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Mutation update on the CHD7 gene involved in CHARGE syndrome

Human mutation, 2012-08, Vol.33 (8), p.1149-1160

2012

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CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: a case report

Clinical Pediatric Endocrinology, 2024, pp.2024-0006

2024

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

American journal of human genetics, 2017-05, Vol.100 (5), p.773-788

2017

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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

Human mutation, 2012-08, Vol.33 (8), p.1251-1260

2012

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G-quadruplex structures at the promoter of HOXC10 regulate its expression

Biochimica et biophysica acta. Gene regulatory mechanisms, 2018-11, Vol.1861 (11), p.1018-1028

2018

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Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors

Genes & development, 2018-01, Vol.32 (2), p.165-180

2018

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Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

Klinische Pädiatrie, 2023-12

2023

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Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature

European journal of medical genetics, 2021-04, Vol.64 (4), p.104189-104189, Article 104189

2021

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CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression

Cardiovascular research, 2023-09, Vol.119 (11), p.2089-2105

2023

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Journal of Medical Genetics, 2011-05, Vol.48 (5), p.334-342

2011

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Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

Frontiers in genetics, 2023-02, Vol.14, p.1082100

2023

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Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering

Clinical genetics, 2023-10, Vol.104 (4), p.466-471

2023

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Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63491-n/a

2024

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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-12, Vol.175 (4), p.417-430

2017

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Deletion of the chd7 Hinders Oligodendrocyte Progenitor Cell Development and Myelination in Zebrafish

International journal of molecular sciences, 2023-09, Vol.24 (17), p.13535

2023

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Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Frontiers in genetics, 2020-06, Vol.11, p.592-592

2020

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CHD7 regulates cardiovascular development through ATP-dependent and -independent activities

Proceedings of the National Academy of Sciences - PNAS, 2020-11, Vol.117 (46), p.28847-28858

2020

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Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length

Experimental eye research, 2023-01, Vol.226, p.109299-109299, Article 109299

2023

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Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

Trends in genetics, 2015-10, Vol.31 (10), p.600-611

2015

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CHARGE syndrome‐associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms

The FASEB journal, 2022-03, Vol.36 (3), p.e22176-n/a

2022

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Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression

EMBO reports, 2021-06, Vol.22 (6), p.e50958-n/a

2021

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CHARGE syndrome, from occurrence to treatment

Human gene (Amsterdam, Netherlands), 2023-05, Vol.36, p.201176, Article 201176

2023

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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.674-686

2010

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Mutation update on the CHD7 gene involved in CHARGE syndrome

CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: a case report

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Sense-Antisense lncRNA Pair Encoded by Locus 6p22.3 Determines Neuroblastoma Susceptibility via the USP36-CHD7-SOX9 Regulatory Axis

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

G-quadruplex structures at the promoter of HOXC10 regulate its expression

Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors

Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature

CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Deletion of the chd7 Hinders Oligodendrocyte Progenitor Cell Development and Myelination in Zebrafish

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

CHD7 regulates cardiovascular development through ATP-dependent and -independent activities

Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length

Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

Genotype–phenotype correlations in individuals with pathogenic RERE variants

CHARGE syndrome‐associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms

Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression

CHARGE syndrome, from occurrence to treatment

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

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