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M. Oud · SciRah

Researcher profile · Semantic Scholar

M. Oud

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M. Oud — researcher profile on SciRah

h-index: 20
Works: 60
Citations: 2,390

Most-cited papers

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
M. Chaki, Rannar Airik, A. Ghosh, R. Giles +71 more
2012Cell392 citations Open access
Semantic Scholar
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
C. Bredrup, S. Saunier, M. Oud, T. Fiskerstrand +24 more
2011American Journal of Human Genetics241 citations Open access
Semantic Scholar
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K. Boldt, J. van Reeuwijk, Q. Lu, K. Koutroumpas +51 more
2016Nature Communications238 citations Open access
Semantic Scholar
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
I. Perrault, S. Saunier, S. Hanein, E. Filhol +26 more
2012American Journal of Human Genetics206 citations Open access
Semantic Scholar
CiliaCarta: An integrated and validated compendium of ciliary genes
T. V. van Dam, Julie E. Kennedy, R. van der Lee, E. de Vrieze +44 more
2017bioRxiv157 citations Open access
Semantic Scholar
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
H. Arts, E. Bongers, D. A. Mans, S. V. van Beersum +10 more
2011Journal of Medical Genetics147 citations
Semantic Scholar
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
M. Schmidts, H. Arts, E. Bongers, Z. Yap +30 more
2013Journal of Medical Genetics135 citations Open access
Semantic Scholar
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
M. Schmidts, J. Vodopiutz, S. Christou-Savina, Claudio R. Cortés +30 more
2013American Journal of Human Genetics125 citations Open access
Semantic Scholar
PGE2-mediated podosome loss in dendritic cells is dependent on actomyosin contraction downstream of the RhoA–Rho-kinase axis
S. F. V. van Helden, M. Oud, B. Joosten, N. Peterse +2 more
2008Journal of Cell Science93 citations Open access
Semantic Scholar
Geometry sensing by dendritic cells dictates spatial organization and PGE2-induced dissolution of podosomes
K. van den Dries, S. F. V. van Helden, J. T. Riet, R. Díez-Ahedo +7 more
2011Cellular and Molecular Life Sciences84 citations Open access
Semantic Scholar
Ciliopathies: Genetics in Pediatric Medicine
M. Oud, Ideke J. C. Lamers, H. Arts
2016Journal of Pediatric Genetics64 citations Open access
Semantic Scholar
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
M. Oud, P. Tuijnenburg, M. Hempel, Naomi van Vlies +34 more
2017American Journal of Human Genetics61 citations Open access
Semantic Scholar
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
S. Wortmann, M. Oud, M. Alders, K. Coene +17 more
2022Journal of Inherited Metabolic Disease60 citations Open access
Semantic Scholar
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
L. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer +68 more
2020American Journal of Human Genetics46 citations Open access
Semantic Scholar
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
M. Oud, C. Bonnard, D. A. Mans, U. Altunoğlu +17 more
2016Cilia43 citations Open access
Semantic Scholar
Unraveling the human dendritic cell phagosome proteome by organellar enrichment ranking.
S. Buschow, E. Lasonder, R. Szklarczyk, M. Oud +2 more
2012Journal of Proteomics35 citations Open access
Semantic Scholar
Dominant processes during human dendritic cell maturation revealed by integration of proteome and transcriptome at the pathway level.
S. Buschow, E. Lasonder, H. W. V. van Deutekom, M. Oud +5 more
2010Journal of Proteome Research35 citations Open access
Semantic Scholar
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
M. Oud, Brooke L. Latour, Zeineb Bakey, S. Letteboer +7 more
2018Cilia31 citations Open access
Semantic Scholar
TLR4-Mediated Podosome Loss Discriminates Gram-Negative from Gram-Positive Bacteria in Their Capacity to Induce Dendritic Cell Migration and Maturation
S. F. V. van Helden, K. van den Dries, M. Oud, R. Raymakers +3 more
2009Journal of Immunology29 citations Open access
Semantic Scholar
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
Thanh-Minh T. Nguyen, S. Hull, R. Roepman, L. I. van den Born +13 more
2017Journal of Medical Genetics25 citations Open access
Semantic Scholar
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
B. den Hollander, A. Rasing, M. A. Post, W. Klein +22 more
2021Frontiers in Neurology18 citations Open access
Semantic Scholar
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Joanna Walczak-Sztulpa, R. Posmyk, Ewelina Bukowska-Olech, Anna Wawrocka +6 more
2020Orphanet Journal of Rare Diseases16 citations Open access
Semantic Scholar
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Elise A. Ferreira, M. Buijs, R. Wijngaard, J. Daams +8 more
2023Frontiers in Neurology14 citations Open access
Semantic Scholar
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
Cenna Doornbos, R. van Beek, E. Bongers, D. Lugtenberg +4 more
2021European Journal of Human Genetics13 citations Open access
Semantic Scholar
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, R. van Beek +10 more
2022Frontiers in Genetics9 citations Open access
Semantic Scholar
C 14 ORF 179 encoding IFT 43 is mutated in Sensenbrenner syndrome
H. Arts, E. Bongers, D. A. Mans, S. V. van Beersum +10 more
20199 citations
Semantic Scholar
Early presentation of cystic kidneys in a family with a homozygous INVS mutation
M. Oud, B. V. van Bon, E. Bongers, A. Hoischen +8 more
2014American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
F. G. Frost, Marie Morimoto, Prashant Sharma, L. Ruaud +34 more
2023American Journal of Human Genetics7 citations Open access
Semantic Scholar
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35
Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk, K. Pesz +11 more
2021American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
B. Morales-Romero, G. Muñoz-Pujol, R. Artuch, À. García-Cazorla +15 more
2024Molecular Genetics and Metabolism6 citations Open access
Semantic Scholar
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
V. Yépez, G. Demidov, K. Ellwanger, S. Laurie +60 more
2025Nature Genetics5 citations Open access
Semantic Scholar
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
Kae R. Whiting, L. Haer-Wigman, Ralph J. Florijn, R. van Beek +5 more
2024European Journal of Human Genetics5 citations Open access
Semantic Scholar
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
K. Renkema, R. Giles, M. Lilien, P. Beales +4 more
2018Frontiers in Pediatrics4 citations Open access
Semantic Scholar
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
R. Wijngaard, C. I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan +34 more
2026American Journal of Human Genetics3 citations Open access
Semantic Scholar
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants
Elise A. Ferreira, M. Oud, S. N. van der Crabben, M. Versloot +4 more
2025Genes3 citations Open access
Semantic Scholar
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
M. Stokman, M. Oud, E. van Binsbergen, G. Slaats +8 more
2016American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
Angular distributions of autoionization electrons from Ne(2p43s2)1D in Li+-Ne collisions
M. Oud, S. F. Te Pas, W. Westerveld, A. Niehaus
19933 citations Open access
Semantic Scholar
Missense variants in TUBA4A cause myo-tubulinopathies
M. Johari, C. Folland, Y. Saito, M. Oud +52 more
2025medRxiv2 citations Open access
Semantic Scholar
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants
R. Wijngaard, C. I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan +17 more
2025medRxiv2 citations
Semantic Scholar
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
A. T. Vulto-van Silfhout, I. Jazet, S. Yzer, J. Pas +40 more
2025Genetics in Medicine2 citations Open access
Semantic Scholar
Missense variants in TUBA4A cause myo-tubulinopathies
M. Johari, C. Folland, Y. Saito, M. Oud +62 more
2026Brain : a journal of neurology1 citations Open access
Semantic Scholar
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities
Elise A. Ferreira, M. Oud, E. Kamsteeg, C. van Karnebeek +11 more
2026Frontiers in Radiology1 citations Open access
Semantic Scholar
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
L. L. P. Ramos, J. Parmar, R. Wijngaard, B. Grosz +43 more
2026Annals of Neurology1 citations Open access
Semantic Scholar
Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Y. Jee, J. Lui, D. Marafi, Zhi-Jie Xia +22 more
2024Genetics in medicine open1 citations Open access
Semantic Scholar
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants
Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras +9 more
2023Frontiers in Molecular Biosciences1 citations Open access
Semantic Scholar
NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea
R. Wijngaard, Lucy D. Dougherty De Miguel, G. Demidov, G. Astuti +30 more
2026Movement Disorders0 citations Open access
Semantic Scholar
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
V. Yépez, G. Demidov, K. Ellwanger, S. Laurie +60 more
2026Nature Genetics0 citations
Semantic Scholar
4.14P Differential impact of TUBA4A variants on cellular and microtubule morphology in a COS-1 overexpression model
M. Johari, L. Dofash, Jérémy Garcia, M. Oud +2 more
2026Neuromuscular Disorders0 citations
Semantic Scholar
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy—DEE94
R. Wijngaard, P. Dragoumi, K. Neveling, R. van Beek +5 more
2026Neuropediatrics0 citations
Semantic Scholar
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders
M. Oud, Elise A. Ferreira, C. van Karnebeek, R. Wijngaard +8 more
2026Journal of Inherited Metabolic Disease0 citations Open access
Semantic Scholar

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