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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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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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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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Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

Gastroenterology (New York, N.Y. 1943), 2013-09, Vol.145 (3), p.544-547

2013

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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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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.60-13, Article 60

2023

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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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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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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

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

2021

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New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-12, Vol.175 (4), p.397-406

2017

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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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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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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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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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Diagnostic Genome Profiling in Mental Retardation

American journal of human genetics, 2005-10, Vol.77 (4), p.606-616

2005

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Clinical utility gene card for: CHARGE syndrome - update 2015

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.3-4

2015

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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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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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Mutation update on the CHD7 gene involved in CHARGE syndrome

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

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

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

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

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

Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

Diagnostic interpretation of array data using public databases and internet sources

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

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

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

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

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

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

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

The introduction of arrays in prenatal diagnosis: A special challenge

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

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

Diagnostic Genome Profiling in Mental Retardation

Clinical utility gene card for: CHARGE syndrome - update 2015

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

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

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