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D. Rymen · SciRah

Researcher profile · Semantic Scholar

D. Rymen

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D. Rymen — researcher profile on SciRah

h-index: 19
Works: 52
Citations: 1,284

Most-cited papers

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
L. Tegtmeyer, S. Rust, M. van Scherpenzeel, B. Ng +46 more
2014New England Journal of Medicine239 citations Open access
Semantic Scholar
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jos C. Jansen, S. Çırak, M. van Scherpenzeel, S. Timal +39 more
2016American Journal of Human Genetics95 citations Open access
Semantic Scholar
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
M. Rujano, Magda Cannata Serio, G. Panasyuk, Romain Péanne +23 more
2017Journal of Experimental Medicine81 citations Open access
Semantic Scholar
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
E. Blommaert, Romain Péanne, N. Cherepanova, D. Rymen +13 more
2019Proceedings of the National Academy of Sciences of the United States of America80 citations Open access
Semantic Scholar
MAN1B1 Deficiency: An Unexpected CDG-II
D. Rymen, Romain Péanne, M. Millón, V. Race +14 more
2013PLoS Genetics76 citations Open access
Semantic Scholar
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
R. Altassan, S. Radenkovic, A. Edmondson, R. Barone +32 more
2020Journal of Inherited Metabolic Disease59 citations Open access
Semantic Scholar
Key features and clinical variability of COG6-CDG.
D. Rymen, J. Winter, P. V. van Hasselt, J. Jaeken +13 more
2015Molecular Genetics and Metabolism58 citations Open access
Semantic Scholar
ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients
B. Ng, S. Shiryaev, D. Rymen, E. Eklund +55 more
2016Human Mutation54 citations Open access
Semantic Scholar
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
M. van Scherpenzeel, S. Timal, D. Rymen, A. Hoischen +23 more
2014Brain : a journal of neurology53 citations Open access
Semantic Scholar
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Sun-Nie Y. Wong, L. Beamer, T. Gadomski, T. Honzík +18 more
2016Jornal de Pediatria52 citations Open access
Semantic Scholar
COG5-CDG: expanding the clinical spectrum
D. Rymen, L. Keldermans, V. Race, L. Régal +8 more
2012Orphanet Journal of Rare Diseases46 citations Open access
Semantic Scholar
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction
Isabelle Adant, M. Bird, B. Decru, Petra Windmolders +7 more
2022Molecular Metabolism44 citations Open access
Semantic Scholar
Skin manifestations in CDG
D. Rymen, J. Jaeken
2014Journal of Inherited Metabolic Disease39 citations
Semantic Scholar
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff, Céline Schulz +20 more
2024Cell32 citations Open access
Semantic Scholar
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
D. Rymen, M. Lindhout, M. Spanou, F. Ashrafzadeh +19 more
2020Genetics in Medicine32 citations Open access
Semantic Scholar
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.
Angelo Palmigiano, Rosaria Ornella Bua, Rita Barone, D. Rymen +7 more
2017Journal of Mass Spectrometry23 citations
Semantic Scholar
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinﬂammatory syndrome
S. Delafontaine, A. Iannuzzo, T. Bigley, B. Mylemans +30 more
2024Journal of Clinical Investigation21 citations Open access
Semantic Scholar
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG
G. Matthijs, D. Rymen, M. Millón, E. Souche +1 more
2012Glycoconjugate Journal21 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Christina K. Rapp, Ine Van Dijck, L. Laugwitz, M. Boon +13 more
2021Clinical Genetics20 citations Open access
Semantic Scholar
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
F. del Caño-Ochoa, B. Ng, Antonio Rubio-Del-Campo, Sonal Mahajan +10 more
2023Journal of Inherited Metabolic Disease17 citations Open access
Semantic Scholar
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
M. Wilson, A. Garanto, Филиппов Е. Ф., B. Ng +31 more
2021American Journal of Human Genetics16 citations Open access
Semantic Scholar
Genotype-Phenotype Correlations in PMM2-CDG
Laurien Vaes, D. Rymen, D. Cassiman, A. Ligezka +4 more
2021Genes16 citations Open access
Semantic Scholar
A case with rare type of congenital disorder of glycosylation: PGM1-CDG.
Aynur Küçükçongar, L. Tümer, F. Ezgü, Ç. Kasapkara +6 more
2015Genetic Counseling13 citations
Semantic Scholar
MAN 1 B 1 Deficiency : An Unexpected CDG-II
D. Rymen, Romain Péanne, B. Millón, V. Race +14 more
201411 citations
Semantic Scholar
SLC37A4‐CDG: Second patient
M. Wilson, D. Quelhas, E. Leão-Teles, L. Sturiale +11 more
2021JIMD Reports10 citations Open access
Semantic Scholar
Congenital disorders of glycosylation: other causes of ichthyosis
J. Jaeken, D. Rymen, G. Matthijs
2013European Journal of Human Genetics10 citations Open access
Semantic Scholar
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Andrea Jáñez Pedrayes, S. De Craemer, Jakub Idkowiak, Dries Verdegem +13 more
2025Cellular and Molecular Life Sciences9 citations Open access
Semantic Scholar
Mitochondrial HMG-CoA synthase deficiency.
B. Decru, Marine Lys, K. Truijens, Nathalie Mercier +5 more
2024Molecular Genetics and Metabolism8 citations
Semantic Scholar
Quality of life in children with erythropoietic protoporphyria: a case–control study
Louisa G Kluijver, D. Wensink, M. Wagenmakers, H. Huidekoper +3 more
2024Journal of dermatology (Print)8 citations Open access
Semantic Scholar
Glycosphingolipids in congenital disorders of glycosylation (CDG).
Andrea Jáñez Pedrayes, D. Rymen, Bart Ghesquière, P. Witters
2024Molecular Genetics and Metabolism8 citations Open access
Semantic Scholar
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
M. Wilson, Zoé Durin, O. Unal, B. Ng +12 more
2022Human Molecular Genetics7 citations Open access
Semantic Scholar
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, C. Staufner, L. Schlieben, Antal Dezsőfi-Gottl +15 more
2025Journal of Inherited Metabolic Disease6 citations Open access
Semantic Scholar
“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics
A. Raynor, A. Bruneel, P. Vermeersch, Sophie Cholet +8 more
2023PROTEOMICS - Clinical Applications6 citations
Semantic Scholar
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
Veronika Holubová, R. Barone, S. Grunewald, M. Tesařová +20 more
2024Journal of Inherited Metabolic Disease5 citations Open access
Semantic Scholar
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, A. Baghdasaryan +29 more
2025Molecular Genetics and Metabolism2 citations Open access
Semantic Scholar
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff, Céline Schulz +20 more
2024Cell2 citations Open access
Semantic Scholar
Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis.
T. Staut, P. Witters, D. Rymen, P. Vermeersch
2025Acta gastro-enterologica Belgica1 citations Open access
Semantic Scholar
A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference
Thibault Vanhove, Margo Aertgeerts, P. Witters, D. Rymen +3 more
2024Biochemia Medica1 citations Open access
Semantic Scholar
Integrating multiple omics levels using the human protein complexome as a framework, a multi-omics study of inborn errors of metabolism
M. Guharoy, Isabelle Adant, Matthew J Bird, Andrea Jáñez Pedrayes +16 more
2023bioRxiv1 citations Open access
Semantic Scholar
Pseudohyperglycemia due to glucometer interference in galactosemia
B. Decru, Hilde Blanckaert, G. Naulaers, C. Vanhole +5 more
2023Clinical Chemistry and Laboratory Medicine1 citations Open access
Semantic Scholar
Author response for "Expanding the phenotypic spectrum of FINCA syndrome beyond infancy"
Christina K. Rapp, Ine Van Dijck, L. Laugwitz, M. Boon +13 more
20211 citations Open access
Semantic Scholar
MAN1B1-CDG: how stressed-out can the Golgi be?
Romain Péanne, D. Rymen, Nathalie Jurisch-Yaksi, F. Foulquier +2 more
20141 citations
Semantic Scholar
Correction: COG5-CDG: expanding the clinical spectrum
D. Rymen, L. Keldermans, V. Race, L. Régal +8 more
2013Orphanet Journal of Rare Diseases1 citations Open access
Semantic Scholar
PM1 deficiency: clinical spectrum of a new secondary CDG
D. Rymen, L. Keldermans, D. Lefeber, L. D. De Meirleir +3 more
20121 citations
Semantic Scholar
The complexome contextualizes proteomics data to fingerprint biological states and highlight perturbed functional modules in disease
M. Guharoy, Isabelle Adant, Matthew J Bird, Alexander Botzki +19 more
2026npj Systems Biology and Applications0 citations Open access
Semantic Scholar
Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature
Ariane De Preter, A. Rochtus, P. Witters, D. Rymen
2025Molecular Genetics and Metabolism Reports0 citations Open access
Semantic Scholar
Congenital Disorders of Glycosylation: The Next Generation
D. Rymen
20150 citations
Semantic Scholar
A targeted resequencing approach for diagnostics of Congenital Disorders of Glycosylation
E. Souche, L. Keldermans, D. Rymen, G. Matthijs +1 more
20140 citations
Semantic Scholar
Mannosidase I deficiency: An unexpected CDG-II with intellectual disability and dysmorphic features
G. Matthijs, D. Rymen, Romain Péanne, V. Race +6 more
20130 citations
Semantic Scholar
COG5-CDG: five new patients expanding the phenotypical specrum
D. Rymen, L. Keldermans, V. Race, A. Mallezie +7 more
20120 citations
Semantic Scholar

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L. Keldermans — researcher profile on SciRah

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E. Morava — researcher profile on SciRah

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D. Quelhas — researcher profile on SciRah