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P. Magini · SciRah

Researcher profile · Semantic Scholar

P. Magini

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P. Magini — researcher profile on SciRah

h-index: 24
Works: 71
Citations: 2,444

Most-cited papers

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M. De Gregori, R. Ciccone, P. Magini, T. Pramparo +39 more
2007Journal of Medical Genetics285 citations Open access
Semantic Scholar
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Alberto Magi, Lorenzo Tattini, I. Cifola, R. D’Aurizio +13 more
2013Genome Biology241 citations Open access
Semantic Scholar
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
T. Pippucci, A. Savoia, S. Perrotta, N. Pujol-Moix +19 more
2011American Journal of Human Genetics212 citations Open access
Semantic Scholar
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
T. Harel, W. Yoon, C. Garone, Shen Gu +44 more
2016American Journal of Human Genetics184 citations Open access
Semantic Scholar
ANKRD26-related thrombocytopenia and myeloid malignancies.
P. Noris, R. Favier, M. Alessi, A. Geddis +25 more
2013Blood169 citations Open access
Semantic Scholar
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
A. Kuechler, A. M. Zink, T. Wieland, Hermann-Josef Lüdecke +22 more
2014European Journal of Human Genetics95 citations Open access
Semantic Scholar
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
V. Del Dotto, Farid Ullah, I. Di Meo, P. Magini +43 more
2019Journal of Clinical Investigation82 citations Open access
Semantic Scholar
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
R. Giorda, M. Bonaglia, S. Beri, M. Fichera +30 more
2009American Journal of Human Genetics77 citations Open access
Semantic Scholar
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia
P. Noris, N. Schlegel, C. Klersy, P. Heller +61 more
2014Haematologica76 citations Open access
Semantic Scholar
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
P. Magini, Daphne J. Smits, Laura V. Vandervore, R. Schot +48 more
2019American Journal of Human Genetics63 citations Open access
Semantic Scholar
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
A. Kashevarova, L. Nazarenko, Soren Schultz-Pedersen, N. Skryabin +10 more
2014Molecular Cytogenetics60 citations Open access
Semantic Scholar
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
T. Pippucci, A. Maresca, P. Magini, G. Cenacchi +16 more
2015EMBO Molecular Medicine59 citations Open access
Semantic Scholar
Long read sequencing on its way to the routine diagnostics of genetic diseases
Giulia Olivucci, Emanuela Iovino, G. Innella, D. Turchetti +2 more
2024Frontiers in Genetics56 citations Open access
Semantic Scholar
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
E. Bonora, C. Graziano, Fiorella Minopoli, E. Bacchelli +17 more
2014EMBO Molecular Medicine54 citations Open access
Semantic Scholar
Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations
P. Magini, M. Della Monica, M. L. Uzielli, P. Mongelli +4 more
2012American Journal of Medical Genetics. Part A49 citations
Semantic Scholar
Array CGH analysis of a cohort of Russian patients with intellectual disability.
A. Kashevarova, L. Nazarenko, N. Skryabin, O. Salyukova +8 more
2014Gene46 citations Open access
Semantic Scholar
From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
Gloria Negri, P. Magini, D. Milani, P. Colapietro +12 more
2016Human Mutation43 citations Open access
Semantic Scholar
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
P. Magini, T. Pippucci, I‐Chun Tsai, Simona Coppola +19 more
2014Human Molecular Genetics40 citations
Semantic Scholar
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
A. Wischmeijer, P. Magini, Roberto Giorda, M. Gnoli +7 more
2010Molecular Syndromology40 citations Open access
Semantic Scholar
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
Gloria Negri, P. Magini, D. Milani, M. Crippa +19 more
2019Human Genetics35 citations Open access
Semantic Scholar
EX-HOM (EXome HOMozygosity): A Proof of Principle
T. Pippucci, M. Benelli, Alberto Magi, P. Martelli +5 more
2011Human Heredity31 citations Open access
Semantic Scholar
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
Maria Chiara Pelleri, Elena Cicchini, M. Petersen, L. Tranebjærg +10 more
2019Molecular Genetics & Genomic Medicine29 citations Open access
Semantic Scholar
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism
E. Panza, D. Martinelli, P. Magini, Carlo Dionisi Vici +1 more
2019Frontiers in Neurology25 citations Open access
Semantic Scholar
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
L. Licchetta, T. Pippucci, F. Bisulli, G. Cantalupo +9 more
2013Epilepsia25 citations Open access
Semantic Scholar
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
Berardo Rinaldi, Alessandro Vaisfeld, S. Amarri, C. Baldo +11 more
2017Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Messenger RNA processing is altered in autosomal dominant leukodystrophy
A. Bartoletti-Stella, L. Gasparini, Caterina Giacomini, P. Corrado +9 more
2015Human Molecular Genetics23 citations Open access
Semantic Scholar
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.
C. Graziano, Simona Carone, E. Panza, F. Marino +4 more
2009Blood23 citations Open access
Semantic Scholar
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells
Cristina Bertulli, A. Marzollo, M. Doria, S. Di Cesare +12 more
2020International Journal of Molecular Sciences22 citations Open access
Semantic Scholar
New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer
Giulia Severi, L. Bernardini, S. Briuglia, S. Bigoni +11 more
2016American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Messenger RNA processing is altered in autosomal dominant leukodystrophy
A. Bartoletti-Stella, L. Gasparini, Caterina Giacomini, P. Corrado +9 more
2017Human Molecular Genetics18 citations Open access
Semantic Scholar
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
P. Magini, C. Marco-Marín, Juan M Escamilla-Honrubia, D. Martinelli +6 more
2019Annals of Clinical and Translational Neurology17 citations Open access
Semantic Scholar
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome
P. Magini, Flavia Palombo, S. Boito, G. Lanzoni +6 more
2016American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion
L. Pradella, R. Zuntini, P. Magini, C. Ceccarelli +5 more
2011Journal of Medical Genetics16 citations
Semantic Scholar
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
Maria Chiara Pelleri, C. Locatelli, T. Mattina, M. Bonaglia +11 more
2022BMC Medical Genomics14 citations Open access
Semantic Scholar
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
N. Hirsch, Idit Dahan, E. D'Haene, Matan Avni +12 more
2021bioRxiv14 citations Open access
Semantic Scholar
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
Flavia Palombo, C. Graziano, N. Al Wardy, N. Nouri +17 more
2020Human Genetics13 citations Open access
Semantic Scholar
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)
G. Innella, D. Greco, D. Carli, P. Magini +6 more
2020American Journal of Medical Genetics. Part A12 citations Open access
Semantic Scholar
Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers.
Flora Guerra, I. Kurelac, P. Magini, A. Cormio +3 more
2011Gynecologic Oncology12 citations
Semantic Scholar
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability
A. Kashevarova, L. Nazarenko, N. Skryabin, T. Nikitina +13 more
2018American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
Elisa Caramaschi, I. Stanghellini, P. Magini, M. G. Giuffrida +6 more
2014Italian Journal of Pediatrics11 citations Open access
Semantic Scholar
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31
F. Bisulli, I. Naldi, S. Baldassari, P. Magini +9 more
2014Epilepsia11 citations
Semantic Scholar
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
P. Magini, E. Scarano, Ilaria Donati, A. Sensi +9 more
2019Gene10 citations
Semantic Scholar
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
E. Bonora, C. Graziano, Fiorella Minopoli, E. Bacchelli +17 more
2014EMBO Molecular Medicine10 citations Open access
Semantic Scholar
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?
M. Mucciolo, P. Magini, Annabella Marozza, P. Mongelli +7 more
2014American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome: is PTPN22 involved?
M. Colina, T. Pippucci, M. Moro, C. Marconi +5 more
2012Clinical and Experimental Rheumatology9 citations
Semantic Scholar
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
C. Marconi, A. Pecci, Flavia Palombo, F. Melazzini +12 more
2022Haematologica8 citations Open access
Semantic Scholar
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
Cinzia Cameli, Marta Viggiano, M. Rochat, A. Maresca +13 more
2021Journal of Cellular and Molecular Medicine8 citations Open access
Semantic Scholar
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
Luca Gozzelino, Gaga Kochlamazashvili, S. Baldassari, A. Mackintosh +28 more
2022Brain : a journal of neurology6 citations Open access
Semantic Scholar
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).
P. Magini, F. Bisulli, S. Baldassari, C. Stipa +6 more
2014Epilepsy Research6 citations
Semantic Scholar
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
P. Dimartino, V. Mariani, C. Marconi, R. Minardi +12 more
2020Molecular Diagnosis & Therapy5 citations
Semantic Scholar

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