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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2259-2275

2018

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The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2456-2459

2018

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High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Journal of medical genetics, 2017-02, Vol.54 (2), p.87-92

2017

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Prevalence of pathogenic copy number variants among children conceived by donor oocyte

Scientific reports, 2021-03, Vol.11 (1), p.6752-6752, Article 6752

2021

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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern

Genes, 2024-06, Vol.15 (6), p.802

2024

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Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

International journal of genomics, 2017-01, Vol.2017 (2017), p.1-11

2017

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De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Pediatric research, 2016-12, Vol.80 (6), p.809-815

2016

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Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing

Pediatric research, 2021-08, Vol.90 (2), p.284-288

2021

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Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.824-833

2023

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

American journal of human genetics, 2015-12, Vol.97 (6), p.922-932

2015

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in medicine, 2023-01, Vol.25 (1), p.37-48

2023

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in medicine, 2022-09, Vol.24 (9), p.1941-1951

2022

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Chimeric Genes in Deletions and Duplications Associated to Intellectual Disability

International journal of genomics, 2017-01, Vol.2017

2017

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A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

International journal of endocrinology and metabolism, 2018-07, Vol.16 (3), p.e67329

2018

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Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

Frontiers in neurology, 2021, Vol.12, p.784892-784892

2021

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A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

International journal of endocrinology and metabolism, 2018, Vol.16 (3), p.e67329-e67329

2018

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Prevalence of Colorectal Neoplasms Among Patients With Enterococcus faecalis Endocarditis in the GAMES Cohort (2008–2017)

Mayo Clinic proceedings, 2021-01, Vol.96 (1), p.132-146

2021

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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Prevalence of pathogenic copy number variants among children conceived by donor oocyte

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Chimeric Genes in Deletions and Duplications Associated to Intellectual Disability

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

Prevalence of Colorectal Neoplasms Among Patients With Enterococcus faecalis Endocarditis in the GAMES Cohort (2008–2017)

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