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Researcher
Ilse Meerschaut
Profile
Projects
Publications
Activities
Awards & Distinctions
24
Results
2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
Gerarda Cappuccio
Nicola Brunetti‐Pierri
Paul Clift
Christopher Learn
John C. Dykes
Catherine L. Mercer
Bert Callewaert
Ilse Meerschaut
Alessandro Mauro Spinelli
Irene Bruno
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2022
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
Ilse Meerschaut
Wouter Steyaert
Thierry Bové
Katrien Francois
Thomas Martens
Katya De Groote
Hans De Wilde
Laura Muiño Mosquera
Joseph Panzer
Kristof Vandekerckhove
et al.
A1
Journal Article
in
GENES
2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Nancy Vegas
Zeynep Demir
Christopher T. Gordon
Sylvain Breton
Vanessa L. Romanelli Tavares
Hugo Moisset
Roseli Zechi‐Ceide
Nancy M. Kokitsu‐Nakata
Yasuhiro Kido
Sandrine Marlin
et al.
A1
Journal Article
in
HUMAN MUTATION
2022
2021
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
Ilse Meerschaut
Sarah Vergult
Annelies Dheedene
Björn Menten
Katya De Groote
Hans De Wilde
Laura Muiño Mosquera
Joseph Panzer
Kristof Vandekerckhove
Paul Coucke
et al.
A1
Journal Article
in
GENES
2021
Expanding the phenotypic and molecular landscape of syndromic and isolated congenital heart defects : a future for phenotype-first and genotype-first approaches
Ilse Meerschaut
Bert Callewaert
Daniël De Wolf
Dissertation
2021
2020
A clinical scoring system for congenital contractural arachnodactyly
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
Angela Barnicoat
Allan Bayat
Francesco Benedicenti
Siren Berland
Edward M. Blair
Jeroen Breckpot
Anna de Burca
et al.
A1
Journal Article
in
GENETICS IN MEDICINE
2020
2019
Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
Ilse Meerschaut
Aude Beyens
Wouter Steyaert
Riet De Rycke
Katrien Bonte
Tine De Backer
Sandra Janssens
Joseph Panzer
Frank Plasschaert
Daniël De Wolf
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2019
Two novel probands with Myhre syndrome identified through WES
Ilse Meerschaut
Aude Beyens
Wouter Steyaert
Riet De Rycke
Björn Menten
Katrien Bonte
Tine De Backer
Sandra Janssens
Fransiska Malfait
Joseph Panzer
et al.
C3
Conference
2019
2018
De gevolgen van FOXP1-mutaties : meer dan verstandelijke beperking en taalontwikkelingsstoornissen alleen
Ilse Meerschaut
Bert Callewaert
A4
Journal Article
in
NEURON (NEDERLANDSE ED.)
2018
Delineation of a clinical scoring system and diagnostic criteria for CCA
Ilse Meerschaut
Shana De Coninck
Annelies Matthys
Bjorn Tuytens
Wouter Steyaert
Daniël De Wolf
Frank Plasschaert
Paul Coucke
Anne De Paepe
Sofie Symoens
et al.
C3
Conference
2018
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 Mosquera
Felke Steijns
Tjorven Audenaert
Ilse Meerschaut
Anne De Paepe
Wouter Steyaert
Sofie Symoens
Paul Coucke
Bert Callewaert
Marjolijn Renard
et al.
A1
Journal Article
in
CIRCULATION-GENOMIC AND PRECISION MEDICINE
2018
2017
Congenital contractural arachnodactyly : delineation of clinical criteria
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
S Garcia Minaur
JC Oosterwijk
R Igbokwe
M Suri
A Bayat
G Jones
CI Dali
et al.
C3
Conference
2017
Congenital contractural arachnodactyly : delineation of clinical criteria
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
S Garcia Minaur
JC Oosterwijk
R Igbokwe
M Suri
A Bayat
G Jones
CI Dali
et al.
C3
Conference
2017
FOXP1-related intellectual disability syndrome : a recognisable entity
Ilse Meerschaut
Daniel Rochefort
Nicole Revençu
Justine Pètre
Christina Corsello
Guy A Rouleau
Fadi F Hamdan
Jacques L Michaud
Jenny Morton
Jessica Radley
et al.
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2017
Myhre syndrome : broadening the phenotypic spectrum
Ilse Meerschaut
Sandra Janssens
Wouter Steyaert
Joseph Panzer
Katrien Francois
Frank Plasschaert
Katrien Bonte
Tine De Backer
Paul Coucke
Daniël De Wolf
et al.
C3
Conference
2017
Myhre syndrome : broadening the phenotypic spectrum
Ilse Meerschaut
Sandra Janssens
Wouter Steyaert
Joseph Panzer
Katrien François
Frank Plasschaert
Katrien Bonte
Tine De Backer
Paul Coucke
Daniël De Wolf
et al.
C3
Conference
2017
2016
Congenital contractural arachnodactyly
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
S Garcia Minaur
JC Oosterwijk
R Igbokwe
M Suri
A Bayat
G Jones
CI Dali
et al.
C3
Conference
2016
Congenital contractural arachnodactyly : delineation of clinical criteria
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
S Garcia Minaur
JC Oosterwijk
R Igbokwe
M Suri
A Bayat
G Jones
CI Dali
et al.
C3
Conference
2016
Congenital contractural arachnodactyly: delineation of clinical criteria and confirmation of genetic heterogeneity
Ilse Meerschaut
Bert Callewaert
C3
Conference
2016
FOXP1-related intellectual disability syndrome : a recognizable entity
Ilse Meerschaut
J Pètre
N Revencu
NELE BOCKAERT
Ann Oostra
Olivier Vanakker
M Velinov
TJ de Ravel
D Mekahli
KK Vaux
et al.
C3
Conference
2016
FOXP1-related intellectual disability syndrome: a recognizable entity
Ilse Meerschaut
Justine Pètre
Nicole Revencu
Damien Lederer
Milen Vilenov
Thomy de Ravel
Djalila Mekahli
Keith Vaux
Jonathan Sebat
Fadi Hamdan
et al.
C3
Conference
2016
FOXP1-related intellectual disability syndrome: a recognizable entity
Ilse Meerschaut
Justine Pètre
Nicole Revencu
Damien Lederer
Milen Vilenov
Thomy de Ravel
Djalila Mekahli
Keith Vaux
Jonathan Sebat
Fadi Hamdan
et al.
C3
Conference
2016
2015
Acute ataxie: een zeldzame diagnose?
Ilse Meerschaut
Herman Fivez
Michaela Maes
A2
Journal Article
in
TIJDSCHRIFT VOOR GENEESKUNDE
2015
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
Ilse Meerschaut
Victoria Bordon Maria
Catharina Dhooge
Patricia Delbeke
Arnaud Vanlander
Amos Simon
Christoph Klein
R Frank Kooy
Raz Somech
Bert Callewaert
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2015