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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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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.59-59, Article 59

2023

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The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.68-68, Article 68

2023

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The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1478-1489

2018

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Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.60-60, Article 60

2023

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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Clinical genetics, 2021-10, Vol.100 (4), p.396-404

2021

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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

BMC medical genomics, 2016-02, Vol.9 (7), p.7-7, Article 7

2016

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Diagnostic interpretation of array data using public databases and internet sources

Human mutation, 2012-06, Vol.33 (6), p.930-940

2012

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Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

PloS one, 2015-11, Vol.10 (11), p.e0142350-e0142350

2015

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An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1459-1465

2019

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Human genetics, 2014-08, Vol.133 (8), p.997-1009

2014

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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

American journal of human genetics, 2011-12, Vol.89 (6), p.813-819

2011

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Duplication 2p25 in a child with clinical features of CHARGE syndrome

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1148-1154

2016

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The role of TBX18 in congenital heart defects in humans not confirmed

European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.138-141

2023

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TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1669-1676

2021

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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2739-2745

2011

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Study of smell and reproductive organs in a mouse model for CHARGE syndrome

European journal of human genetics : EJHG, 2010-02, Vol.18 (2), p.171-177

2010

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Guidelines in CHARGE syndrome and the missing link: Cranial imaging

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-12, Vol.175 (4), p.450-464

2017

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Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

The journal of clinical endocrinology and metabolism, 2021-12, Vol.106 (12), p.3621-3633

2021

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

American journal of human genetics, 2012-08, Vol.91 (2), p.252-264

2012

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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

EMBO molecular medicine, 2021-05, Vol.13 (5), p.e13258-n/a

2021

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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

American journal of human genetics, 2003-12, Vol.73 (6), p.1261-1270

2003

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The introduction of arrays in prenatal diagnosis: A special challenge

Human mutation, 2012-06, Vol.33 (6), p.923-929

2012

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Mutation update on the CHD7 gene involved in CHARGE syndrome

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Diagnostic interpretation of array data using public databases and internet sources

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Duplication 2p25 in a child with clinical features of CHARGE syndrome

The role of TBX18 in congenital heart defects in humans not confirmed

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

The introduction of arrays in prenatal diagnosis: A special challenge

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