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Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: Patient outcomes, rate of appropriate and inappropriate interventions, and complications

The American heart journal, 2013-09, Vol.166 (3), p.496-502

2013

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Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

American journal of human genetics, 2007-01, Vol.80 (1), p.1-11

2007

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human mutation, 2022-07, Vol.43 (7), p.832-858

2022

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High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

Human genetics, 2011-02, Vol.129 (2), p.199-208

2011

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What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

European journal of pediatrics, 2007-07, Vol.166 (7), p.637-643

2007

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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

Human mutation, 2019-06, Vol.40 (6), p.765-787

2019

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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.102-107

2011

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FOXP1-related intellectual disability syndrome: a recognisable entity

Journal of medical genetics, 2017-09, Vol.54 (9), p.613-623

2017

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Post-zygotic origin of isochromosome 12p

Prenatal diagnosis, 2004-12, Vol.24 (12), p.984-988

2004

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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.52-52, Article 52

2015

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Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

Investigative ophthalmology & visual science, 2014-09, Vol.55 (10), p.6817-6828

2014

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Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

Journal of vision (Charlottesville, Va.), 2015-01, Vol.15 (15), p.20-20

2015

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Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Human mutation, 2008-02, Vol.29 (2), p.232-239

2008

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Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

Investigative ophthalmology & visual science, 2006-03, Vol.47 (3), p.1167-1176

2006

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A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

European journal of human genetics : EJHG, 2005-04, Vol.13 (4), p.503-505

2005

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Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

European journal of medical genetics, 2009-03, Vol.52 (2), p.120-122

2009

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Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

European journal of medical genetics, 2009-03, Vol.52 (2), p.145-147

2009

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Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3

Nature genetics, 1995-11, Vol.11 (3), p.338-340

1995

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Follow-up of adult males with chromosome 18p deletion

European journal of medical genetics, 2005-04, Vol.48 (2), p.189-193

2005

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Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

Heart rhythm, 2004-11, Vol.1 (5), p.610-615

2004

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Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: Patient outcomes, rate of appropriate and inappropriate interventions, and complications

Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

FOXP1-related intellectual disability syndrome: a recognisable entity

Post-zygotic origin of isochromosome 12p

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

Positional cloning of the Fanconi anaemia group A gene

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3

Follow-up of adult males with chromosome 18p deletion

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

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