Research Explorer

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Researcher

Hannah Verdin

80 Results

2023

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Nolwenn Jean-MarçaisEstrella López-MartínMaria Antonietta MencarelliSébastien MouttonRolph PfundtHana SafraouChristel Thauvin-RobinetJulien ThevenonFrédéric Tran Mau-ThemBert B.A. de Vries et al.

A1 Journal Article in GENETICS IN MEDICINE

The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency

Iulia PotoracMarie LaterreOlivier MalaiseVlad NechiforCorinne FasquelleOrphal ColleyeNancy DetrembleurHannah VerdinSofie SymoensElfride De Baere et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

2022

Blepharophimosis, ptosis, and epicanthus inversus syndrome

Hannah VerdinCharlotte MattonElfride De Baere

Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study

Lloyd J.W. TackAnne-Françoise SpinoitPiet HoebekeStefan RiedlAlexander SpringerUrsula TonnhoferManuela HiessJulia WeningerAhmed MahmoudKelly Tilleman et al.

A1 Journal Article in EBIOMEDICINE

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

Lloyd TackMartine CoolsAnne-Françoise SpinoitHannah Verdin

Marked hypotonia : an additional feature of ANO3-related movement disorder

Patrick SantensArnout BruggemanNika SchuermansHannah VerdinBart Dermaut

Editorial material

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

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPatrick Verloo et al.

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

Tom Van HoordeFanny NerinckxElke krepsDimitri RoelsPhilippe HuygheMattias Van HeetveldeHannah VerdinElfride De BaereIrina BalikovaBart 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

Celien GrijpSimon TavernierJana NeirinckMaha Abdullhadi-AtwanJulie Van De VeldeDorien BaetensHannah VerdinLieve MorbéeElfride De BaereDavid Zangen et al.

2020

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

Kezhi YanJustine RousseauKeren MacholLaura A. CrossKatherine E. AgreCynthia Forster GibsonAnne GoverdeKendra L. EnglemanHannah VerdinElfride De Baere et al.

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 RosseelSascha VermeerIrina BalikovaPhilippe KestelynColombine MeunierFrançoise MeireJulie Van De VeldeOlivier VanakkerJenneke Van Den Ende et al.

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

Elise PozzaHannah VerdinHilde DeconinckAnnelies DheedeneBjörn MentenElfride De BaereIrina Balikova

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 HGavin ArnoJulie De ZaeytijdHannah VerdinIrina BalikovaIngele CasteelsThomy de RavelSarah HullMartina SuzaniAnne Destrée et al.

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 SompeleClaire SmithMarianthi KaraliMarta CortonKristof Van SchilFrank PeelmanTimothy CherryToon RosseelHannah VerdinJulien Derolez et al.

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 VerdinIrina BalikovaJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere

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

Hannah VerdinIrina BalikovaJulie 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

Jérémie RosainCarmen Oleaga-QuintasCaroline DeswarteHannah VerdinStéphane MarotGaryfallia SyridouMahboubeh MansouriS Alireza MahdavianiEdna Venegas-MontoyaMaria Tsolia et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

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

Dorien BaetensTülay GüranBerenice B MendoncaNathalia L GomesLode De CauwerFrank PeelmanHannah VerdinMarnik VuylstekeMalaïka Van der LindenHans Stoop et al.

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 SompeleClaire SmithMarianthi KaraliMarta CortonKristof Van SchilFrank PeelmanTimothy CherryToon RosseelHannah VerdinJulien Derolez et al.

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 CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

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 VerdinAndrew ShellingDavid MarkieAndrea VincentElfride 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 CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

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 CarronAlexander AslanidisCaroline Van CauwenberghAnne Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

Non-coding variation in disorders of sex development

Dorien BaetensBerenice Bilharinho de MendonçaHannah 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

Meriel McEntagartKathleen A WilliamsonJacqueline K RaingerAnn WheelerAnne SeawrightElfride De BaereHannah VerdinL Therese BergendahlAlan QuigleyJoe Rainger et al.

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 CauwenberghAnja Kathrin MayerSusanne KohlBart 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 CauwenberghAnja Kathrin MayerSusanne KohlBart 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 CauwenberghAnja Kathrin MayerSusanne KohlBart 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 CauwenberghAnja Kathrin MayerSusanne KohlBart 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 VerdinAndrew ShellingAndrea VincentElfride De Baere

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

Hannah VerdinAndrew ShellingAndrea VincentElfride De Baere

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

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath et al.

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 SchilFrançoise MeireMarcus KarlstetterMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertChristian Van NechelThomas LangmannNicolas Deconinck et al.

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 CoppietersAnne Laure TodeschiniTakuro FujimakiAnnelot BaertMarieke De BruyneCaroline Van CauwenberghHannah VerdinMiriam BauwensMaté OngenaertMineo Kondo et al.

A1 Journal Article in HUMAN MUTATION

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

Kristof Van SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride De Baere

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

Basamat Almoallem Mohammed HMiriam BauwensSOPHIE WALRAEDTPatricia DelbekeJulie De ZaeytijdPhilippe KestelynFrançoise MeireSandra JanssensCaroline Van CauwenberghHannah Verdin et al.

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 VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren E Heath et al.

A1 Journal Article in SCIENTIFIC REPORTS

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

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath et al.

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

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenJosé Luis Gómez-Skarmeta et al.

Submicroscopic deletions at 13q32.1 cause congenital microcoria

Lucas Fares-TaieSylvie GerberAkihiko TawaraArturo Ramirez-MirandaJean-Yves DouetHannah VerdinAntoine GuillouxJuan C ZentenoHiroyuki KondoHugo Moisset et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2014

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

Reena GulatiHannah VerdinDhanapathi HalanaikB Vishnu BhatElfride 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 SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride De Baere

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

Kristof Van SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride 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 SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride 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 SchilMarcus KarlstetterFrançoise MeireMiriam BauwensHannah VerdinFrauke CoppietersEva ScheiffertNicolas DeconinckThomas LangmannElfride 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 LefeverNouha Bouayed AbdelmoulaFanny Depasse et al.

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 VerdinElena A SorokinaFrançoise MeireIngele CasteelsThomy de RavelElena V SeminaElfride 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

Erwin BrosensElisabeth M de JongTahsin Stefan BarakatBert H EussenBarbara D'haeneElfride De BaereHannah VerdinPino J PoddigheRobert-Jan GaljaardJoost Gribnau et al.

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 VerdinAna Fernández-MiñánKim De LeeneerLiza BormsSandra JanssensBert CallewaertFransiska MalfaitAriana KariminejadKATHLEEN DE WAELEInge François et al.

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 SchilThomy De RavelBart LeroyHannah VerdinFrauke CoppietersFrançoise MeireElfride De Baere

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

Kristof Van SchilFrançoise MeireThomy De RavelBart 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 SchilThomy De RavelBart LeroyHannah VerdinFrauke CoppietersFrançoise MeireElfride De Baere

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

Kristof Van SchilFrançoise MeireThomy De RavelBart 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 BeysenYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudio MB CarvalhoJames R Lupski et al.

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 BeysenYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudia CarvalhoJames Lupski et al.

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

Stacy ZahanovaBrandon MeaneyBeata ŁabieniecHannah VerdinElfride De BaereMalgorzata JM Nowaczyk

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 VerdinFrançoise MeireElfride 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 VerdinFrançoise MeireElfride 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 VerdinFrançoise MeireElfride 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

Alireza HaghighiHannah VerdinHamidreza Haghighi-KakhkiNiloofar PiriNasrollah Saleh GohariElfride 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'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

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

Hannah VerdinBarbara D'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

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

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn 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'haeneYana NovikovaDiane BeysenPablo LapunzinaJulian NevadoClaudia CarvalhoJames LupskiBjörn MentenElfride De Baere

2010

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

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn 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