Research Explorer

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Researcher

Hannah Verdin

75 Results

2022

Long-term outcomes of hypospadias : urological and psychosexual function and endocrine-reproductive capacity

Lloyd TackMartine CoolsAnne-Françoise SpinoitHannah Verdin

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetSanne SteyaertRudy Van CosterPaul CouckeBert CallewaertElke BogaertArnaud VanlanderElke DebackereJody GhijselsPontus LeBlancHannah VerdinLeslie NaesensFilomeen HaerynckSteven CallensBart DermautBruce PoppeJan De BleeckerPatrick SantensPaul BoonGuy LaureysTessa Kerre

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2021

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Elke krepsMattias Van HeetveldeHannah VerdinElfride De BaereBart Leroy

A1 Journal Article in OPHTHALMIC GENETICS

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Simon TavernierJana NeirinckJulie Van De VeldeDorien BaetensHannah VerdinLieve MorbéeElfride De BaerePetra SchelstraeteFilomeen HaerynckMartine Cools

2020

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Hannah VerdinElfride De BaereBert Callewaert

A1 Journal Article in SCIENCE ADVANCES

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah VerdinToon RosseelPhilippe KestelynFrançoise MeireJulie Van De VeldeOlivier VanakkerTom SanteFrauke CoppietersBart LeroyElfride De Baere

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Hannah VerdinAnnelies DheedeneBjörn MentenElfride De Baere

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem Mohammed HJulie De ZaeytijdHannah VerdinBart LeroyElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

2019

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de SompeleKristof Van SchilFrank PeelmanToon RosseelHannah VerdinThalia Van LaethemJulie De ZaeytijdBart LeroyFrauke CoppietersElfride De Baere

A1 Journal Article in GENETICS IN MEDICINE

Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma : lessons learned from a large consanguineous family with pseudodominance

Hannah VerdinJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere

Expanding the differential diagnosis of primary congenital glaucoma : molecular lessons learned from a large consanguineous family

Hannah VerdinJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere

Update on the genetics of differences of sex development (DSD)

Dorien BaetensHannah VerdinElfride De BaereMartine Cools

A1 Journal Article in BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

2018

A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency

Hannah VerdinElfride De Baere

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Dorien BaetensLode De CauwerFrank PeelmanHannah VerdinMarnik VuylstekeMalaïka Van der LindenKarolien De BosscherMartine CoolsElfride De BaereKatleen De Preter

A1 Journal Article in GENETICS IN MEDICINE

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Stijn Van de SompeleKristof Van SchilFrank PeelmanToon RosseelHannah VerdinThalia Van LaethemJulie De ZaeytijdBart LeroyFrauke CoppietersElfride De Baere

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronCaroline Van CauwenberghMattias Van HeetveldeMiriam BauwensHannah VerdinFrauke CoppietersKatleen De PreterBart LeroyElfride De Baere

A1 Journal Article in GENETICS IN MEDICINE

2017

Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES

Hannah VerdinElfride De Baere

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronCaroline Van CauwenberghMattias Van HeetveldeMiriam BauwensHannah VerdinFrauke CoppietersKatleen De PreterBart LeroyElfride De Baere

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronCaroline Van CauwenberghMattias Van HeetveldeMiriam BauwensHannah VerdinFrauke CoppietersKatleen De PreterBart LeroyElfride De Baere

Non-coding variation in disorders of sex development

Dorien BaetensHannah VerdinMartine CoolsElfride De Baere

A1 Journal Article in CLINICAL GENETICS

2016

A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect

Elfride De BaereHannah Verdin

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghBart LeroyElfride De Baere

Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES

Hannah VerdinElfride De Baere

Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES

Hannah VerdinElfride De Baere

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

2015

Blepharophimosis, ptosis, and epicanthus inversus

Hannah VerdinElfride De Baere

Bookchapter in GeneReviews®

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Kristof Van SchilMiriam BauwensHannah VerdinFrauke CoppietersElfride De Baere

A1 Journal Article in GENETICS IN MEDICINE

Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1

Frauke CoppietersAnnelot BaertMarieke De BruyneCaroline Van CauwenberghHannah VerdinMiriam BauwensMaté OngenaertBart LeroyElfride De Baere

A1 Journal Article in HUMAN MUTATION

Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMiriam BauwensHannah VerdinFrauke CoppietersElfride De Baere

Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

Basamat Almoallem Mohammed HMiriam BauwensJulie De ZaeytijdPhilippe KestelynSandra JanssensCaroline Van CauwenberghHannah VerdinSally HooghePrasoon Kumar ThakurFrauke CoppietersKim De LeeneerBart LeroyElfride De Baere

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape

Hannah VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.

Hannah VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

Submicroscopic deletions at 13q32.1 cause congenital microcoria

Hannah VerdinElfride De Baere

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2014

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

Hannah VerdinElfride De Baere

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMiriam BauwensHannah VerdinFrauke CoppietersElfride De Baere

Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMiriam BauwensHannah VerdinFrauke CoppietersElfride De Baere

Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMiriam BauwensHannah VerdinFrauke CoppietersElfride De Baere

Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy

Kristof Van SchilMiriam BauwensHannah VerdinFrauke CoppietersElfride De Baere

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

Frauke CoppietersKristof Van SchilMiriam BauwensHannah VerdinAnnelies De JaegherDelfien SyxTom SanteSteve LefeverBart LeroyElfride De Baere

A1 Journal Article in GENETICS IN MEDICINE

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Hannah VerdinElfride De Baere

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Novel insights into the molecular pathogenesis of three monogenic developmental conditions

Hannah VerdinElfride De Baere

Structural and numerical changes of chromosome X in patients with esophageal atresia

Barbara D'haeneElfride De BaereHannah Verdin

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah VerdinKim De LeeneerSandra JanssensBert CallewaertFransiska MalfaitBjörn MentenElfride De Baere

2013

Forkhead transcription factors in genetic disease

Dorien BaetensHannah VerdinMartine CoolsElfride De Baere

Bookchapter in eLS

Functional characterization of ECSIT, a candidate disease gene for primary congenital glaucoma (PCG) on chromosome 19p13.2

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in hereditary blindness

Kristof Van SchilBart LeroyHannah VerdinFrauke CoppietersElfride De Baere

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies

Kristof Van SchilBart LeroyHannah VerdinFrauke CoppietersElfride De Baere

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies

Kristof Van SchilBart LeroyHannah VerdinFrauke CoppietersElfride De Baere

Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies

Kristof Van SchilBart LeroyHannah VerdinFrauke CoppietersElfride De Baere

Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E

Hannah VerdinBart LeroyBarbara D'haeneElise VantroysSteve LefeverFrauke CoppietersPhilippe KestelynElfride De Baere

Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDiane BeysenBjörn MentenTom SanteElfride De Baere

A1 Journal Article in PLOS GENETICS

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDiane BeysenBjörn MentenTom SanteElfride De Baere

2012

Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay

Hannah VerdinElfride De Baere

A1 Journal Article in CLINICAL DYSMORPHOLOGY

FOXL2 impairment in human disease

Hannah VerdinElfride De Baere

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray

Miriam BauwensFrauke CoppietersHannah VerdinElfride De Baere

Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray

Miriam BauwensFrauke CoppietersHannah VerdinElfride De Baere

Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray

Miriam BauwensFrauke CoppietersHannah VerdinElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

Hannah VerdinElfride De Baere

A1 Journal Article in MOLECULAR VISION

2011

High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneBjörn MentenElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynBart LeroyElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynBart LeroyElfride De Baere

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDiane BeysenBjörn MentenElfride De Baere

2010

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneBjörn MentenElfride De Baere

Identification of novel disease gene for primary congenital glaucoma (PCG) through homozygosity mapping and next-generation sequencing strategies in a large consanguineous pedigree