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F. Roelens · SciRah

Researcher profile · Semantic Scholar

F. Roelens

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F. Roelens — researcher profile on SciRah

h-index: 23
Works: 44
Citations: 3,016

Most-cited papers

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
S. Weckhuysen, S. Mandelstam, A. Suls, D. Audenaert +19 more
2012Annals of Neurology498 citations
Semantic Scholar
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
K. Verhoeven, K. Claeys, S. Züchner, J. Schröder +35 more
2006Brain : a journal of neurology418 citations Open access
Semantic Scholar
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
S. Appenzeller, R. Balling, N. Barišić, S. Baulac +117 more
2017American Journal of Human Genetics326 citations Open access
Semantic Scholar
The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies
C. Redin, H. Brand, Ryan L. Collins, T. Kammin +145 more
2016Nature Genetics290 citations Open access
Semantic Scholar
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
B. Budde, Y. Namavar, P. Barth, B. Poll-The +34 more
2008Nature Genetics264 citations Open access
Semantic Scholar
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
P. D. de Vries, E. Belousova, M. Benedik, T. Carter +190 more
2018Orphanet Journal of Rare Diseases151 citations Open access
Semantic Scholar
Early onset collagen VI myopathies: Genetic and clinical correlations
L. Briñas, P. Richard, S. Quijano-Roy, C. Gartioux +34 more
2010Annals of Neurology123 citations Open access
Semantic Scholar
Perinatal cortical infarction within middle cerebral artery trunks
P. Govaert, E. Matthys, A. Zecic, F. Roelens +2 more
2000Archives of Disease in Childhood: Fetal and Neonatal Edition114 citations Open access
Semantic Scholar
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
Cyril Goizet, A. Boukhris, D. Maltête, L. Guyant‐Maréchal +20 more
2009Neurology101 citations
Semantic Scholar
Redefining the MED13L syndrome
Abidemi A. Adegbola, L. Musante, B. Callewaert, P. Maciel +28 more
2015European Journal of Human Genetics82 citations Open access
Semantic Scholar
Rating scales for dystonia in cerebral palsy: reliability and validity
E. Monbaliu, E. Ortibus, F. Roelens, K. Desloovere +4 more
2010Developmental Medicine & Child Neurology79 citations Open access
Semantic Scholar
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
B. Giusti, L. Lucarini, V. Pietroni, S. Lucioli +12 more
2005Annals of Neurology79 citations
Semantic Scholar
Folate Receptor Autoantibodies and Spinal Fluid 5-Methyltetrahydrofolate Deficiency in Rett Syndrome
V. Ramaekers, J. M. Sequeira, R. Artuch, N. Blau +7 more
2007Neuropediatrics66 citations Open access
Semantic Scholar
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
N. de Rocker, S. Vergult, D. Koolen, Eva Z. Jacobs +32 more
2014Genetics in Medicine57 citations Open access
Semantic Scholar
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
M. Renaud, M. Moreira, Bondo Ben Monga, D. Rodriguez +39 more
2018JAMA Neurology38 citations Open access
Semantic Scholar
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
U. Moog, F. Roelens, G. Mortier, H. Sijstermans +4 more
2007American Journal of Medical Genetics. Part A38 citations Open access
Semantic Scholar
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
S. Vergult, E. van Binsbergen, Tom Sante, S. Nowak +16 more
2013European Journal of Human Genetics37 citations Open access
Semantic Scholar
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
M. Sauter, E. Belousova, M. Benedik, T. Carter +189 more
2021Orphanet Journal of Rare Diseases36 citations Open access
Semantic Scholar
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Laura V. Vandervore, K. Stouffs, I. Tanyalcin, T. Vanderhasselt +11 more
2017Journal of Medical Genetics35 citations
Semantic Scholar
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
F. Cristofoli, Tonya Moss, H. Moore, K. Devriendt +16 more
2020American Journal of Human Genetics34 citations Open access
Semantic Scholar
PRRT2 mutations: exploring the phenotypical boundaries
T. Djémié, S. Weckhuysen, Philip Holmgren, K. Hardies +23 more
2013Journal of Neurology Neurosurgery & Psychiatry33 citations
Semantic Scholar
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
Nathalie Fieremans, Marijke Bauters, S. Belet, Jelle Verbeeck +6 more
2014Human Genetics28 citations
Semantic Scholar
Neuromyelitis optica-IgG+ optic neuritis associated with celiac disease and dysgammaglobulinemia: a role for tacrolimus?
I. Meyts, K. Jansen, M. Renard, X. Bossuyt +4 more
2011European journal of paediatric neurology25 citations
Semantic Scholar
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
L. Naesens, Josephine Nemegeer, F. Roelens, L. Vallaeys +25 more
2022Journal of Clinical Immunology22 citations Open access
Semantic Scholar
SPG20 mutation in three siblings with familial hereditary spastic paraplegia
Leila Dardour, F. Roelens, V. Race, E. Souche +2 more
2017Cold Spring Harbor molecular case studies18 citations Open access
Semantic Scholar
Subependymal nodular heterotopia in patients with encephalocele.
F. Roelens, Peter G. Barth, J. J. van der Harten
1999European journal of paediatric neurology8 citations
Semantic Scholar
Harlequin syndrome in a pediatric population: a case series
N. Beullens, G. Tourlamain, L. Vallaeys, F. Roelens +1 more
2021Acta Neurologica Belgica5 citations
Semantic Scholar
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy
S. Manivannan, Jolien Roovers, N. Smal, Candace T. Myers +14 more
2021medRxiv4 citations Open access
Semantic Scholar
A substitution error leading to central anticholinergic syndrome
P. De Bruyne, K. Logghe, F. Roelens
20151 citations
Semantic Scholar
KCNQ2 Potassium Channel Epileptic Encephalopathy Syndrome: Divorce of an Electro-Mechanical Couple?
S. Weckhuysen, S. Mandelstam, A. Suls, L. Deprez +7 more
20121 citations
Semantic Scholar
Dystonia rating scales in children with cerebral palsy: a reliability and validity study
E. Monbaliu, E. Ortibus, F. Roelens, K. Desloovere +4 more
20101 citations
Semantic Scholar
Ataxia oculomotor apraxia I
J. Leroy, F. Roelens, M. De Rammelaere, R. Van Coster +1 more
20041 citations
Semantic Scholar
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
P. D. de Vries, E. Belousova, M. Benedik, T. Carter +190 more
2020Journal of Neurodevelopmental Disorders0 citations Open access
Semantic Scholar
Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
A. Jansen, Laura V. Vandervore, I. Tanyalcin, T. Vanderhasselt +11 more
20170 citations
Semantic Scholar
Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies
C. Redin, H. Brand, Ryan L. Collins, C. Hanscom +38 more
20160 citations
Semantic Scholar
Identification of intellectual disability genes in female patients with skewed X-inactivation
Nathalie Fieremans, S. Belet, H. Van Esch, Koenraad Devriendt +7 more
20130 citations
Semantic Scholar
MYT1L, a new candidate gene for non-syndromic intellectual disability
N. de Rocker, S. Vergult, E. Van Oudenhove, C. Rosenberg +18 more
20120 citations
Semantic Scholar
Midline nasal dermoid sinus cyst in basal cell naevus syndrome (BCNS or Gorlin syndrome): A case report and review
K. Pilaete, F. Roelens, K. Claes, J. Verfaillie
20120 citations
Semantic Scholar
Rating Scales for dystonia in children with cerebral palsy: a reliability and validity study
E. Monbaliu, E. Ortibus, F. Roelens, K. Desloovere +4 more
20110 citations
Semantic Scholar
Rating Scales for Dystonia in Children with Cerebral Palsy: Reliability and Evaluation
E. Monbaliu, E. Ortibus, F. Roelens, K. Desloovere +4 more
20090 citations
Semantic Scholar
P185 Long-term cognitive and behavioural follow-up of patients with Dravet syndrome
K. Van Hasselt, A. Fonteyne, F. Roelens, L. Dom +6 more
20090 citations
Semantic Scholar
Two different infantile phenotypes of Rett syndromes
S. Voets, S. Seneca, F. Roelens, M. De Rademaeker +3 more
20080 citations
Semantic Scholar
C.P.2.16 Novel recessive and dominant mutations in collagen VI causing Ullrich congenital muscular dystrophy and correlation with mRNA degradation
L. Briñas, C. Gartioux, C. Ledeuil, S. Quijano-Roy +10 more
20070 citations
Semantic Scholar
Bart artery trunks Perinatal cortical infarction within middle cerebral
P. Govaert, E. Matthys, A. Zecic, F. Roelens +2 more
19990 citations
Semantic Scholar

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