P. Magini

发表

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

B. Giusti, R. Abbate, E. Bonora, 2013, Genome Biology.

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

E. Bacchelli, G. Romeo, C. Graziano, 2015, Molecular Cytogenetics.

Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing

A. Magi, T. Pippucci, A. Mingrino, 2021, bioRxiv.

Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion

C. Ceccarelli, I. Neri, C. Graziano, 2011, Journal of Medical Genetics.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

A. Pession, G. Romeo, C. Graziano, 2009, Blood.

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum

A. Superti-Furga, C. Graziano, M. Seri, 2012, American journal of medical genetics. Part A.

New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer

L. Bernardini, A. Novelli, C. Graziano, 2016, American journal of medical genetics. Part A.

Messenger RNA processing is altered in autosomal dominant leukodystrophy†

P. Cortelli, A. Brusco, A. Baruzzi, 2015, Human molecular genetics.

Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome: is PTPN22 involved?

T. Pippucci, F. Trotta, M. Seri, 2012, Clinical and experimental rheumatology.

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

D. Martinelli, M. Seri, P. Magini, 2019, Front. Neurol..

Array CGH analysis of a cohort of Russian patients with intellectual disability.

V. Kučinskas, G. Romeo, E. Sazhenova, 2014, Gene.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

T. Pippucci, G. Neri, O. Zuffardi, 2017, Orphanet Journal of Rare Diseases.

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

I. Scheffer, S. Berkovic, M. Bahlo, 2022, Brain : a journal of neurology.

Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations

G. Scarano, E. Gambineri, M. D. Monica, 2012, American journal of medical genetics. Part A.

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

C. Marco-Marín, V. Rubio, F. Faravelli, 2019, Annals of clinical and translational neurology.

Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing.

A. Magi, T. Pippucci, A. Mingrino, 2022, The Journal of molecular diagnostics : JMD.

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

G. Cantalupo, T. Pippucci, C. La Morgia, 2020, Human Genetics.

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

P. Nurden, P. Noris, R. Favier, 2014, Haematologica.

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

E. Bacchelli, E. Maestrini, V. Carelli, 2021, Journal of cellular and molecular medicine.

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

E. Bacchelli, A. Battaglia, E. Maestrini, 2014, EMBO molecular medicine.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

E. Bertini, V. Tiranti, R. Carrozzo, 2019, The Journal of clinical investigation.

Messenger RNA processing is altered in autosomal dominant leukodystrophy

P. Cortelli, A. Brusco, A. Baruzzi, 2017, Human molecular genetics.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

T. Wieland, T. Strom, A. Schlessinger, 2014, European Journal of Human Genetics.

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

N. Katsanis, T. Pippucci, M. Tartaglia, 2014, Human molecular genetics.

Paola Giordano, Marco Seri, Anna Savoia, 2013, Blood.

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

P. Noris, S. Perrotta, T. Pippucci, 2011, American journal of human genetics.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

P. Striano, M. Fornerod, N. Brunetti‐Pierri, 2019, American journal of human genetics.

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.

L. Mazzanti, A. Parmeggiani, A. Percesepe, 2019, Gene.

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

A. Percesepe, P. Magini, P. Paolucci, 2014, Italian Journal of Pediatrics.

9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?

A. Renieri, M. Mucciolo, F. Mari, 2014, American journal of medical genetics. Part A.

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

M. Fichera, C. Romano, M. Rocchi, 2007, Journal of Medical Genetics.

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

B. Hallgrímsson, E. Bonora, F. Brancati, 2021, bioRxiv.

Prenatal diagnosis of Simpson–Golabi–Behmel syndrome

T. Pippucci, F. Lalatta, M. Seri, 2016, American journal of medical genetics. Part A.

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

L. Vitale, A. Piovesan, F. Antonaros, 2022, BMC medical genomics.

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

L. Vitale, A. Piovesan, F. Antonaros, 2019, Molecular genetics & genomic medicine.

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

G. Cantalupo, T. Pippucci, C. La Morgia, 2020, Human Genetics.

From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

T. Pippucci, L. Mazzanti, D. Milani, 2016, Human mutation.

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

E. Bacchelli, G. Romeo, C. Graziano, 2015, Molecular Cytogenetics.

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells

R. Masetti, Claudio La Scola, P. Magini, 2020, International journal of molecular sciences.

Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes

L. Tassi, M. Bramerio, T. Pippucci, 2020, Molecular Diagnosis & Therapy.

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

V. Fishman, G. Romeo, I. Lebedev, 2018, American journal of medical genetics. Part A.

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.

M. Fichera, C. Romano, J. Clayton-Smith, 2009, American journal of human genetics.

Characterization of BRCA Deficiency in Ovarian Cancer

D. Santini, A. Perrone, C. Ceccarelli, 2023, Cancers.

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

R. Giorda, O. Zuffardi, L. Mazzanti, 2010, Molecular Syndromology.

EX-HOM (EXome HOMozygosity): A Proof of Principle

R. Casadio, P. Martelli, A. Magi, 2011, Human Heredity.

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements

A. Percesepe, P. Magini, A. Farina, 2013, American journal of medical genetics. Part A.

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

D. Nickerson, Joshua D. Smith, M. Bamshad, 2019, Human Genetics.

Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature

A. Pession, D. Zama, Edoardo Muratore, 2021, Frontiers in Pediatrics.

Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)

C. Romano, A. Brusco, G. Ferrero, 2020, American journal of medical genetics. Part A.

Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers.

D. Santini, C. Ceccarelli, P. Magini, 2011, Gynecologic oncology.

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

P. Noris, T. Pippucci, A. Savoia, 2022, Haematologica.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

Z. Tümer, G. Romeo, I. Lebedev, 2014, Molecular Cytogenetics.

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Marco Seri, Tommaso Pippucci, Paolo Tinuper, 2013, Epilepsia.

Erratum: A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype (Epilepsia (2013) 54 (1298-1306))

G. Cantalupo, I. Naldi, T. Pippucci, 2013 .

LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)

I. Naldi, T. Pippucci, F. Bisulli, 2014, Epilepsy Research.

Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31

I. Naldi, T. Pippucci, F. Bisulli, 2014, Epilepsia.

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

R. Lodi, T. Pippucci, C. Tonon, 2015, EMBO molecular medicine.