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Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al

Genetics in medicine, 2021-02, Vol.23 (2), p.421-422

2021

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Molecular Pathways within Autism Spectrum Disorder Endophenotypes

Journal of molecular neuroscience, 2021-07, Vol.71 (7), p.1357-1367

2021

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Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

BMC pediatrics, 2024-04, Vol.24 (1), p.271-271, Article 271

2024

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A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss

Biology (Basel, Switzerland), 2022-11, Vol.11 (11), p.1608

2022

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Neurofibromatosis: New Clinical Challenges in the Era of COVID-19

Biomedicines, 2022-04, Vol.10 (5), p.940

2022

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Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

Frontiers in immunology, 2018-07, Vol.9, p.1715-1715

2018

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Body weight changes and bipolar disorder: a molecular pathway analysis

Pharmacogenetics and genomics, 2022-12, Vol.32 (9), p.308-320

2022

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Autoimmune hepatitis in genetic syndromes: A literature review

World journal of hepatology, 2021-10, Vol.13 (10), p.1328-1340

2021

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Genetic findings in early miscarriage analysis by Chromosomal Microarray and Whole Exome Sequencing

The FASEB journal, 2022-05, Vol.36 (S1), p.n/a

2022

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Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

Investigative ophthalmology & visual science, 2018-02, Vol.59 (2), p.843-857

2018

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TU24. SUICIDE RELATED PHENOTYPES IN A BIPOLAR SAMPLE: GENETIC UNDERPINNINGS

European neuropsychopharmacology, 2021-10, Vol.51, p.e106-e107

2021

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CNVs inform the biological network of Autism spectrum disorder

Psychiatry research, 2021-03, Vol.297, p.113729-113729, Article 113729

2021

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Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Genes, 2023-02, Vol.14 (2), p.484

2023

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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.345-352

2023

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H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Genes, 2022-06, Vol.13 (6), p.1019

2022

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Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide

The journal of pediatric pharmacology and therapeutics, 2023, Vol.28 (7), p.662-666

2023

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Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child

BMJ case reports, 2019-10, Vol.12 (10), p.e230152

2019

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Age and sex prevalence estimate of Joubert syndrome in Italy

Neurology, 2020-02, Vol.94 (8)

2020

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Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1734-1743

2014

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Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

Genes, 2021-09, Vol.12 (10), p.1482

2021

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Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature

Genes, 2022-03, Vol.13 (4), p.581

2022

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Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Annals of human genetics, 2015-09, Vol.79 (5), p.341-349

2015

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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

Genes, 2021-04, Vol.12 (5), p.652

2021

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Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al

Molecular Pathways within Autism Spectrum Disorder Endophenotypes

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss

Neurofibromatosis: New Clinical Challenges in the Era of COVID-19

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

Body weight changes and bipolar disorder: a molecular pathway analysis

Autoimmune hepatitis in genetic syndromes: A literature review

Genetic findings in early miscarriage analysis by Chromosomal Microarray and Whole Exome Sequencing

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

TU24. SUICIDE RELATED PHENOTYPES IN A BIPOLAR SAMPLE: GENETIC UNDERPINNINGS

CNVs inform the biological network of Autism spectrum disorder

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide

Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child

Age and sex prevalence estimate of Joubert syndrome in Italy

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature

Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene

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