. Corsello, E. Salzano, D. Vecchio, Vincenzo Antona +6 more
2015American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
M. Piccione, R. Antona, E. Salzano, S. Cavani +5 more
2012American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
C. Viaggi, S. Cavani, M. Pierluigi, Vincenzo Antona +5 more
2012Journal of Applied Genetics14 citations
Semantic Scholar
Pure segmental trisomy 1q42‐qter in a boy with a severe phenotype
A. Percesepe, L. Lugli, M. Pierluigi, S. Cavani +4 more
2007American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
HMGA2 overexpression in polycythemia vera with t(12;21)(q14;q22).
S. Aliano, G. Cirmena, A. Garuti, G. Fugazza +5 more
2007Cancer Genetics and Cytogenetics13 citations
Semantic Scholar
Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations
S. Cavani, C. Perfumo, F. Faravelli, M. Malacarne +6 more
2003Prenatal Diagnosis12 citations
Semantic Scholar
High-Throughput Gene and Protein Analysis Revealed the Response of Disc Cells to Vitamin D, Depending on the VDR FokI Variants
A. Colombini, P. De Luca, Davide Cangelosi, Carlotta Perucca Orfei +7 more
2021International Journal of Molecular Sciences11 citations Open access
Semantic Scholar
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
F. Grati, I. Bestetti, Daria De Siero, F. Malvestiti +72 more
2022Prenatal Diagnosis10 citations Open access
Semantic Scholar
Children and adults affected by Cri du Chat syndrome: Care's recommendations
M. Liverani, Alice Spano, C. Danesino, M. Malacarne +3 more
2019Pediatric Reports10 citations Open access
Semantic Scholar
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother
S. Cavani, P. Prontera, M. Grasso, C. Ardisia +6 more
2011American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods
A. Guala, M. Spunton, Fabio Tognon, M. Pedrinazzi +7 more
2016TheScientificWorldJournal9 citations Open access
Semantic Scholar
Array CGH defined interstitial deletion on chromosome 14: a new case
M. Piccione, Vincenzo Antona, V. Scavone, M. Malacarne +3 more
2010European Journal of Pediatrics9 citations
Semantic Scholar
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
I. Maini, Ivan Ivanovski, O. Djuric, S. Caraffi +13 more
2018Italian Journal of Pediatrics8 citations Open access
Semantic Scholar
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay
L. Lugli, M. Malacarne, S. Cavani, M. Pierluigi +2 more
2011Journal of Applied Genetics8 citations Open access
Semantic Scholar
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
Loredana Poeta, M. Malacarne, Agnese Padula, Denise Drongitis +9 more
2022International Journal of Molecular Sciences7 citations Open access
Semantic Scholar
1p31.1 microdeletion including only NEGR1 gene in two patients.
E. Tassano, S. Uccella, Thea Giacomini, Patrizia Fiorio +5 more
2020European Journal of Medical Genetics7 citations
Semantic Scholar
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
Ilaria Catusi, Maria Paola Recalcati, I. Bestetti, M. Garzo +36 more
2019Molecular Genetics & Genomic Medicine7 citations Open access
Semantic Scholar
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation
F. Lantieri, M. Malacarne, S. Gimelli, G. Santamaria +2 more
2017International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.
M. Piccione, E. Salzano, D. Vecchio, D. Ferrara +4 more
2015European journal of paediatric neurology6 citations
Semantic Scholar
Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations
D. Milani, C. Sabatini, F. Manzoni, Paola Francesca Ajmone +5 more
2015Congenital Anomalies6 citations Open access
Semantic Scholar
Array‐CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features
M. Piccione, Vincenzo Antona, R. Antona, G. Gambino +4 more
2010American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
10qter deletion: A new case
M. Piccione, Vincenzo Antona, E. Piro, S. Cavani +3 more
2008American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
M. Vinciguerra, F. Leto, F. Cassarà, Viviana Tartaglia +10 more
2022Life5 citations Open access
Semantic Scholar
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease
F. Lantieri, S. Gimelli, C. Viaggi, E. Stathaki +8 more
2019Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
M. Piccione, C. Sanfilippo, S. Cavani, Patrizia Salatiello +5 more
2011Journal Genetika5 citations Open access
Semantic Scholar
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
F. Mercadante, M. Busè, E. Salzano, T. Fragapane +3 more
2020Italian Journal of Pediatrics4 citations Open access
Semantic Scholar
Brachydactyly type E in an Italian family with 6p25 trisomy.
Paolo Fontana, C. Tortora, Roberta Petillo, M. Malacarne +5 more
2017European Journal of Medical Genetics4 citations
Semantic Scholar
The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome
L. Papetti, Livia Schettini, Giacomo Garone, E. Gennaro +3 more
2016American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature
E. Tassano, S. Uccella, M. Severino, Thea Giacomini +6 more
2021Journal Genetika3 citations
Semantic Scholar
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements
M. Pittalis, A. Mattarozzi, Cristina Menozzi, M. Malacarne +5 more
2013American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar

Frequent co-authors

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S. Cavani×19
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S. Cavani — researcher profile on SciRah
M. Pierluigi×18
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M. Pierluigi — researcher profile on SciRah
M. Piccione×16
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M. Piccione — researcher profile on SciRah
G. Corsello×12
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G. Corsello — researcher profile on SciRah

×11

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D. Coviello — researcher profile on SciRah

F. Faravelli×7

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F. Faravelli — researcher profile on SciRah

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F. Zara — researcher profile on SciRah

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E. Salzano — researcher profile on SciRah

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C. Viaggi — researcher profile on SciRah

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E. Piro — researcher profile on SciRah

Vincenzo Antona×5

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Vincenzo Antona — researcher profile on SciRah

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P. Striano — researcher profile on SciRah