Publications by authors named "Gert Matthijs"

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ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
Alexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, Magalie Barth, Fokje Zijlstra, Gert Matthijs

J Inherit Metab Dis· November 2025

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Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.
Mamy Ngole, Gloire Mbayabo, Paul Lumbala, Valerie Race, Nono Mvuama, Gert Matthijs

Mediterr J Hematol Infect Dis· January 2025

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Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
Takfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, Erika Souche, Céline Schulz, Gert Matthijs

J Biol Chem· December 2024

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A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, Céline Schulz, Geoffroy de Bettignies, Gert Matthijs

Cell· July 2024

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A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, Céline Schulz, Geoffroy de Bettignies, Gert Matthijs

Cell· July 2024

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The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.
Takfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, Erika Souche, Céline Schulz, Gert Matthijs

bioRxiv· June 2024

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Natural history of three late-diagnosed classic Galactosemia patients.
Dulce Quelhas, Sandra D K Kingma, An I Jonckheere, Claudia S Smeets-Peels, Daniel Costa Gomes, Gert Matthijs

Mol Genet Metab Rep· March 2024

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Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.
Eva Van Steijvoort, Mathilde Cassou, Camille De Schutter, Eftychia Dimitriadou, Hilde Peeters, Gert Matthijs

J Assist Reprod Genet· February 2024

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N-glycosylation as a eukaryotic protective mechanism against protein aggregation.
Ramon Duran-Romaña, Bert Houben, Matthias De Vleeschouwer, Nikolaos Louros, Matthew P Wilson, Gert Matthijs

Sci Adv· February 2024

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Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.
Gloire Mbayabo, Mamy Ngole, Paul Kabuyi Lumbala, Aimé Lumaka, Valerie Race, Gert Matthijs

Hematology· December 2023

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Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.
Paul Lumbala Kabuyi, Gloire Mbayabo, Mamy Ngole, Aimé Lumaka Zola, Valerie Race, Gert Matthijs

EJHaem· August 2023

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Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.
Eva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, Jasper Verguts, Karen Peeraer, Gert Matthijs

Eur J Hum Genet· June 2023

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Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.
Paul Kabuyi Lumbala, Gloire Mbayabo, Mamy Nzita Ngole, Aimé Lumaka, Valerie Race, Gert Matthijs

PLoS One· December 2022

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Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium).
Eva Van Steijvoort, Heleen Devolder, Inne Geysen, Silke Van Epperzeel, Hilde Peeters, Gert Matthijs

Eur J Hum Genet· November 2022

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Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice.
Eva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, Jasper Verguts, Karen Peeraer, Gert Matthijs

Patient Educ Couns· November 2022

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Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).
Eva Van Steijvoort, Remke Demuynck, Hilde Peeters, Hilde Vandecruys, Jasper Verguts, Gert Matthijs

J Genet Couns· October 2022

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Recommendations for whole genome sequencing in diagnostics for rare diseases.
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Gert Matthijs

Eur J Hum Genet· September 2022

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CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Matthew P Wilson, Zoé Durin, Özlem Unal, Bobby G Ng, Thomas Marrecau, Gert Matthijs

Hum Mol Genet· August 2022

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Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.
Gloire Mbayabo, Paul Lumbala Kabuyi, Mamy Ngole, Aimé Lumaka, Valerie Race, Gert Matthijs

J Clin Lab Anal· August 2022

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Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
Eline Blommaert, Natalia A Cherepanova, Frederik Staels, Matthew P Wilson, Reid Gilmore, Gert Matthijs

Hum Genet· July 2022

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CDG or not CDG.
Hudson H Freeze, Jaak Jaeken, Gert Matthijs

J Inherit Metab Dis· May 2022

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DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
Mamy Ngole, Valerie Race, Gloire Mbayabo, Paul Lumbala, Cathy Songo, Gert Matthijs

J Clin Lab Anal· May 2022

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COG6-CDG: Novel variants and novel malformation.
Lara Cirnigliaro, Paolo Bianchi, Luisa Sturiale, Domenico Garozzo, Giovanna Mangili, Gert Matthijs

Birth Defects Res· March 2022

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The evolving genetic landscape of congenital disorders of glycosylation.
Matthew P Wilson, Gert Matthijs

Biochim Biophys Acta Gen Subj· November 2021

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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, Bobby G Ng, Wasantha K Ranatunga, Gert Matthijs

Am J Hum Genet· November 2021

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