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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Nature communications, 2022-10, Vol.13 (1), p.6470-6470, Article 6470

2022

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190

2021

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Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Human mutation, 2012-03, Vol.33 (3), p.457-466

2012

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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Cell death discovery, 2021-02, Vol.7 (1), p.34-34, Article 34

2021

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Tryptophan Metabolites, Cytokines, and Fatty Acid Binding Protein 2 in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome

Biomedicines, 2021-11, Vol.9 (11), p.1724

2021

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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

Genes, 2021-04, Vol.12 (4), p.581

2021

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Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.590-596

2016

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Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1604-1611

2012

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Neurofibromatosis type 1 and infantile spasms

Child's nervous system, 2009-02, Vol.25 (2), p.211-216

2009

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Moyamoya syndrome and 6p chromosome rearrangements: expanding evidences of a new association

European journal of paediatric neurology, 2016-09, Vol.20 (5), p.766-771

2016

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Toward the Effective Surveillance of Hypospadias

Environmental health perspectives, 2004-03, Vol.112 (3), p.398-402

2004

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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Genetics in medicine, 2010-07, Vol.12 (7), p.431-439

2010

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A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy

Reproductive toxicology (Elmsford, N.Y.), 2007-07, Vol.24 (1), p.1-8

2007

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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Journal of medical genetics, 2023-02, Vol.60 (2), p.163-173

2023

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The +61 A–G polymorphism of the Epidermal Growth Factor gene is not associated with occurrence of non-melanocytic skin tumors in transplant recipients

Journal of dermatological science, 2007-05, Vol.46 (2), p.147-149

2007

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

American journal of human genetics, 2021-03, Vol.108 (3), p.502-516

2021

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Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.219-222

2021

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ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature

European journal of medical genetics, 2021-12, Vol.64 (12), p.104361-104361, Article 104361

2021

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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

European journal of human genetics : EJHG, 2024-04, Vol.32 (9), p.1191-1191

2024

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Prevalence at Birth of Cleft Lip with or without Cleft Palate: Data from the International Perinatal Database of Typical Oral Clefts (IPDTOC)

The Cleft palate-craniofacial journal, 2011-01, Vol.48 (1), p.66-81

IPDTOC Working Group

2011

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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

American journal of human genetics, 2023-08, Vol.110 (8), p.1377-1393

2023

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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Genetics in medicine, 2023-01, Vol.25 (1), p.49-62

2023

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Tryptophan Metabolites, Cytokines, and Fatty Acid Binding Protein 2 in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

Neurofibromatosis type 1 and infantile spasms

Moyamoya syndrome and 6p chromosome rearrangements: expanding evidences of a new association

Toward the Effective Surveillance of Hypospadias

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

The +61 A–G polymorphism of the Epidermal Growth Factor gene is not associated with occurrence of non-melanocytic skin tumors in transplant recipients

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Prevalence at Birth of Cleft Lip with or without Cleft Palate: Data from the International Perinatal Database of Typical Oral Clefts (IPDTOC)

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

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