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

Genetics in medicine, 2019-08, Vol.21 (8), p.1761-1771

2019

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

American journal of human genetics, 2016-05, Vol.98 (5), p.981-992

2016

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A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

Scientific reports, 2021-08, Vol.11 (1), p.15834-15834, Article 15834

2021

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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

American journal of human genetics, 2012-09, Vol.91 (3), p.527-532

2012

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Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Genetics in medicine, 2014-09, Vol.16 (9), p.671-680

2014

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Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Scientific reports, 2021-01, Vol.11 (1), p.117-117, Article 117

2021

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IQCB1 mutations in patients with leber congenital amaurosis

Investigative ophthalmology & visual science, 2011-02, Vol.52 (2), p.834-839

2011

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Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

American journal of human genetics, 2007-07, Vol.81 (1), p.147-157

2007

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base

Human mutation, 2010-10, Vol.31 (10), p.1097-1108

2010

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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

American journal of human genetics, 2015-04, Vol.96 (4), p.631-639

2015

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Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

Ophthalmology (Rochester, Minn.), 2013-06, Vol.120 (6), p.1239-1246

2013

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

American journal of human genetics, 2003-02, Vol.72 (2), p.478-487

2003

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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Human mutation, 2017-11, Vol.38 (11), p.1579-1591

2017

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NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Genetics in medicine, 2017-04, Vol.19 (4), p.367-376

2017

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Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1424-1431

2018

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CRB1 -associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up

British journal of ophthalmology, 2022-05, Vol.106 (5), p.696

2022

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HRAS‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects

Clinical genetics, 2023-06, Vol.103 (6), p.709-713

2023

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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

Proceedings of the National Academy of Sciences - PNAS, 2016-12, Vol.113 (50), p.14384-14389

2016

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Mother and daughter became father and son： a case report

Asian journal of andrology, 2015-09, Vol.17 (5), p.855-856

2015

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Nature (London), 2012-09, Vol.489 (7415), p.313-317

2012

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FOXL2 Impairment in Human Disease

Hormone research in paediatrics, 2012-01, Vol.77 (1), p.2-11

2012

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Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

Nature communications, 2024-03, Vol.15 (1), p.2328-2328

2024

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Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Nature communications, 2024-02, Vol.15 (1), p.1600-1600

2024

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Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

Human mutation, 2023-12, Vol.2023, p.1-12

2023

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

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

IQCB1 mutations in patients with leber congenital amaurosis

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate

CRB1 -associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up

HRAS‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

Mother and daughter became father and son： a case report

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

FOXL2 Impairment in Human Disease

Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

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