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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

PloS one, 2020-08, Vol.15 (8), p.e0237803-e0237803

2020

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Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

PloS one, 2018-07, Vol.13 (7), p.e0200446-e0200446

2018

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A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

BMC neurology, 2020-09, Vol.20 (1), p.327-6, Article 327

2020

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Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Genes, 2019-07, Vol.10 (8), p.580

2019

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Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1521-1530

2017

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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian journal of pediatrics, 2018-03, Vol.44 (1), p.41-41, Article 41

2018

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A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

Frontiers in genetics, 2018-11, Vol.9, p.549

2018

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Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Skeletal muscle, 2019-05, Vol.9 (1), p.14-14, Article 14

2019

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Enhancer chip: detecting human copy number variations in regulatory elements

PloS one, 2012-12, Vol.7 (12), p.e52264-e52264

2012

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Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

The Journal of molecular diagnostics : JMD, 2020-01, Vol.22 (1), p.40-49

2020

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Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1460-1461

2015

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Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome

Indian pediatrics, 2021-12, Vol.58 (12), p.1187-1188

2021

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The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

Neurology, 2016-07, Vol.87 (1), p.71

2016

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Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2

Neurological sciences, 2019-07, Vol.40 (7), p.1475-1476

2019

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UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.722-726

2018

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Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Neuromuscular disorders : NMD, 2018-07, Vol.28 (7), p.586-591

2018

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Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.367-369

2016

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Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Neuromuscular disorders : NMD, 2016-04, Vol.26 (4-5), p.292-299

2016

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A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

Journal of neurochemistry, 2015-12, Vol.135 (6), p.1123-1128

2015

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Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1

European journal of human genetics : EJHG, 2015-05, Vol.23 (11), p.1460-1461

2015

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Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

Clinical chemistry (Baltimore, Md.), 2011-11, Vol.57 (11), p.1584-1596

2011

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A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects

European journal of paediatric neurology, 2017-11, Vol.21 (6), p.902-906

2017

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Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)

Journal of neuromuscular diseases, 2020-01, Vol.7 (4), p.477-481

2020

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Seismic reliability of traditional and innovative concentrically braced frames

Earthquake engineering & structural dynamics, 2011-10, Vol.40 (13), p.1455-1474

2011

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Enhancer chip: detecting human copy number variations in regulatory elements

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1

Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1

Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects

Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)

Seismic reliability of traditional and innovative concentrically braced frames

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