prof. dr. Olivier Vanakker

Journal Article
A1
open access

REACT-PXE : a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

L. Martin, W. Spiering, Karolien Aelbrecht (UGent) , T. Aranyi, C. Duranton, N. Kiss, E. Letavernier, M. Medvecz, M. Pfau, P.I. Nevalainen, et al.

(2026) ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE. 153(1).

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Lipid metabolism alterations in hereditary inorganic pyrophosphate deficiency syndromes : a narrative review of insights and controversies

Robbe Derudder (UGent) and Olivier Vanakker (UGent)

(2025) JOURNAL OF INHERITED METABOLIC DISEASE. 49(1).

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The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

Shana Verschuere (UGent) , Sofie Symoens (UGent) , Delfien Syx (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2025) JOURNAL OF INVESTIGATIVE DERMATOLOGY.

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Journal Article
A2
open access

ABCC6-related left ventricular papillary muscle calcification

Lukas Nollet (UGent) , Ruben Pauwels, Julie De Zaeytijd (UGent) , Beatrijs Strubbe, Amélie Dendooven (UGent) and Olivier Vanakker (UGent)

(2025) JACC : CASE REPORTS. 30(35).

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Journal Article
A1
open access

Hexasodium fytate (SNF472 or CSL525) inhibits ectopic calcification in various pseudoxanthoma elasticum and calcinosis cutis animal models

Miguel D. Ferrer, Maria del Mar Perez-Ferrer, Marc Blasco, Ida Joely Jacobs, Qiaoli Li, Olivier Vanakker (UGent) , Lisa Dangreau (UGent) , Andrea Lopez, Gianluca Malagraba, Firas Bassissi, et al.

(2025) PHARMACEUTICALS. 18(4).

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Journal Article
A2
open access

2024 Annual Meeting of the International Network on Ectopic Calcification (INTEC) : abstract proceedings

M. Leonor Cancela, Ahmed Alouane, Pietro M. Bertelli, Antonio Camacho, Robbe Derudder (UGent) , Antonella Forlino, Matthew P. Harris, Marta Jacinto, Imre Lengyel, Wolfgang Link, et al.

(2025) GOUT, URATE, AND CRYSTAL DEPOSITION DISEASE. 3(3).

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Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia

Eva D'haene (UGent) , Raquel Rouco, Marlies Colman (UGent) , Machteld Baetens (UGent) , Lies Vantomme (UGent) , Olivier Vanakker (UGent) , Bert Callewaert (UGent) , Fransiska Malfait (UGent) , Guillaume Andrey, Delfien Syx (UGent) , et al.

(2025) EMBO Workshop 'Enhancer mechanics and enhanceropathies', Abstracts.

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Journal Article
A1
open access

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De Cock, Erika D'haenens (UGent) , Lies Vantomme (UGent) , Lynn Backers, Aude Beyens (UGent) , Kathleen Claes (UGent) , Griet De Clercq (UGent) , Robin de Putter (UGent) , Candy Kumps (UGent) , Nika Schuermans (UGent) , et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).

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Aarskog-Scott syndrome : a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Mederic Jeanne, Nathalie Ronce, Solene Remize, Stephanie Arpin, Genevieve Baujat, Sylvain Breton, Florence Petit, Clemence Vanlerberghe, Anne Coeslier-Dieux, Sylvie Manouvrier-Hanu, et al.

(2025) JOURNAL OF MEDICAL GENETICS. 62(4). p.258-267

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Journal Article
A1
open access

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

Jeshurun C. Kalanithy, Enrico Mingardo, Jil D. Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A. Rosenfeld, Wen-Hann Tan, Stephanie A. Coury, Audrey C. Woerner, Jessica Sebastian, et al.

(2025) JOURNAL OF MEDICAL GENETICS. 62(2). p.126-137

Academic Bibliography

prof. dr. Olivier Vanakker

REACT-PXE : a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

Lipid metabolism alterations in hereditary inorganic pyrophosphate deficiency syndromes : a narrative review of insights and controversies

The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

ABCC6-related left ventricular papillary muscle calcification

Hexasodium fytate (SNF472 or CSL525) inhibits ectopic calcification in various pseudoxanthoma elasticum and calcinosis cutis animal models

2024 Annual Meeting of the International Network on Ectopic Calcification (INTEC) : abstract proceedings

Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Aarskog-Scott syndrome : a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

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