Publications by authors named "Machteld Oud"

Claim this Profile
B
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Anneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Machteld M Oud

Genet Med· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Vicente A Yépez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknárová, Machteld M Oud

Nat Genet· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense variants in cause myo-tubulinopathies.
Mridul Johari, Chiara Folland, Yoshihiko Saito, Machteld M Oud, Jevin M Parmar

medRxiv· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill A Rosenfeld, Machteld M Oud

medRxiv· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E () Variants.
Elise A Ferreira, Machteld M Oud, Saskia N van der Crabben, Miranda Versloot, Susan M I Goorden

Genes (Basel)· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Variants in , a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Youn Hee Jee, Julian C Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Machteld M Oud

Genet Med Open· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Kae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn, Ronald van Beek, Machteld M Oud

Eur J Hum Genet· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, Angels García-Cazorla, Mar O'Callaghan, Machteld M Oud

Mol Genet Metab· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with variants.
Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Machteld M Oud

Front Mol Biosci· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Elise A Ferreira, Mark J N Buijs, Robin Wijngaard, Joost G Daams, Mareen R Datema, Machteld M Oud

Front Neurol· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
F Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Machteld M Oud

Am J Hum Genet· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, Karlien L M Coene, Saskia N van der Crabben

J Inherit Metab Dis· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identical Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Machteld M Oud

Front Genet· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.
Cenna Doornbos, Ronald van Beek, Ernie M H F Bongers, Dorien Lugtenberg, Peter H M Klaren, Machteld M Oud

Eur J Hum Genet· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
Bibiche den Hollander, Anne Rasing, Merel A Post, Willemijn M Klein, Machteld M Oud

Front Neurol· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk, Karolina Pesz, Lech Dudarewicz, Machteld M Oud

Am J Med Genet A· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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.
Lisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld Oud

Am J Hum Genet· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M Oud

Orphanet J Rare Dis· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CiliaCarta: An integrated and validated compendium of ciliary genes.
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Machteld M Oud

PLoS One· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.
Kirsten Y Renkema, Rachel H Giles, Marc R Lilien, Philip L Beales, Ronald Roepman, Machteld M Oud

Front Pediatr· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis.
Machteld M Oud, Brooke L Latour, Zeineb Bakey, Stef J Letteboer, Dorien Lugtenberg

Cilia· February 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense mutations in the WD40 domain of cause non-syndromic retinitis pigmentosa.
Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud

J Med Genet· September 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Ciliopathies: Genetics in Pediatric Medicine.
Machteld M Oud, Ideke J C Lamers, Heleen H Arts

J Pediatr Genet· March 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Machteld M Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren

Am J Hum Genet· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T Nguyen, Machteld M Oud

Nat Commun· May 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis