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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1361-1368

2019

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Distinct neurological disorders with ATP1A3 mutations

Lancet neurology, 2014-05, Vol.13 (5), p.503-514

2014

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families

PloS one, 2022-10, Vol.17 (10), p.e0275988

2022

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families

PloS one, 2022-10, Vol.17 (10), p.e0275988-e0275988

2022

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Coding exons function as tissue-specific enhancers of nearby genes

Genome research, 2012-06, Vol.22 (6), p.1059-1068

2012

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Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer

Genes, 2024-04, Vol.15 (5), p.554

2024

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Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2860-2872

2013

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Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung)

Journal of translational medicine, 2024-07, Vol.22 (1), p.714-32, Article 714

2024

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Oral-facial-digital syndromes: Review and diagnostic guidelines

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3314-3323

2007

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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.567-575

2020

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Simultaneous presence of Brugada and overgrowth syndromes

Monaldi archives for chest disease, 2023-04, Vol.94 (1)

2023

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Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision

Genes, 2024-07, Vol.15 (7), p.908

2024

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A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

Frontiers in neuroscience, 2024-01, Vol.17, p.1304080-1304080

2024

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Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

Genes, 2023-06, Vol.14 (7), p.1353

2023

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Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

Kidney & blood pressure research, 2021-08, Vol.46 (4), p.469-474

2021

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Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

Genes, 2023-07, Vol.14 (7), p.1482

2023

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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

Neurological sciences, 2022-02, Vol.43 (2), p.1071-1077

2022

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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

Acta dermato-venereologica, 2020-01, Vol.100 (1), p.adv00038-2

2020

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RADX Gene Variant May Predispose to Familial Asperger Syndrome

Genes, 2023-01, Vol.14 (2), p.301

2023

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Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study

Biology (Basel, Switzerland), 2022-10, Vol.11 (11), p.1565

2022

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Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders

Genes, 2022-09, Vol.13 (10), p.1685

2022

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Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations

Genes, 2022-12, Vol.13 (12), p.2266

2022

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White matter and cerebellar involvement in alternating hemiplegia of childhood

Journal of neurology, 2020-05, Vol.267 (5), p.1300-1311

2020

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Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results

Journal of clinical medicine, 2021-10, Vol.10 (21), p.5060

2021

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Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Human molecular genetics, 2012-11, Vol.21 (22), p.4930-4938

2012

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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

Distinct neurological disorders with ATP1A3 mutations

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families

Coding exons function as tissue-specific enhancers of nearby genes

Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer

Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung)

Oral-facial-digital syndromes: Review and diagnostic guidelines

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

Simultaneous presence of Brugada and overgrowth syndromes

Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision

A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

RADX Gene Variant May Predispose to Familial Asperger Syndrome

Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations

White matter and cerebellar involvement in alternating hemiplegia of childhood

Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

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