Research Explorer

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Researcher

Ilse Meerschaut

Awards & Distinctions

28 Results

2024

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Eva VanbelleghemTim Van DammeAude BeyensSofie SymoensKathleen ClaesJulie De BackerIlse MeerschautFloris VanommeslaegheSigurd DelangheJenneke van den Ende et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Success rate of primary percutaneous balloon angioplasty in children with pulmonary stenosis and Noonan syndrome

Lukas RubbensLaura Muiño MosqueraJoseph PanzerDaniël De WolfHans De WildeKatya De GrooteIlse MeerschautWendy De WalsLuc BruyndonckxKristof Vandekerckhove et al.

A2 Journal Article in BELGIAN JOURNAL OF PAEDIATRICS

The effect of statins on vascular function in adolescents with familial hypercholesterolemia : a literature review

Astrid De WolfWillem StaelsIlse MeerschautDaniël De WolfJesse VanbesienElise NauwynckInge GiesJean De Schepper

A4 Journal Article in CARDIOLOGY AND CARDIOVASCULAR MEDICINE

2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. SheppardLaura BryantRochelle N. WickramasekaraCourtney VaccaroBrynn RobertsonJodi HallgrenJason HulenCynthia J. WatsonVictor FaundesYannis Duffourd et al.

A1 Journal Article in SCIENCE ADVANCES

2022

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Gerarda CappuccioNicola Brunetti‐PierriPaul CliftChristopher LearnJohn C. DykesCatherine L. MercerBert CallewaertIlse MeerschautAlessandro Mauro SpinelliIrene Bruno et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse MeerschautWouter SteyaertThierry BovéKatrien FrancoisThomas MartensKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof Vandekerckhove et al.

A1 Journal Article in GENES

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy VegasZeynep DemirChristopher T. GordonSylvain BretonVanessa L. Romanelli TavaresHugo MoissetRoseli Zechi‐CeideNancy M. Kokitsu‐NakataYasuhiro KidoSandrine Marlin et al.

A1 Journal Article in HUMAN MUTATION

2021

A reassessment of copy number variations in congenital heart defects : picturing the whole genome

Ilse MeerschautSarah VergultAnnelies DheedeneBjörn MentenKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof VandekerckhovePaul Coucke et al.

A1 Journal Article in GENES

Expanding the phenotypic and molecular landscape of syndromic and isolated congenital heart defects : a future for phenotype-first and genotype-first approaches

Ilse MeerschautBert CallewaertDaniël De Wolf

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertAngela BarnicoatAllan BayatFrancesco BenedicentiSiren BerlandEdward M. BlairJeroen BreckpotAnna de Burca et al.

A1 Journal Article in GENETICS IN MEDICINE

2019

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

De gevolgen van FOXP1-mutaties : meer dan verstandelijke beperking en taalontwikkelingsstoornissen alleen

Ilse MeerschautBert Callewaert

A4 Journal Article in NEURON (NEDERLANDSE ED.)

Delineation of a clinical scoring system and diagnostic criteria for CCA

Ilse MeerschautShana De ConinckAnnelies MatthysBjorn TuytensWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie Symoens et al.

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Laura Muiño MosqueraFelke SteijnsTjorven AudenaertIlse MeerschautAnne De PaepeWouter SteyaertSofie SymoensPaul CouckeBert CallewaertMarjolijn Renard et al.

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

2017

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

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

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.

2016

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly: delineation of clinical criteria and confirmation of genetic heterogeneity

Ilse MeerschautBert Callewaert

FOXP1-related intellectual disability syndrome : a recognizable entity

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

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi Hamdan et al.

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi Hamdan et al.

2015

Acute ataxie: een zeldzame diagnose?

Ilse MeerschautHerman FivezMichaela Maes

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation

Ilse MeerschautMaria Bordon Cueto De BraemCatharina DhoogePatricia DelbekeArnaud VanlanderAmos SimonChristoph KleinR Frank KooyRaz SomechBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A