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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 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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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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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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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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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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In memory of Ludwine Messiaen, Ph.D. (1956–2024)

Clinical genetics, 2024-11, Vol.106 (5), p.535-536

2024

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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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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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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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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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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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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.696-704

2022

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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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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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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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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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Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

Clinical genetics, 2024-08, Vol.106 (2), p.127-139

2024

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Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

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

2024

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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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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 Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

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

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

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

IQCB1 mutations in patients with leber congenital amaurosis

In memory of Ludwine Messiaen, Ph.D. (1956–2024)

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

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

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

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

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

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

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

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

Mother and daughter became father and son： a case report

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

FOXL2 Impairment in Human Disease

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