Geert Mortier

Research interests

Publications

• Nosology of genetic skeletal disorders: 2023 revision

  American Journal of Medical Genetics Part A · 2023 · https://doi.org/10.1002/ajmg.a.63132

• International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

  Nature Reviews Endocrinology · 2021 · https://doi.org/10.1038/s41574-021-00595-x

• Nosology and classification of genetic skeletal disorders: 2019 revision

  American Journal of Medical Genetics Part A · 2019 · https://doi.org/10.1002/ajmg.a.61366

• Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

  The American Journal of Human Genetics · 2017 · https://doi.org/10.1016/j.ajhg.2017.12.001

• Nosology and classification of genetic skeletal disorders: 2015 revision

  American Journal of Medical Genetics Part A · 2015 · https://doi.org/10.1002/ajmg.a.37365

• Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2012.12.011

• HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

  Nature · 2012 · https://doi.org/10.1038/nature11316

• Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2349

• Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2421

• Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

  The American Journal of Human Genetics · 2011 · https://doi.org/10.1016/j.ajhg.2011.05.012

• Nosology and classification of genetic skeletal disorders: 2010 revision

  American Journal of Medical Genetics Part A · 2011 · https://doi.org/10.1002/ajmg.a.33909

• De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

  Nature Genetics · 2010 · https://doi.org/10.1038/ng.581

• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

  Journal of Medical Genetics · 2009 · https://doi.org/10.1136/jmg.2008.063412

• Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

  European Journal of Medical Genetics · 2009 · https://doi.org/10.1016/j.ejmg.2009.02.006

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  New England Journal of Medicine · 2008 · https://doi.org/10.1056/nejmoa0805384

• qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

  Genome biology · 2007 · https://doi.org/10.1186/gb-2007-8-2-r19

• Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/512203

• Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

  The American Journal of Human Genetics · 2004 · https://doi.org/10.1086/422013

• Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1453

• Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

  Nature Genetics · 2002 · https://doi.org/10.1038/ng1012

• Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

  Nature Genetics · 2001 · https://doi.org/10.1038/ng573

• Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

  Human Mutation · 2000 · https://doi.org/10.1002/1098-1004(200006)15:6<541::aid-humu6>3.0.co;2-n

• Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

  The American Journal of Human Genetics · 1998 · https://doi.org/10.1086/301726

• The annual incidence of DiGeorge/velocardiofacial syndrome.

  Journal of Medical Genetics · 1998 · https://doi.org/10.1136/jmg.35.9.789-a

• Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

  Nature Genetics · 1995 · https://doi.org/10.1038/ng0795-330

Current projects

No projects listed.