Research Explorer

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Researcher

Olivier Vanakker

Awards & Distinctions

165 Results

2023

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancLauren VersluysKE CopleyJD RubienC AltheimerMyra PeetermansElke Debackere et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects

Aude BeyensCharlotte LietaerKathleen ClaesElfride De BaereMarleen GoeteynBob LerutHannes SyrynOlivier VanakkerJoni Van der MeulenLieve Vanwalleghem et al.

A1 Journal Article in CLINICAL GENETICS

Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes

Annelies DheedeneErika D'haenensEvelien PouillieSarah DelbaereOlivier VanakkerBert CallewaertBjörn Menten

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Matthias Van GilsJustin DepauwPaul CouckeShari AertsShana VerschuereLukas NolletOlivier Vanakker

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

Methylation signatures in clinically variable syndromic disorders: a familial <i>DNMT3A</i> variant in two adults with Tatton-Brown-Rahman syndrome

Candy KumpsErika D'haenensJennifer KerkhofHaley McconkeyMarielle AldersBekim SadikovicOlivier Vanakker

Editorial material

On the phenotype and pathogenesis of ectopic calcification diseases using pseudoxanthoma elasticum as a model

Lukas NolletOlivier Vanakker

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De Backer et al.

Significance of premature vertebral mineralization in zebrafish models in mechanistic and pharmaceutical research on hereditary multisystem diseases

Judith Van WynsbergheOlivier Vanakker

A1 Journal Article in BIOMOLECULES

The Abcc6a knockout zebrafish model as a novel tool for drug screening for pseudoxanthoma elasticum

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

The activation of JAK/STAT3 signaling and the complement system modulate inflammation in the primary human dermal fibroblasts of PXE patients

Christopher LindenkampRicarda PluemersMichel R. OsterhageOlivier VanakkerJudith Van WynsbergheCornelius KnabbeDoris Hendig

A1 Journal Article in BIOMEDICINES

The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization

Lisa DangreauLukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Valuable insights after one year whole exome sequencing in a fetal/prenatal setting

Sarah DelbaereMachteld BaetensCandy KumpsEllen RoetsNOORTJE VAN OOSTRUMBert CallewaertSandra JanssensOlivier VanakkerBjörn Menten

2022

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancL VersluysElke DebackereOlivier VanakkerSara JanssensJonathan BaetsK Verhoeven et al.

Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

Lukas NolletLaurence CampensJulie De ZaeytijdBart LeroyDimitri HemelsoetPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Minocycline attenuates excessive DNA damage response and reduces ectopic calcification in pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Minocycline counteracts ectopic calcification in a murine model of pseudoxanthoma elasticum

Elise BouderliqueLukas NolletEllie TangJeremy ZaworskiLetavernier EmmanuelOlivier Vanakker

Minocycline counteracts ectopic calcification in a murine model of pseudoxanthoma elasticum : a proof-of-concept study

Elise BouderliqueLukas NolletEmmanuel LetavernierOlivier Vanakker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mitochondrial dysfunction and oxidative stress in hereditary ectopic calcification diseases

Lukas NolletOlivier Vanakker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients

Matthias Van GilsJustin DepauwShana VerschuereLukas NolletOlivier Vanakker

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De Backer et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Flora SzeriAgnes MikoNastassia NavasiolavaAmbrus KaposiShana VerschuereBeatrix MolnarQiaoli LiSharon F. TerryFederica BoraldiJouni Uitto et al.

A1 Journal Article in HUMAN MUTATION

The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization

Lisa DangreauLukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study

Saku PelttariSuvi VaaramakiOlivier VanakkerShana VerschuereHannu UusitaloHeini HuhtalaTero HinkkaIlkka PorstiI Nevalainen, Pasi

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2021

Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model

Wouter SteyaertShana VerschuerePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF GENETICS AND GENOMICS

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons (Jun, 10.1038/s41380-021-01234-7. 2021)

Karen RungeRemi MathieuStephane BugeonSahra LafiCorinne BeurrierSurajit SahuFabienne SchallerArthur LoubatLeonard HeraultStephane Gaillard et al.

Explaining disease variability in Pseudoxanthoma elasticum and related disorders

Eva De VilderOlivier VanakkerBart Leroy

Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation

Mohammad Jakir HosenSaeed AnwarJarin Taslem MourosiSourav ChakrabortyMd. Faruque MiahOlivier Vanakker

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice

Bettina IboldJanina TiemannIsabel FaustUta CeglarekJullia DittrichTheo GorgelsArthur BergenOlivier VanakkerMatthias Van GilsCornelius Knabbe et al.

A1 Journal Article in SCIENTIFIC REPORTS

Genotype-phenotype correlation in pseudoxanthoma elasticum

Jonas W. BartstraSara RisseeuwPim A. de JongBram van OsLianne KalsbeekChris MolAnnette F. BaasShana VerschuereOlivier VanakkerRalph J. Florijn et al.

A1 Journal Article in ATHEROSCLEROSIS

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype

Matthias Van GilsJustin DepauwPaul CouckeShana VerschuereLukas NolletOlivier Vanakker

Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah DuerinckxJulie DésirCamille PerazzoloCindy BadoerValérie JacqueminJulie SobletIsabelle MaystadtYusuf TuncaBettina BlaumeiserBerten Ceulemans et al.

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Candy KumpsErika D'haenensSarah VergultJasmine LeusRudy Van CosterAnna JansenKoen DevriendtAnna OostraOlivier Vanakker

A1 Journal Article in CLINICAL GENETICS

Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the cardio(vascular) phenotype

Matthias Van GilsJustin DepauwShana VerschuereLukas NolletOlivier Vanakker

Rare modifier variants alter the severity of cardiovascular disease in pseudoxanthoma elasticum : identification of novel candidate modifier genes and disease pathways through mixture of effects analysis

Eva De VilderLudovic MartinGeorges LefthériotisPaul CouckeFilip Van NieuwerburghOlivier Vanakker

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Shana VerschuereNastassia NavassiolavaLudovic MartinPasi I. NevalainenPaul CouckeOlivier Vanakker

A1 Journal Article in GENETICS IN MEDICINE

2020

Cellular and molecular biomarkers indicate premature aging in pseudoxanthoma elasticum patients

Janina TiemannThomas WagnerOlivier VanakkerMatthias Van GilsJose-Luis Bueno CabreraBettina IboldIsabel FaustCornelius KnabbeDoris Hendig

A1 Journal Article in AGING AND DISEASE

Chikungunya outbreak in Bangladesh (2017) : clinical and hematological findings

Saeed AnwarJarin Taslem MourosiFahim KhanMohammad Ohid UllahOlivier VanakkerMohammad Jakir Hosen

A1 Journal Article in PLOS NEGLECTED TROPICAL DISEASES

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.

From membrane to mineralization : the curious case of the ABCC6 transporter

Shana VerschuereMatthias Van GilsLukas NolletOlivier Vanakker

A1 Journal Article in FEBS LETTERS

Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum

Norbert KissLuca FésűsSzabolcs BozsányiFlóra SzeriMatthias Van GilsViktória SzabóAnikó Ilona NagyBernadett HidvégiRóbert SzipőcsLudovic Martin et al.

A1 Journal Article in LASERS IN MEDICAL SCIENCE

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestréeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

A1 Journal Article in GENETICS IN MEDICINE

Primaire ectopische mineralisatieaandoeningen : van (vaat)verkalking tot syndroom

Lukas NolletAndreas DecockEva De VilderOlivier Vanakker

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the (cardio)vascular phenotype.

Matthias Van GilsJustin DepauwShana VerschuereLukas NolletOlivier Vanakker

Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB : transient improvement in ectopic calcification with sodium thiosulfate

L. OmarjeeY. NitschkeShana VerschuereE. BourratM. D. VignonN NavasiolavaG. LeftheriotisG. KauffensteinF. RutschOlivier Vanakker et al.

A1 Journal Article in BRITISH JOURNAL OF DERMATOLOGY

The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

Flora SzeriAgnes MikoNastassia NavasiolavaAmbrus KaposiShana VerschuereQiaoli LiSharon F. TerryFederica BoraldiJouni UittoKoen van de Wetering et al.

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

A1 Journal Article in CLINICAL GENETICS

2019

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

Simon LamquetEliana M RamosAndrea LegatiGiovanni CoppolaDimitri HemelsoetOlivier Vanakker

A1 Journal Article in ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Cellular signaling in pseudoxanthoma elasticum : an update

Matthias Van GilsLukas NolletEwout VerlyNancy DeianovaOlivier Vanakker

A1 Journal Article in CELLULAR SIGNALLING

Chikungunya outbreak in Bangladesh (2017) : clinical and hematological findings

Saeed AnwarJarin Taslem MourosiFahim KhanMohammad Ohid UllahOlivier VanakkerMohammad Jakir Hosen

Compound screening for PXE using a zebrafish abcc6a CRISPR/Cas9 mutant model : a proof-of-concept study

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Compound screening for PXE using zebrafish abcc6a mutant models

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Compound screening for PXE using zebrafish abcc6a mutant models

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum

Shana VerschuerePaul CouckeOlivier Vanakker

Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum

Shana VerschuerePaul CouckeOlivier Vanakker

Endogenous calcification inhibitors in the prevention of vascular calcification : a consensus statement from the COST Action EuroSoftCalcNet

Magnus BäckTamas AranyiM Leonor CancelaMiguel CarracedoNatércia ConceiçãoGeorges LeftheriotisVicky MacraeLudovic MartinYvonne NitschkeAndreas Pasch et al.

A1 Journal Article in FRONTIERS IN CARDIOVASCULAR MEDICINE

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestreeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review

Sara DavidKATHLEEN DE WAELEBram De WildeFranny FaesOlivier VanakkerSOPHIE WALRAEDTAgnieszka Prytula-Ebels

A1 Journal Article in ACTA CLINICA BELGICA

Internal carotid artery hypoplasia : a new clinical feature in pseudoxanthoma elasticum

Loukman OmarjeeJacques-Olivier FortratAntoine LarraldeEstelle Le PabicGilles KauffensteinMaxence LaotNastassia NavasiolavaPierre-Jean MentionJuan Luis Carrillo LinaresPedro Valdivielso et al.

A1 Journal Article in JOURNAL OF STROKE

Morpholino-mediated gene knockdown in zebrafish : it is all about dosage and validation

Matthias Van GilsOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities

Machteld BaetensTom SanteSarah VergultM. De SmetS. JanssensOlivier VanakkerBert CallewaertBruce PoppeAnnelies DheedeneBjörn Menten

Plasma inorganic pyrophosphate and alkaline phosphatase in patients with pseudoxanthoma elasticum

Ana María Sánchez-TévarMaría García-FernándezBelén Murcia-CasasJosé Rioja-VillodresJuan Luis CarrilloMarta CamachoMatthias Van GilsMiguel Angel Sánchez-ChaparroOlivier VanakkerPedro Valdivielso

A1 Journal Article in ANNALS OF TRANSLATIONAL MEDICINE

Targeted compound screening for PXE using CRISPR/Cas9 abcc6a mutant zebrafish model

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype

Eva De VilderL. MartinG. LeftheriotisPaul CouckeAnne De PaepeFilip Van NieuwerburghOlivier Vanakker

The role of vitamin K and its related compounds in Mendelian and acquired ectopic mineralization disorders

Lukas NolletMatthias Van GilsShana VerschuereOlivier Vanakker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

2018

A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment : BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)

Olivier S DescampsOlivier Van CaenegemMichel P HermansJean-Luc BalligandChristophe BeauloyeAntoine BondueStephane CarlierEmilie CastermansFabien ChenotMarc Claeys et al.

A1 Journal Article in ATHEROSCLEROSIS

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

M. Felicia BasilicataAnge-Line BruelGiuseppe SemplicioClaudia Isabelle Keller ValsecchiTuğçe AktaşYannis DuffourdTobias RumpfJenny MortonIben BacheWitold G. Szymanski et al.

A1 Journal Article in NATURE GENETICS

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Kate WolfeAndrew McQuillinViola AlesiElise Boudry LabisPeter CutajarBruno DallapiccolaMaria Lisa DenticiAnne Dieux-CoeslierBenedicte Duban-BeduTina Duelund Hjortshøj et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Generation and validation of a complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Generation and validation of a complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of ABCC6A in zebrafish

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Interpreting genetic variants in titin in patients with muscle disorders

Marco SavareseLorenzo MaggiAnna ViholaPer Harald JonsonGiorgio TascaLucia RuggieroLuca BelloFrancesca MagriTeresa GiuglianoAnnalaura Torella et al.

A1 Journal Article in JAMA NEUROLOGY

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

Eva De VilderSTEFANIE CARDOENMohammad J HosenOlivier Le SauxJulie De ZaeytijdBart LeroyJacques De ReuckPaul CouckeAnne De PaepeDimitri Hemelsoet et al.

A1 Journal Article in BRAIN PATHOLOGY

Primary brain calcification : an international study reporting novel variants and associated phenotypes

Eliana Marisa RamosMiryam CarecchioRoberta LemosJoana FerreiraAndrea LegatiRenee Louise SearsSandy Chan HsuCeleste PanteghiniLuca MagistrelliEttore Salsano et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Joke MuysBettina BlaumeiserYves JacquemynClaude BandelierNathalie BrisonSaskia BulkPatrizia ChiarappaWinnie CourtensAnne De LeenerMarjan De Rademaeker et al.

A1 Journal Article in PRENATAL DIAGNOSIS

2017

FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse MeerschautDaniel RochefortNicole RevençuJustine PètreChristina CorselloGuy A RouleauFadi F HamdanJacques L MichaudJenny MortonJessica Radley et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations

Eva De VilderJens DebackerOlivier Vanakker

GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations

Eva De VilderJens DebackerOlivier Vanakker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Muscular heterotopic calcification with ulcerating skin lesions : a case report

Matthias Van GilsMohammad Jakir HosenTithi RoySrizon Roy TirthoOlivier Vanakker

2016

'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

Paul KollmannAndré PeetersOlivier VanakkerYves Sznajer

A1 Journal Article in JOURNAL OF NEUROLOGY

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Keiko ShimojimaSatoshi NaraiMasami TogawaTomotsune DoumotoNoriko SanguOlivier VanakkerAnne De PaepeMatthew EdwardsJohn WhitehallSally Brescianini et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management

Eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

FOXP1-related intellectual disability syndrome : a recognizable entity

Ilse MeerschautJ PètreN RevencuNELE BOCKAERTAnn OostraOlivier VanakkerM VelinovTJ de RavelD MekahliKK Vaux et al.

Fibroblasts in soft tissue mineralization display an osteogenic expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad HosenPaul CouckeOlivier Le SauxAnne De PaepeOlivier Vanakker

Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad Jakir HosenPaul CouckeOlivier LeSauxAnne De PaepeOlivier Vanakker

Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad HosenPaul CouckeOlivier LeSauxAnne De PaepeOlivier Vanakker

Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis

Aimee L FenwickMaciej KliszczakFay CooperJennie MurrayLuis Sanchez-PulidoStephen RF TwiggAnne GorielySimon J McGowanKerry A MillerIndira B Taylor et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Phenotype of a Belgian family with 6p25 deletion syndrome

NICOLE WEEGERINKFreya SwinnenOlivier VanakkerJan W CasselmanIngeborg Dhooge

A1 Journal Article in ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Stickler syndrome: comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

2015

Anti-VEGF treatment in Pseudoxanthoma elasticum: preliminary results of a long-term ophthalmological follow-up

Eva De VilderJulie De ZaeytijdBart LeroyOlivier Vanakker

Clinical zinc deficiency as early presentation of Wilson disease

Stephanie Van BiervlietSébastien KüryRuth De BruyneOlivier VanakkerSébastien SchmittSaskia Vande VeldeEric BlouinStéphane Bézieau

A1 Journal Article in JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Efficiency of exome sequencing for the molecular diagnosis and modifier gene identification in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenOlivier Vanakker

Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum

Mohammad Jakir HosenFilip Van NieuwerburghWouter SteyaertDieter DeforceLudovic MartinGeorges LeftheriotisAnne De PaepePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders

Eva De VilderOlivier Vanakker

A1 Journal Article in WORLD JOURNAL OF CLINICAL CASES

Huge variability in a huge gene: TTN variants identified in a large NGS-resequencing project

M SavareseA EvilaG Di FruscioA ViholaA TorellaG TascaF MagriSandra JanssensL RuggieroKathleen Claes et al.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea LegatiDonatella GiovanniniGaël NicolasUriel López-SánchezBeatriz QuintansJoão RM OliveiraRenee L SearsEliana Marisa RamosElizabeth SpiteriMaria-Jesús Sobrido et al.

A1 Journal Article in NATURE GENETICS

Novel insights in the pathogenesis of pseudoxanthoma elasticum

Mohammad Jakir HosenAnne De PaepeOlivier Vanakker

Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach

Eva De VilderMohammad Jakir HosenPaul CouckeAnne De PaepeAriana KariminejadGeorges LefthériotisFilip Van NieuwerburghLudovic MartinOlivier Vanakker

Redefining the MED13L syndrome

Abidemi AdegbolaLuciana MusanteBert CallewaertPatricia MacielHao HuBertrand IsidorSylvie Picker-MinhCedric Le CaignecBarbara Delle ChiaieOlivier Vanakker et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

The ABCC6 transporter as a paradigm for networking from an orphan disease to complex disorders

Eva De VilderMohammad Jakir HosenOlivier Vanakker

A1 Journal Article in BIOMED RESEARCH INTERNATIONAL

The genetics of soft connective tissue disorders

Olivier VanakkerBert CallewaertFransiska MalfaitPaul Coucke

A1 Journal Article in Annual Review of Genomics and Human Genetics

Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum

Eva De VilderFilip Van NieuwerburghDieter DeforceLudovic MartinGeorges LefthériotisPaul CouckeAnne De PaepeOlivier Vanakker

Whole exome sequencing as a novel tool for the detection of modifier genes in pseudoxanthoma elasticum

Eva De VilderFilip Van NieuwerburghDieter DeforceLudovic MartinGeorges LefthériotisAnne De PaepeOlivier Vanakker

2014

Acral acquired cutis laxa associated with IgA multiple myeloma, joint hyperlaxity and urticarial neutrophilic dermatosis

Nicolas KlugerJean-Pierre MolèsOlivier VanakkerCharlotte PernetMarie Beylot-BarryDidier Bessis

Editorial material

Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

Frederica BoraldiSonia CostaClaudio RabacchiMiriam CianiOlivier VanakkerDaniela Quaglino

A2 Journal Article in MOLECULAR GENETICS AND METABOLISM REPORTS

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Barbara Oehl-JaschkowitzOlivier VanakkerAnne De PaepeBjörn MentenThomas MartinGeorg WeberAlexander ChristmannRomain KrierSimone ScheidSusan E McNerlan et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Olivier VanakkerCatheline VilainKatrien JanssensNathalie Van der AaGuillaume SmitsClaude BandelierBettina BlaumeiserSaskia BulkJean-Hubert CabergAnne De Leener et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication

Sabine VerbeekOlivier VanakkerRudy MercelisAF LipkaFilomeen HaerynckMelissa DullaersPATRICK VERLOORudy Van CosterHelene Verhelst

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMarkus J van RoosmalenKaren Duran et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter

Mohammad Jakir HosenAbdullah ZubaerSimrika ThapaBijendra KhadkaAnne De PaepeOlivier Vanakker

A1 Journal Article in PLOS ONE

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

Mohammad Jakir HosenPaul CouckeOlivier Le SauxAnne De PaepeOlivier Vanakker

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations

Ariana KariminejadBita BozorgmehrAbdolhamid NajafiAtefeh KhoshaeenMaryam GhalandariHossein NajmabadiMohamad Hasan KariminejadOlivier VanakkerMohammad Jakir HosenFransiska Malfait et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

2013

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Laurence CampensOlivier VanakkerBram TrachetPatrick SegersBart LeroyJulie De ZaeytijdDirk VoetAnne De PaepeTine De BackerJulie De Backer

A1 Journal Article in ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Bert CallewaertChi-Ting SuTim Van DammePhilip VlummensFransiska MalfaitOlivier VanakkerBianca SchulzMeghan Mac NealElaine C DavisJoseph GH Lee et al.

A1 Journal Article in HUMAN MUTATION

Coordinated orphan disease research : yes, we can!

Olivier Vanakker

Editorial material

Ectopic soft tissue calcification: process, determinants and health impact

Olivier VanakkerMohammad Jakir HosenAnne De Paepe

Bookchapter in Calcification : processes, determinants and health impact

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Gea BeundersEls VoorhoeveChristelle GolzioLuba M PardoJill A RosenfeldMichael E TalkowskiIngrid SimonicAnath C LionelSarah VergultRobert E Pyatt et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

Pharmacogenomics in children: advantages and challenges of next generation sequencing applications

Olivier VanakkerAnne De Paepe

A2 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRICS

SNX10 mutations define a subgroup of human Autosomal Recessive Osteopetrosis with variable clinical severity

Alessandra PangrazioAnders FasthAndrea SbardellatiPaul J OrchardKimberly A KasowJamal RazaCanan AlbayrakDavut AlbayrakOlivier VanakkerBarbara De Moerloose et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum

Alexander JanssenMohammad Jakir HosenPhilippe JeanninPaul CouckeAnne De PaepeOlivier Vanakker

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The ABCC6 transporter : what lessons can be learnt from other ATP-binding cassette transporters?

Olivier VanakkerMohammad Jakir HosenAnne De Paepe

A2 Journal Article in FRONTIERS IN GENETICS

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-RabiaBert CallewaertEmmanuelle BourratMarlies KempersAstrid S PlompValerie LayetDeborah BartholdiMarjolijn RenardJulie De BackerFransiska Malfait et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Zebrafish models for ectopic mineralization disorders : practical issues from morpholino design to post-injection observations

Mohammad Jakir HosenOlivier VanakkerAndy WillaertAnn HuysseunePaul CouckeAnne De Paepe

A2 Journal Article in FRONTIERS IN GENETICS

2012

Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene

MH TanOlivier VanakkerHV TranAG RobsonJE Lai-CheongR GrovesGE HolderAT Moore

A1 Journal Article in EYE

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie SymoensDelfien SyxFransiska MalfaitBert CallewaertJulie De BackerOlivier VanakkerPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid

Anne De PaepeBert CallewaertLaurence CampensPaul CouckeFransiska MalfaitMarjolijn RenardOlivier VanakkerJulie De BackerLAURENT DEMULIERKatrien Francois et al.

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues

Mohammad Jakir HosenAnouck LamoenAnne De PaepeOlivier Vanakker

A2 Journal Article in SCIENTIFICA (HINDAWI)

Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum

Laurence CampensOlivier VanakkerBram TrachetPatrick SegersAnne De PaepeJulie De Backer

Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum

Laurence CampensOlivier VanakkerBram TrachetPatrick SegersAnne De PaepeJulie De Backer

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

2011

Acquired pseudoxanthoma elasticum presenting after liver transplantation

Lionel BercovitchLudovic MartinNicolas ChassaingTimothy W HefferonDidier BessisOlivier VanakkerSharon F Terry

A1 Journal Article in JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?

Olivier VanakkerBart LeroyLeon J SchurgersCees VermeerPaul CouckeAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage

Olivier VanakkerKris De CoenLaura CostropPaul CouckePiet VanhaesebrouckAnne De Paepe

A1 Journal Article in JOURNAL OF PEDIATRICS

Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Sarah VergultKaren BuysseBarbara Delle ChiaeieSandra JanssensOlivier VanakkerRudy Van CosterAnne De PaepeFranki SpelemanBjörn Menten

Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis

Olivier VanakkerDimitri HemelsoetAnne De Paepe

A2 Journal Article in STROKE RESEARCH AND TREATMENT

Reply to the article of C. Marken et al. entitled 'Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum'

Georges LeftheriotisOlivier VanakkerOlivier Le SauxLudovic Martin

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

Christopher BramptonYukiko YamaguchiOlivier VanakkerLut Van LaerLi-Hsieh ChenManoj ThakoreAnne De PaepeViola PomoziPal T SzaboLudovic Martin et al.

A1 Journal Article in CELL CYCLE

2010

Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum

Julie De ZaeytijdOlivier VanakkerPaul CouckeAnne De PaepeJean DelaeyBart Leroy

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

Olivier VanakkerLudovic MartinLeon J SchurgersDaniela QuaglinoLaura CostropCees VermeerIvonne Pasquali-RonchettiPaul CouckeAnne De Paepe

A1 Journal Article in LABORATORY INVESTIGATION

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Laura CostropOlivier VanakkerLut Van LaerOlivier Le SauxL MartinN ChassaingD GuerraI Pasquali-RonchettiPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF HUMAN GENETICS

2009

Anomalies leading to the mineralization of elastic fibers in pseudoxanthoma elasticum and the PXE-like syndrome

Y Le CorreL MartinOlivier VanakkerL SchurgersD GheduzziC VermeerI Pasquali-RonchettiPaul CouckeAnne De Paepe

Novel clinical and etiopathogenetic findings in Pseudoxanthoma elasticum

Olivier VanakkerAnne De PaepeDirk Matthys

2008

Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Olivier VanakkerBart LeroyPaul CouckeLionel G BercovitchJouni UittoDennis ViljoenSharon F TerryPetra Van AckerDirk MatthysBart Loeys et al.

A2 Journal Article in HUMAN MUTATION

Osteogenesis Imperfecta: klinische en genetische aspecten van de broze botziekte

Olivier VanakkerFransiska MalfaitAnne De Paepe

A4 Journal Article in NEDERLANDS TIJDSCHRIFT VOOR CALCIUM- EN BOTSTOFWISSELING

Pseudoxanthoma elasticum: een metabole bindweefselaandoening

Olivier VanakkerAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

2007

A variant of Ehlers-Danlos manifesting as manic episode

N TurfanerOlivier VanakkerR BayarC IslakF Sipahioglu

A4 Journal Article in CERRAHPAŞA MEDICAL REVIEW

Mutation detection in the ABCC6 gene and analysis in a large international cohort affected by pseudoxanthoma elasticum

EG PfendnerSF TerryS VourthisP McAndrewMR McClainS FrattaA MaraisS HaririPaul CouckeOlivier Vanakker et al.

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Ellen G PfendnerOlivier VanakkerSharon F TerrySophia VourthisPatricia E McAndrewMonica R McClainSarah FrattaAnna-Susan MaraisSusan HaririPaul Coucke et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Isabelle AudoOlivier VanakkerAlaric SmithBart LeroyAnthony G RobsonSharon A JenkinsPaul CouckeAlan C BirdAnne De PaepeGraham E Holder et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

Olivier VanakkerLudovic MartinDealba GheduzziBart LeroyBart LoeysVeronica I GuerciDirk MatthysSharon F TerryPaul CouckeIvonne Pasquali-Ronchetti et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

2006

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

Olivier VanakkerDirk VoetMirko PetrovicFrédérique Van RobaeysBart LeroyPaul CouckeAnne De Paepe

A1 Journal Article in BRITISH JOURNAL OF RADIOLOGY

2003

Left ventricular outflow obstruction in rhabdomyoma of infancy: meta-analysis of the literature

Henri VerhaarenOlivier VanakkerDaniël De WolfBert SuysKatrien FrancoisDirk Matthys

A1 Journal Article in JOURNAL OF PEDIATRICS

2002

Use of an event recorder in the decision for pacemaker implantation in a child with syncope

Henri VerhaarenOlivier VanakkerRudy Van CosterDaniël De WolfKatrien FrancoisDirk Matthys

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

2001

Mucoviscidose en fysieke training : nut van een kortdurend trainingsprogramma

Olivier VanakkerFrans De BaetsH FranckxDirk Matthys

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE