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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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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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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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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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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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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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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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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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Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome: Emerging Microdeletion and Microduplication Syndromes

European journal of medical genetics, 2009, Vol.52 (2-3), p.145-147

2009

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Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis

Prenatal diagnosis, 1999-06, Vol.19 (6), p.580-582

1999

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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

The New England journal of medicine, 2015-05, Vol.372 (20), p.1887-1897

2015

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

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

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

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)

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

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

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

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

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

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

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

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

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

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

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome: Emerging Microdeletion and Microduplication Syndromes

Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

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

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

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