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Genetics

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78
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Medicine

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Citations
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Overview

Geert Mortier is affiliated with the University of Antwerp in Belgium. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with a considerable focus on Genetics and Molecular Biology as subfields, alongside Oncology, Pulmonary and Respiratory Medicine, and Immunology.

The scientist's main topics of research include connective tissue disorders, bone health and treatments, genomics and rare diseases, Wnt/β-catenin signaling in development and cancer, neonatal respiratory health, immunotherapy and immune responses, and T-cell and B-cell immunology. These topics illustrate a strong orientation toward both genetic and skeletal disorders as well as immune system mechanisms.

Recent notable publications by Geert Mortier include:

  • Nosology of genetic skeletal disorders: 2023 revision, 2023, American Journal of Medical Genetics Part A
  • International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia, 2021, Nature Reviews Endocrinology
  • WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders, 2020, Frontiers in Endocrinology
  • Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium, 2021, Frontiers in Endocrinology
  • The first European consensus on principles of management for achondroplasia, 2021, Orphanet Journal of Rare Diseases

Geert Mortier has collaborated frequently with a number of co-authors, including Wim Van Hul, Eveline Boudin, Valérie Cormier-Daire, Gretl Hendrickx, and Klaus Mohnike. These collaborations suggest a network focused on overlapping areas of skeletal and genetic disorders as well as endocrinology.

Their work is regularly published in venues such as Orphanet Journal of Rare Diseases, Bone Reports, bioRxiv (Cold Spring Harbor Laboratory), Calcified Tissue International, and Frontiers in Endocrinology. These journals and platforms reflect a concentration on rare diseases, bone-related science, and genetic studies.

Best Publications

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

    Jan Hellemans;Geert Mortier;Anne De Paepe;Franki Speleman

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

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • Nosology and classification of genetic skeletal disorders : 2010 revision

    Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

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

    Matthew A. Deardorff;Masashige Bando;Ryuichiro Nakato;Erwan Watrin

  • Nosology and classification of genetic skeletal disorders: 2015 revision

    Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman

  • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

    Ludwine M. Messiaen;Tom Callens;Geert Mortier;Diane Beysen

  • De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

    Alexander Hoischen;Bregje W M van Bon;Christian Gilissen;Peer Arts

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

    M D Briggs;S M Hoffman;L M King;A S Olsen

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

    Jan Hellemans;Olena Preobrazhenska;Andy Willaert;Philippe Debeer

  • Nosology and classification of genetic skeletal disorders: 2019 revision.

    Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

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

    Mark E. Lindsay;Dorien Schepers;Nikhita Ajit Bolar;Jefferson J. Doyle

  • Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

    Francesca Pasutto;Heinrich Sticht;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  • Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

    B. Menten;N. Maas;B. Thienpont;K. Buysse

  • The annual incidence of DiGeorge/velocardiofacial syndrome.

    Koenraad Devriendt;Jean-Pierre Fryns;Jean-Pierre Fryns;Geert Mortier;M N van Thienen

  • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

    Cynthia F. Bartels;Hülya Bükülmez;Hülya Bükülmez;Pius Padayatti;David K. Rhee

  • Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

    Bart Loeys;Lionel Van Maldergem;Geert Mortier;Paul Coucke

  • Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

    Elfride De Baere;Michael J. Dixon;Kent W. Small;Ethylin W. Jabs

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

    B W M van Bon;H C Mefford;B Menten;D A Koolen

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

    Alexander J Doyle;Alexander J Doyle;Alexander J Doyle;Jefferson J Doyle;Seneca L Bessling;Samantha Maragh;Samantha Maragh

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

    Ruti Parvari;Eli Hershkovitz;Nili Grossman;Rafael Gorodischer

Frequent Co-Authors

Björn Menten
Björn Menten Ghent University Hospital
Anne De Paepe
Anne De Paepe Ghent University Hospital
Bart Loeys
Bart Loeys University of Antwerp
Franki Speleman
Franki Speleman Ghent University
Wim Van Hul
Wim Van Hul University of Antwerp
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Paul Coucke
Paul Coucke Ghent University
Ludwine Messiaen
Ludwine Messiaen University of Alabama at Birmingham

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