Publications by authors named "Geert Mortier"

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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Ryan F Webb, Hannah McCurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Geert Mortier

J Bone Miner Res· November 2025

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Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Prince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Dhanya Lakshmi Narayanan, Geert Mortier

Eur J Hum Genet· May 2025

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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.
Evi Duthoo, Elien Beyls, Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Geert Mortier

J Exp Med· May 2025

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Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.
Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Geert Mortier

Orphanet J Rare Dis· May 2025

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Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?
Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Geert Mortier

Orphanet J Rare Dis· March 2025

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Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of Bone.
Yentl Huybrechts, Raphaël De Ridder, Dylan Bergen, Björn De Samber, Eveline Boudin, Geert Mortier

Calcif Tissue Int· March 2025

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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Svein Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Geert Mortier

Adv Ther· July 2024

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A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.
Yentl Huybrechts, Natasha M Appelman-Dijkstra, Ellen Steenackers, Wouter Van Beylen, Geert Mortier

J Clin Endocrinol Metab· June 2024

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RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Ewa Hordyjewska-Kowalczyk, Wim Wuyts, Nele Boeckx, An Verdonck, Gretl Hendrickx, Geert Mortier

Clin Genet· April 2024

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An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
Gretl Hendrickx, Eveline Boudin, Ligia Mateiu, Timur A Yorgan, Ellen Steenackers, Geert Mortier

Calcif Tissue Int· February 2024

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Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.
Yentl Huybrechts, Raphaël De Ridder, Ellen Steenackers, Jean-Pierre Devogelaer, Geert Mortier

Calcif Tissue Int· November 2023

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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Geert Mortier

Orphanet J Rare Dis· July 2023

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IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).
Pauline De Kinderen, Laura Rabaut, Melanie H A M Perik, Silke Peeters, Peter Ponsaerts, Geert Mortier

Stem Cell Res· June 2023

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Identification of a Novel Nonsense Variant in the Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.
Feroz Khan, Abida Arshad, Asmat Ullah, Ellen Steenackers, Geert Mortier

Mol Syndromol· June 2023

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Heterozygous pathogenic variants involving cause a new skeletal disorder resembling cleidocranial dysplasia.
Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Geert R Mortier

J Med Genet· May 2023

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Nosology of genetic skeletal disorders: 2023 revision.
Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Débora R Bertola

Am J Med Genet A· May 2023

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IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).
Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts

Stem Cell Res· March 2023

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A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.
Gretl Hendrickx, Eveline Boudin, Ellen Steenackers, Corinne Collet, Geert R Mortier

Bone· February 2023

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Activation of Interferon-Stimulated Genes following Varicella-Zoster Virus Infection in a Human iPSC-Derived Neuronal In Vitro Model Depends on Exogenous Interferon-α.
Marlies Boeren, Elise Van Breedam, Tamariche Buyle-Huybrecht, Marielle Lebrun, Pieter Meysman, Geert Mortier

Viruses· November 2022

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Optimising care and follow-up of adults with achondroplasia.
Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Geert Mortier

Orphanet J Rare Dis· August 2022

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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Geert Mortier

Orphanet J Rare Dis· July 2022

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Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles.
Katta M Girisha, Prince Jacob, Gandham SriLakshmi Bhavani, Hitesh Shah, Geert R Mortier

Eur J Med Genet· June 2022

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