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Filip Roelens
Observed names:
F ROELENS,
F. Roelens,
ROELENS F,
ROELENS, F,
Roelens F,
Roelens, Filip
show all 6
Observed institutions:
Centre National de la Recherche Scientifique,
Inserm,
Universitair Ziekenhuis Brussel,
AZ Delta,
Institut du Cerveau,
Université Pierre-et-Marie-Curie,
Algemeen Ziekenhuis Sint-Maria Halle
show all 7
ORCID:
0000-0001-8430-5431
Observed ORCID:
0000-0001-8430-5431
OpenAlex ID:
A5084936482
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
2011
·
Sarah Weckhuysen
, Simone Mandelstam
, et al.
·
Annals of Neurology
·
514
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
2016
·
Claire Redin
, Harrison Brand
, et al.
·
Nature Genetics
·
334
PDF
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
2008
·
Birgit S Budde
, Yasmin Namavar
, et al.
·
Nature Genetics
·
253
Early onset collagen VI myopathies: Genetic and clinical correlations
2010
·
Laura Briñas
, Pascale Richard
, et al.
·
Annals of Neurology
·
138
PDF
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
2009
·
C. Goizet
, A. Boukhris
, et al.
·
Neurology
·
98
Rating scales for dystonia in cerebral palsy: reliability and validity
2010
·
E MONBALIU
, E ORTIBUS
, et al.
·
Developmental Medicine & Child Neurology
·
90
PDF
Redefining the MED13L syndrome
2015
·
Abidemi Adegbola
, Luciana Musante
, et al.
·
European Journal of Human Genetics
·
89
PDF
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
2005
·
Betti Giusti
, Laura Lucarini
, et al.
·
Annals of Neurology
·
78
Folate Receptor Autoantibodies and Spinal Fluid 5-Methyltetrahydrofolate Deficiency in Rett Syndrome
2007
·
V. Ramaekers
, J. Sequeira
, et al.
·
Neuropediatrics
·
63
PDF
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
2014
·
Nathalie Fieremans
, Marijke Bauters
, et al.
·
Human Genetics
·
61
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
2014
·
Nina De Rocker
, Sarah Vergult
, et al.
·
Genetics in Medicine
·
58
PDF
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
2017
·
Laura Vandervore
, Katrien Stouffs
, et al.
·
Journal of Medical Genetics
·
47
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
2017
·
Silke Appenzeller
, Rudi Balling
, et al.
·
The American Journal of Human Genetics
·
47
PDF
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
2020
·
Francesca Cristofoli
, Tonya Moss
, et al.
·
The American Journal of Human Genetics
·
45
PDF
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
2021
·
Matthias Sauter
, Elena Belousova
, et al.
·
Orphanet Journal of Rare Diseases
·
43
PDF
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
2020
·
Laura Marti‐Sanchez
, Heidy Baide‐Mairena
, et al.
·
Journal of Inherited Metabolic Disease
·
42
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
2007
·
Ute Moog
, Filip Roelens
, et al.
·
American Journal of Medical Genetics Part A
·
42
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
2018
·
Mathilde Renaud
, Maria-Céu Moreira
, et al.
·
JAMA Neurology
·
41
PDF
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
2013
·
Sarah Vergult
, Ellen Van Binsbergen
, et al.
·
European Journal of Human Genetics
·
34
PDF
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
2020
·
Petrus J. de Vries
, Elena Belousova
, et al.
·
Journal of Neurodevelopmental Disorders
·
32
PDF
PRRT2 mutations: exploring the phenotypical boundaries
2013
·
T. Djemie
, S. Weckhuysen
, et al.
·
Journal of Neurology Neurosurgery & Psychiatry
·
30
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement
2022
·
Leslie Naesens
, Josephine Nemegeer
, et al.
·
Journal of Clinical Immunology
·
24
PDF
Neuromyelitis optica-IgG(+) optic neuritis associated with celiac disease and dysgammaglobulinemia: A role for tacrolimus?
2010
·
Isabelle Meyts
, Katrien Jansen
, et al.
·
European Journal of Paediatric Neurology
·
24
SPG20 mutation in three siblings with familial hereditary spastic paraplegia
2017
·
Leila Dardour
, Filip Roelens
, et al.
·
Molecular Case Studies
·
20
PDF
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2021
·
Sathiya N Manivannan
, Jolien Roovers
, et al.
·
Brain
·
19
PDF
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Works count:
49
Citation count:
2,294
H-index:
23
I10-index:
26
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