Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

W. Steyaert · SciRah

Researcher profile · Semantic Scholar

W. Steyaert

Share profile

W. Steyaert — researcher profile on SciRah

h-index: 23
Works: 67
Citations: 1,389

Most-cited papers

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
S. Symoens, F. Malfait, Sanne D'hondt, B. Callewaert +6 more
2013Orphanet Journal of Rare Diseases121 citations Open access
Semantic Scholar
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
T. Van Damme, T. Gardeitchik, M. Mohamed, Sergio Guerrero‐Castillo +37 more
2017American Journal of Human Genetics101 citations Open access
Semantic Scholar
BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
A. Boel, W. Steyaert, N. de Rocker, B. Menten +4 more
2016Scientific Reports96 citations Open access
Semantic Scholar
IRF2BPL Is Associated with Neurological Phenotypes.
Paul C. Marcogliese, V. Shashi, R. Spillmann, N. Stong +39 more
2018American Journal of Human Genetics95 citations Open access
Semantic Scholar
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
A. Boel, Hanna de Saffel, W. Steyaert, B. Callewaert +3 more
2018Disease Models & Mechanisms81 citations Open access
Semantic Scholar
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
P. Santens, T. Van Damme, W. Steyaert, A. Willaert +4 more
2015Neurology67 citations
Semantic Scholar
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
S. Laurie, W. Steyaert, Elke de Boer, K. Polavarapu +105 more
2025Nature Medicine60 citations Open access
Semantic Scholar
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis
Thomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, Dionysia Dimitrakopoulou +9 more
2016Scientific Reports60 citations Open access
Semantic Scholar
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
F. Acke, F. Malfait, O. Vanakker, W. Steyaert +6 more
2014Molecular Genetics and Metabolism58 citations
Semantic Scholar
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
S. Symoens, Aileen M. Barnes, C. Gistelinck, F. Malfait +16 more
2015American Journal of Human Genetics49 citations Open access
Semantic Scholar
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
C. van Cauwenbergh, K. Van Schil, Robrecht Cannoodt, M. Bauwens +8 more
2016Genetics in Medicine46 citations Open access
Semantic Scholar
Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice
K. De Leeneer, J. Hellemans, W. Steyaert, Steve Lefever +11 more
2015Human Mutation46 citations Open access
Semantic Scholar
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family
D. Syx, S. Symoens, W. Steyaert, A. De Paepe +2 more
2015Disease Markers36 citations Open access
Semantic Scholar
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
W. Steyaert, L. Sagath, G. Demidov, V. Yépez +49 more
2025Genome Research34 citations Open access
Semantic Scholar
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
L. Muiño-Mosquera, Felke Steijns, Tjorven Audenaert, Ilse Meerschaut +7 more
2018Circulation Genomic and Precision Medicine34 citations Open access
Semantic Scholar
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
Ilse Meerschaut, A. Beyens, W. Steyaert, R. De Rycke +7 more
2019American Journal of Medical Genetics. Part A31 citations Open access
Semantic Scholar
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
N. Schuermans, D. Hemelsoet, W. Terryn, S. Steyaert +21 more
2022Orphanet Journal of Rare Diseases29 citations Open access
Semantic Scholar
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum
M. J. Hosen, F. van Nieuwerburgh, W. Steyaert, D. Deforce +5 more
2014Journal of Investigative Dermatology29 citations Open access
Semantic Scholar
A clinical scoring system for congenital contractural arachnodactyly
Ilse Meerschaut, Shana De Coninck, W. Steyaert, A. Barnicoat +39 more
2019Genetics in Medicine25 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
G. Khazeeva, K. Sablauskas, B. van der Sanden, W. Steyaert +7 more
2021bioRxiv24 citations Open access
Semantic Scholar
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome
R. H. Ali, K. Shah, A. Nasir, W. Steyaert +2 more
2016Clinical Genetics24 citations
Semantic Scholar
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
R. Wijngaard, G. Demidov, L. O'Gorman, Jordi Corominas-Galbany +25 more
2023European Journal of Human Genetics23 citations Open access
Semantic Scholar
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
W. Steyaert, L. Sagath, G. Demidov, V. Yépez +49 more
2024medRxiv18 citations Open access
Semantic Scholar
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
E. Vorsteveld, C. I. van der Made, S. P. Smeekens, J. Schuurs-Hoeijmakers +52 more
2024Clinical Immunology18 citations Open access
Semantic Scholar
IRF2BPL Is Associated with Neurological Phenotypes.
Paul C. Marcogliese, V. Shashi, R. Spillmann, N. Stong +39 more
2018American Journal of Human Genetics17 citations Open access
Semantic Scholar
Tissue‐specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
S. Symoens, W. Steyaert, Lynn Demuynck, A. De Paepe +3 more
2017American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
A. Töpf, A. Pyle, H. Griffin, L. Matalonga +56 more
2021European Journal of Human Genetics15 citations Open access
Semantic Scholar
Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population
O. Essawi, M. Farraj, K. De Leeneer, W. Steyaert +5 more
2015Disease Markers13 citations Open access
Semantic Scholar
Future perspectives of genome-scale sequencing
W. Steyaert, S. Callens, P. Coucke, B. Dermaut +3 more
2018Acta Clinica Belgica12 citations
Semantic Scholar
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
W. Steyaert, L. Haer-Wigman, R. Pfundt, D. Hellebrekers +9 more
2023Nature Communications10 citations Open access
Semantic Scholar
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
T. Van Damme, T. Gardeitchik, M. Mohamed, Sergio Guerrero‐Castillo +37 more
2020American Journal of Human Genetics10 citations Open access
Semantic Scholar
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, C. Ockeloen, L. Matalonga, R. Horvath +11 more
2021European Journal of Human Genetics9 citations Open access
Semantic Scholar
Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
A. Boel, W. Steyaert, N. de Rocker, B. Menten +4 more
2018Scientific Reports9 citations Open access
Semantic Scholar
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
K. Shah, R. H. Ali, Muhammad Ansar, Kwanghyuk Lee +12 more
2016BMC Medical Genetics9 citations Open access
Semantic Scholar
G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin
Matthew J. Varney, W. Steyaert, P. Coucke, J. Delanghe +5 more
2022Journal of Biological Chemistry8 citations Open access
Semantic Scholar
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA
Ilse Meerschaut, W. Steyaert, T. Bové, K. François +12 more
2022Genes8 citations Open access
Semantic Scholar
Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples
A. Van Tongerloo, H. Verdin, W. Steyaert, P. Coucke +1 more
2024Journal of Genetic Counseling5 citations
Semantic Scholar
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
Anna K. Sommer, Iris B. A. W. Te Paske, J. Garcia-Pelaez, A. Laner +22 more
2022European Journal of Medical Genetics4 citations Open access
Semantic Scholar
Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2.
W. Steyaert, Matthew J. Varney, J. Benovic, J. Creemers +3 more
2022Clinica chimica acta; international journal of clinical chemistry3 citations Open access
Semantic Scholar
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
Elke de Boer, B. Yaldiz, A. Denommé-Pichon, L. Matalonga +12 more
2021European Journal of Medical Genetics3 citations Open access
Semantic Scholar
BATCH-GE: Analysis of NGS Data for Genome Editing Assessment.
W. Steyaert, A. Boel, P. Coucke, A. Willaert
2018Methods in molecular biology3 citations
Semantic Scholar
Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome
Karo De Rycke, Marina Horvat, L. Caboor, P. Vermassen +8 more
2025bioRxiv2 citations
Semantic Scholar
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
R. Wijngaard, G. Demidov, L. O'Gorman, Jordi Corominas-Galbany +25 more
2023European Journal of Human Genetics2 citations Open access
Semantic Scholar
Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.
W. Steyaert, S. Verschuere, P. Coucke, O. Vanakker
2021Journal of genetics and genomics = Yi chuan xue bao2 citations Open access
Semantic Scholar
Loss-of-function in IRF2BPL is associated with neurological phenotypes
Paul C. Marcogliese, V. Shashi, R. Spillmann, N. Stong +38 more
2018bioRxiv2 citations Open access
Semantic Scholar
Sequence architecture shapes human allele frequencies through ectopic gene conversion
W. Steyaert
2026bioRxiv1 citations Open access
Semantic Scholar
Decoding Phenotypic Variability in Osteogenesis Imperfecta: Zebrafish as a Model for Molecular and Ultrastructural Insights
Sophie Debaenst, Lauren Sahd, Caitlin Debaene, T. Jarayseh +9 more
2025bioRxiv1 citations
Semantic Scholar
Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis
E. Vorsteveld, C. I. van der Made, S. P. Smeekens, J. Schuurs-Hoeijmakers +34 more
2024medRxiv1 citations Open access
Semantic Scholar
G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion
Matthew J. Varney, W. Steyaert, P. Coucke, J. Delanghe +1 more
2022The FASEB Journal1 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

P. Coucke×24
Invite
P. Coucke — researcher profile on SciRah
A. De Paepe×15
Invite
A. De Paepe — researcher profile on SciRah
B. Callewaert×11
Invite
B. Callewaert — researcher profile on SciRah
C. Gilissen×11
Invite
C. Gilissen — researcher profile on SciRah

×9

Invite

S. Symoens — researcher profile on SciRah

Invite

S. Laurie — researcher profile on SciRah

Invite

A. Hoischen — researcher profile on SciRah

Invite

A. Willaert — researcher profile on SciRah

L. Matalonga×8

Invite

L. Matalonga — researcher profile on SciRah

Invite

L. Vissers — researcher profile on SciRah

Invite

F. Malfait — researcher profile on SciRah

Invite

E. Kamsteeg — researcher profile on SciRah