Research Explorer

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Researcher

Sandra Janssens

96 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

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas ClaboutLaurence MaesFrederic AckeWim WuytsKristof Van SchilPaul CouckeSandra JanssensEls De Leenheer

A1 Journal Article in GENES

2022

Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies

Aude BeyensLaure DequekerHilde BremsSandra JanssensHannes SyrynAnne D’HooghePascale De PaepeLieve VanwalleghemAnnelies StockmanElena Vankwikelberge et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Martina MarangoniGuillaume SmitsGilles CeysensElena CostaRobert CoulonCaroline DaelemansCaroline De ConinckSara DerisbourgKalina GajewskaGiulia Garofalo et al.

A1 Journal Article in GENETICS IN MEDICINE

2021

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van den BogaertLore LannooNathalie BrisonVincent GatinoisMachteld BaetensBettina BlaumeiserFrancois BoemerLaura BourlardVincent BoursAnne De Leener et al.

A1 Journal Article in GENETICS IN MEDICINE

Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations

Margot van RielNathalie BrisonMachteld BaetensBettina BlaumeiserFrancois BoemerLaura BourlardSaskia BulkAnne De LeenerJulie DesirKoenraad Devriendt et al.

A1 Journal Article in OBSTETRICS AND GYNECOLOGY

2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1

Magdalena KoczkowskaTom CallensYunjia ChenAlicia GomesAlesha D. HicksAngela SharpEric JohnsKim Armfield UhasLinlea ArmstrongKatherine Armstrong Bosanko et al.

A1 Journal Article in HUMAN MUTATION

Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

Joke MuysYves JacquemynBettina BlaumeiserLaura BourlardNathalie BrisonSaskia BulkPatrizia ChiarappaAnne De LeenerMarjan De RademaekerJulie Desir et al.

A1 Journal Article in PRENATAL DIAGNOSIS

2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena KoczkowskaTom CallensAlicia GomesAngela SharpYunjia ChenAlesha D. HicksArthur S. AylsworthAmedeo A. AziziDonald G. BaselGary Bellus et al.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation

Magdalena KoczkowskaTom CallensAlicia GomesAngela SharpYunjia ChenAlesha D HicksArthur S AylsworthAmedeo A AziziDonald G BaselGary Bellus et al.

A1 Journal Article in GENETICS IN MEDICINE

Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeKatrien BonteTine De BackerSandra JanssensJoseph PanzerFrank PlasschaertDaniël De Wolf et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph Panzer et al.

2018

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Edith BonninPauline CabochetteAlessandro FilosaRamona JühlenShoko KomatsuzakiMohammed HezwaniAchim DickmannsValérie MartinelliMarjorie VermeerschLynn Supply et al.

A1 Journal Article in PLOS GENETICS

Expanding the clinical spectrum of biallelic ZNF335 variants

K StouffsAB StergachisT VanderhasseltA DicaSandra JanssensL VandervoreA GheldofO BodamerK KeymolenS Seneca et al.

A1 Journal Article in CLINICAL GENETICS

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Magdalena KoczkowskaYunjia ChenTom CallensAlicia GomesAngela SharpSherrell JohnsonMeng-Chang HsiaoZhenbin ChenMeena BalasubramanianChristopher P Barnett et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients

Cyril MignotAoife C McMahonClaire BarPhilippe M CampeauClaire DavidsonJulien BurattiCaroline NavaMarie-Line JacquemontMarilyn TallotMathieu Milh et al.

A1 Journal Article in GENETICS IN MEDICINE

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

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Przemyslaw SzafranskiEwelina KośmiderQian LiuJustyna A KarolakLauren CurrieSandhya ParkashStephen G KahlerElizabeth RoederRebecca O LittlejohnThomas S DeNapoli et al.

A1 Journal Article in HUMAN MUTATION

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

Attitudes of European geneticists regarding expanded carrier screening

Sandra JanssensDavit ChokoshviliDanya VearsAnne De PaepePascal Borry

A1 Journal Article in JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

Ilse M. van der WerfAnke Van DijckEdwin ReyniersCeline HelsmoortelAjay Anand KumarVera M. KalscheuerArjan P. M. de BrouwerTjitske KleefstraHans van BokhovenGeert Mortier et al.

A1 Journal Article in GENE

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrancoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De Wolf et al.

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrançoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De Wolf et al.

Pre- and post-testing counseling considerations for the provision of expanded carrier screening : exploration of European geneticists’ views

Sandra JanssensDavit ChokoshviliDanya F VearsAnne De PaepePascal Borry

A1 Journal Article in BMC MEDICAL ETHICS

Public views on genetics and genetic testing : a survey of the general public in Belgium

Davit ChokoshviliCarmen BelmansRoxanne PonceletSofie SandersDeborah VaesDanya VearsSandra JanssensIsabelle HuysPascal Borry

A1 Journal Article in GENETIC TESTING AND MOLECULAR BIOMARKERS

Responsible implementation of expanded carrier screening (vol 24, pg e1, 2016)

Lidewij HennemanPascal BorryDavit ChokoshviliMartina C. CornelCarla G. van ElFrancesca ForzanoAlison HallHeidi C. HowardSandra JanssensHulya Kayserili et al.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire RedinHarrison BrandRyan L CollinsTammy KamminElyse MitchellJennelle C HodgeCarrie HanscomVamsee PillalamarriCatarina M SeabraMary-Alice Abbott et al.

A1 Journal Article in NATURE GENETICS

2016

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

Sandra JanssensDavit ChokoshvilliCarmen BinstInge MahieuLidewij HennemanAnne De PaepePascal Borry

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou SommenIsabelle SchrauwenGeert VandeweyerNele BoeckxJason J CorneveauxJenneke van den EndeAn BoudewynsEls De LeenheerSandra JanssensKathleen Claes et al.

A1 Journal Article in HUMAN MUTATION

Designing expanded carrier screening panels : results of a qualitative study with European geneticists

Davit ChokoshviliSandra JanssensDanya VearsPascal Borry

A1 Journal Article in PERSONALIZED MEDICINE

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Annelies DheedeneTom SanteMatthias De SmetJean-François VanbellinghenBernard GrisartSarah VergultSandra JanssensBjörn Menten

A1 Journal Article in PRENATAL DIAGNOSIS

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemyslaw SzafranskiTomasz GambinAvinash V DharmadhikariKadir Caner AkdemirShalini N JhangianiJennifer SchuetteNihal GodiwalaSvetlana A YatsenkoJessica SebastianSuneeta Madan-Khetarpal et al.

A1 Journal Article in HUMAN GENETICS

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.

Responsible implementation of expanded carrier screening

Lidewij HennemanPascal BorryDAVIT CHOKOSHVILIMartina C. CornelCarla G. van ElFrancesca ForzanoAlison HallHeidi C. HowardSandra JanssensHulya Kayserili et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients

Marco SavareseGiuseppina Di FruscioAnnalaura TorellaChiara FiorilloFrancesca MagriMarina FaninLucia RuggieroGiulia RicciGuja AstreaLuigia Passamano et al.

A1 Journal Article in NEUROLOGY

2015

47 patients with FLNA associated periventricular nodular heterotopia

Max LangeBurkhard KasperAxel BohringFrank RutschGerhard KlugerSabine HoffjanStephanie SprangerAnne BehneckeAndreas FerbertAndreas Hahn et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status

Sandra JanssensLouiza KalokairinouDavit ChokoshvilliCarmen BinstInge MahieuLidewij HennemanAnne De PaepePascal Borry

A1 Journal Article in PERSONALIZED MEDICINE

Etiological approach in patients with unidentified hearing loss

Ann DeklerckFrederic AckeSandra JanssensEls De Leenheer

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Sarah VergultAnnelies DheedeneAlfred MeursFranny FaesBertrand IsidorSandra JanssensAgnès GautierCédric Le CaignecBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

Kitiwan RojnueangnitJing XieAlicia GomesAngela SharpTom CallensYunjia ChenYing LiuMeagan CochranMary-Alice AbbottJoan Atkin et al.

A1 Journal Article in HUMAN MUTATION

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.

Mucoviscidose en congenitale bilaterale afwezigheid van vas deferens: één ziekte met twee gezichten?

Hanne DebunneSandra JanssensKathleen ClaesJan Gerris

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Next generation sequencing on patients with LGMD and nonspecific myopathies: findings associated with ANO5 mutations

Marco SavareseGiuseppina Di FruscioGiorgio TascaLucia RuggieroSandra JanssensJan De BleeckerMarc DelpechOlimpia MusumeciAntonio ToscanoCorrado Angelini et al.

A1 Journal Article in NEUROMUSCULAR DISORDERS

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.

Recurrent duplications of 17q12 associated with variable phenotypes

Elyse MitchellAndrew DouglasSusanne KjaegaardBert CallewaertArnaud VanlanderSandra JanssensAmy Lawson YuenCindy SkinnerPinella FaillaAntonino Alberti et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2014

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Paul Daniel BradyBarbara Delle ChiaeieGabrielle ChristenhuszKris DierickxKris Van Den BogaertBjörn MentenSandra JanssensPaul DefoortEllen RoetsELKE SLEURS et al.

A1 Journal Article in GENETICS IN MEDICINE

A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome

Linde De KeyzerEls De LeenheerKathleen ClaesSandra Janssens

A1 Journal Article in GENETIC COUNSELING

Attitudes of health care professionals toward carrier screening for cystic fibrosis: a review of the literature

Sandra JanssensAnne De PaepePascal Borry

A2 Journal Article in JOURNAL OF COMMUNITY GENETICS

Deficient motor timing in children with neurofibromatosis type 1

Julie DebrabantEllen PlasschaertKaren CaeyenberghsGuy VingerhoetsEric LegiusSandra JanssensHilde Van Waelvelde

A1 Journal Article in RESEARCH IN DEVELOPMENTAL DISABILITIES

Disfluency: it is not always stuttering

Marjan CosynsYvonne van ZaalenGeert MortierSandra JanssensAnnelies AmezJohanna Van DammeJohn Van Borsel

A1 Journal Article in CLINICAL GENETICS

Bart DermautSandra JanssensAriane Van TongerlooAnne De Paepe

Bookchapter in Dementie op jonge leeftijd

Etiological approach in unidentified hearing loss suggestive of a genetic cause

Ann DeklerckFrederic AckeSandra JanssensEls De Leenheer

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

Middle and inner ear malformations in two siblings exposed to valproic acid during pregnancy: a case report

Evelyne Van HoutteJan CasselmanSandra JanssensAlexandra De KegelLeen MaesIngeborg Dhooge

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Prenatale diagnostiek van congenitale afwijkingen: multidisciplinaire aanpak

Ellen RoetsSandra JanssensPiet VanhaesebrouckAnne Van MullemSteven WeyersKristien Roelens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

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.

Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases

Ivo KroesSandra JanssensPaul Defoort

A2 Journal Article in FACTS, VIEWS & VISION IN OBGYN

2013

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas SimonisIsabelle MigeotteNelle LambertCamille PerazzoloDeepthi C de SilvaBoyan DimitrovClaudine HeinrichsSandra JanssensBronwyn KerrGeert Mortier et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Stem bij patiënten met neurofibromatose type 1

Marjan CosynsGeert MortierSandra JanssensPaul CorthalsJohn Van Borsel

A2 Journal Article in STEM- SPRAAK- EN TAALPATHOLOGIE

Vrouwenkliniek UZ Gent opent eerste moeilijke-gesprekken-kamer

Sandra JanssensAnnelies Rutten

Article in a newspaper

2012

Articulation in schoolchildren and adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensFamke BogaertStephanie D'HondtJohn Van Borsel

A1 Journal Article in JOURNAL OF COMMUNICATION DISORDERS

Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk MøllerMalgorzata LenartowiczMarie-Therese ZabotArnaud JosianeLydie BurglenChris BennettDaniel RicondaRichard FisherSandra JanssensShehla Mohammed et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Voice-related quality of life in adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensJohn Van Borsel

A1 Journal Article in JOURNAL OF VOICE

2011

Articulation skills of Flemish patients with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensFamke BogaertStephanie D'HondtJohn Van Borsel

Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart

Els De LeenheerSandra JanssensElizaveta PadalkoDelphine LooseBart LeroyIngeborg Dhooge

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

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

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

Jeff M MilunskyTom M MaherGeping P ZhaoZhenyuan WangJohn B MullikenDavid ChitayatMichele ClemensHeather J StalkerMislen BauerMichele Burch et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Klinische en genetische aspecten van het syndroom van Turner

Barbara Delle ChiaeieBjörn MentenAnne De PaepeJean De SchepperSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensKathleen ClaesJohn Van Borsel

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensKathleen ClaesJohn Van Borsel

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Voice characteristics in adults with neurofibromatosis type 1

Marjan CosynsGeert MortierPaul CorthalsSandra JanssensJohn Van Borsel

A1 Journal Article in JOURNAL OF VOICE

2010

Barber-Say syndrome in a father and daughter

Nathalie RochePHILIPPE HOUTMEYERSSandra JanssensPhillip Blondeel

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

Hilde Van EschElisabeth M RosserSandra JanssensIngrid Van IngelghemBart LoeysBjörn Menten

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Preconceptueel en prenataal genetisch advies

Barbara Delle ChiaeieBjörn MentenAnne De PaepeSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Speech disorders in neurofibromatosis type 1: a sample survey

Marjan CosynsLies VandewegheGeert MortierSandra JanssensJohn Van Borsel

A1 Journal Article in INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS

Speech fluency in neurofibromatosis type 1

Marjan CosynsGeert MortierSandra JanssensNidhi SaharanElien StevensJohn Van Borsel

A1 Journal Article in JOURNAL OF FLUENCY DISORDERS

Word-final prolongations in an adult male with neurofibromatosis type 1

Marjan CosynsGeert MortierPaul CorthalsSandra JanssensJohn Van Borsel

A1 Journal Article in JOURNAL OF FLUENCY DISORDERS

Word-final prolongations in an adult male with neurofibromatosis type 1

Marjan CosynsGeert MortierPaul CorthalsSandra JanssensJohn Van Borsel

2009

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Björn MentenKatrien SwertsBarbara Delle ChiaeieSandra JanssensKaren BuysseJan PhilippéFranki Speleman

A1 Journal Article in BMC MEDICAL GENETICS

Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss

AN MhatreSandra JanssensMA NardiY LiAK Lalwani

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

BWM van BonHC MeffordBjörn MentenDA KoolenAJ SharpWM NillesenJW InnisTJL de RavelCL MercerM Fichera et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Het preconceptueel en prenataal advies

Sandra Janssens

A2 Journal Article in PATIENT CARE (BELGIE NEDERLANDSE ED.)

Whole body MR imaging in neurofibromatosis type 1

STEPHEN VAN MEERBEECKKoenraad VerstraeteSandra JanssensGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF RADIOLOGY

2008

PRUNE BELLY ANOMALY ON PRENATAL ULTRASOUND AS A PRESENTING FEATURE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME (EEC)

Sandra JanssensPaul DefoortC VandenbroeckeH SchefferGeert Mortier

A1 Journal Article in GENETIC COUNSELING

2007

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1

Ophélia MaertensSofie De SchepperJo VandesompeleHilde BremsIne HeynsSandra JanssensFranki SpelemanEric LegiusLudwine Messiaen

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Catherine DodéCorinne FouveautGeert MortierSandra JanssensJérôme BertheratJacques MahoudeauMarie-Laure KottlerChristine ChabrolleAntoine GancelInge François et al.

A2 Journal Article in HUMAN MUTATION

2006

Autosomal dominant pseudohypoaldosteronism type 1: Mechanisms, evidence for neonatal lethality, and phenotypic expression in adults

DS GellerJH ZhangMC ZennaroA Vallo-BoadoJ Rodriguez-SorianoL FuruR HawsD MetzgerB BotelhoL Karaviti et al.

A1 Journal Article in JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas: towards an extensive study of the somatic mutation spectrum in neurofibromatosis type 1

Ophélia MaertensHilde BremsJo VandesompeleThomas De RaedtIne HeynsThorsten RosenbaumSofie De SchepperAnne De PaepeGeert MortierSandra Janssens et al.

A1 Journal Article in Human Mutation

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn MentenN MAASB THIENPONTKaren BuysseJo VandesompeleC MELOTTET DE RAVELS VAN VOORENI BALIKOVAL BACKX et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features : a new syndrome?

Linde GoossensSandra JanssensVALERIE MEERSSCHAUTHilde PeetersHugo DevliegerKoen Devriendt

A1 Journal Article in CLINICAL DYSMORPHOLOGY

Wat zit er in mijn genen?

Sandra Janssens

2004

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1

Sofie De SchepperSandra JanssensLudwine MessiaenCaroline van den BroeckeJean Naeyaert

A1 Journal Article in DERMATOLOGY

1998

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Rudy Van CosterSandra JanssensJP MISSONA VERLOESJuliaan Leroy

A1 Journal Article in PRENATAL DIAGNOSIS