Geert R Mortier (Geert Mortier)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Topics

Duchenne Muscular Dystrophy

Obstructive Sleep Apnea

Palliative Care

Top Venues

Advances in therapy

The Journal of clinical endocrinology and metabolism

American journal of medical genetics. Part A

Calcified tissue international

This page only lists publications with an associated author ORCID identifier.

Publications

Svein Otto Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Encarna Guillén-Navarro, Florian Innig, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert R Mortier, Zagorka Pejin, Marco Sessa, Sérgio B Sousa, Melita Irving
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia. Advances in therapy 41 (7) (2024)
Yentl Huybrechts, Natasha M Appelman-Dijkstra, Ellen Steenackers, Wouter Van Beylen, Geert R Mortier, Gretl Hendrickx, Wim Van Hul
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis. The Journal of clinical endocrinology and metabolism 109 (7) (2024)
Svein Otto Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Encarna Guillén-Navarro, Florian Innig, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert R Mortier, Zagorka Pejin, Marco Sessa, Sérgio B Sousa, Melita Irving
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia. Advances in therapy 41 (7) (2024)
Svein Otto Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Encarna Guillén-Navarro, Florian Innig, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert R Mortier, Zagorka Pejin, Marco Sessa, Sérgio B Sousa, Melita Irving
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia. Advances in therapy 41 (7) (2024)
Svein Otto Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Encarna Guillén-Navarro, Florian Innig, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert R Mortier, Zagorka Pejin, Marco Sessa, Sérgio B Sousa, Melita Irving
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia. Advances in therapy 41 (7) (2024)
Svein Otto Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Encarna Guillén-Navarro, Florian Innig, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert R Mortier, Zagorka Pejin, Marco Sessa, Sérgio B Sousa, Melita Irving
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia. Advances in therapy (2024)
Yentl Huybrechts, Natasha M Appelman-Dijkstra, Ellen Steenackers, Wouter Van Beylen, Geert R Mortier, Gretl Hendrickx, Wim Van Hul
A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis. The Journal of clinical endocrinology and metabolism (2024)
Yentl Huybrechts, Natasha M Appelman-Dijkstra, Ellen Steenackers, Wouter Van Beylen, Geert R Mortier, Gretl Hendrickx, Wim Van Hul
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis. The Journal of clinical endocrinology and metabolism 109 (7) (2024)
Gretl Hendrickx, Eveline Boudin, Ligia Mateiu, Timur Alexander Yorgan, Ellen Steenackers, Michaela Kneissel, Ina Kramer, Geert R Mortier, Thorsten Schinke, Wim Van Hul
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling. Calcified tissue international (2023)
Yentl Huybrechts, Raphaël De Ridder, Ellen Steenackers, Jean-Pierre Devogelaer, Geert R Mortier, Gretl Hendrickx, Wim Van Hul
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. Calcified tissue international (2023)
Ravi Savarirayan, Penny Ireland, Melita Irving, Dominic Thompson, Inês Alves, Wagner A R Baratela, James Betts, Michael B Bober, Silvio Boero, Jenna Briddell, Jeffrey Campbell, Philippe M Campeau, Patricia Carl-Innig, Moira Shang-Mei Cheung, Martyn Cobourne, Valérie Cormier-Daire, Muriel Deladure-Molla, Mariana Del Pino, Heather Elphick, Virginia Fano, Brigitte Fauroux, Jonathan Gibbins, Mari L Groves, Lars Hagenäs, Therese Hannon, Julie Elizabeth Hoover-Fong, Morrys Kaisermann, Antonio Leiva-Gea, Juan Llerena, William G Mackenzie, Kenneth Martin, Fabio Mazzoleni, Sharon McDonnell, Maria Costanza Meazzini, Josef Milerad, Klaus Mohnike, Geert R Mortier, Amaka C Offiah, Keiichi Ozono, John A Phillips, Steven Powell, Yosha Prasad, Cathleen Raggio, Pablo Rosselli, Judith Rossiter, Angelo Selicorni, Marco Sessa, Mary Theroux, Matthew Thomas, Laura Trespedi, David Tunkel, Colin Wallis, Michael Wright, Natsuo Yasui, Svein Otto Fredwall
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature reviews. Endocrinology (2021)
Geert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti-Furga, Sheila Unger, Matthew L Warman
Nosology and classification of genetic skeletal disorders: 2019 revision. American journal of medical genetics. Part A 179 (12) (2019)
Katta Mohan Girisha, Gandham S Bhavani, Hitesh Shah, Amita Moirangthem, Anju Shukla, Ok-Hwa Kim, Gen Nishimura, Geert R Mortier
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. American journal of medical genetics. Part A 182 (2) (2019)