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Author Details

Stefano D'Arrigo
Fondazione IRCCS Istituto Neurologico Carlo Besta
2000
103
28
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
33394245CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.J Autism Dev Disord2023
37965172Structural and connectivity parameters reveal spared connectivity in young patients with non-progressive compared to slow-progressive cerebellar ataxia.Front Neurol2023
37545716Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.Front Neurol2023
37761804Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review.Genes (Basel)2023
37190585Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm.Brain Sci2023
37174959Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience.Diagnostics (Basel)2023
37301203Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.Am J Hum Genet2023
37129092Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.J Intellect Disabil Res2023
37090941Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i>-Related Syndrome.Neurol Genet2023
36788019Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.J Med Genet2023
36434256Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.Eur J Hum Genet2023
36680497Periventricular heterotopia in a male child with USP9X missense variant.Am J Med Genet A2023
36175354Expanding the natural history of CASK-related disorders to the prenatal period.Dev Med Child Neurol2023
36114979Fibrocartilaginous embolism: a rare cause leading to spinal cord infarction?Neurol Sci2023
34085948Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.J Med Genet2022
35821519A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.Eur J Hum Genet2022
35488810Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.Am J Med Genet C Semin Med Genet2022
36411275Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.Cell Death Dis2022
36042474Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP).Ital J Pediatr2022
36259739TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.Hum Mutat2022
35146895Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.Am J Med Genet A2022
34675124<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.J Med Genet2022
34010585Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.Disabil Rehabil2022
32737135Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.J Med Genet2021
33853164A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.Neuropediatrics2021
33895390Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol.Seizure2021
33831796Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.Seizure2021
33277420Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.Neurology2021
30403813Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.Nephrol Dial Transplant2020
31784971A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects.Neuropediatrics2020
31710777Healthcare recommendations for Joubert syndrome.Am J Med Genet A2020
33390987Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.Front Pharmacol2020
33043631Neurological phenotype of Potocki-Lupski syndrome.Am J Med Genet A2020
32366537Abnormal cerebellar foliation in <i>EBF3</i> mutation.Neurology2020
32477400Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving <i>BCL2L10</i>, <i>GNB5</i>, and <i>MYO5C</i> Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).Front Genet2020
32472476Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.Cerebellum2020
30528446Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.Eur J Med Genet2019
32042905Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants.Neurol Genet2019
31272113Flunarizine and Aspirin for Transient Hemiparesis in Sturge-Weber Syndrome.Neuropediatrics2019
31130681Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.J Clin Med2019
30826161Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.Mol Genet Metab2019
30793471EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.Am J Med Genet A2019
29795474Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.Eur J Hum Genet2018
30105822The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.Am J Med Genet B Neuropsychiatr Genet2018
29903438Cognitive aspects: sequencing, behavior, and executive functions.Handb Clin Neurol2018
28386946Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.Clin Genet2018
28900662Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.Eur Radiol2017
28402445De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.Brain2017
28345801ZC4H2 deletions can cause severe phenotype in female carriers.Am J Med Genet A2017
28965847Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.Am J Hum Genet2017
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Collaborators

University of Pavia
Co-authored papers 21
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 19
IRCCS Mondino Foundation
Co-authored papers 14
University of Pavia
Co-authored papers 14
Children's University Hospital
Co-authored papers 12
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 10
Fondazione IRCCS Casa Sollievo della Sofferenza,71013
Co-authored papers 7
Sapienza University of Rome
Co-authored papers 6
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 6
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 6
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 6
University of California
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 4
University of Minnesota
Co-authored papers 4
Radboud University Medical Center
Co-authored papers 3
University of Washington
Co-authored papers 3
Ospedale Pediatrico Bambino Gesu IRCCS
Co-authored papers 3
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Boston Children's Hospital
Co-authored papers 2
Medical University of Vienna
Co-authored papers 2
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 2
Haukeland University Hospital
Co-authored papers 2
University of Virginia
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Children's University Hospital, Bern University Hospital, University of Bern
Co-authored papers 2
Fondazione IRCCS Casa Sollievo della Sofferenza
Co-authored papers 2
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
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Yale University School of Medicine
Co-authored papers 1