Publications by authors named "Geert Mortier"

99Publications

Clinical characterization of the first Belgian SCN5A founder mutation cohort.

Europace 2020 Nov 22. Epub 2020 Nov 22.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43/6, 2650 Edegem, Belgium.

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November 2020

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Am J Hum Genet 2020 11 14;107(5):977-988. Epub 2020 Oct 14.

Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address:

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November 2020

Fibrous Dysplasia, Paget's Disease of Bone, and Other Uncommon Sclerotic Bone Lesions of the Craniofacial Bones.

Semin Musculoskelet Radiol 2020 Oct 9;24(5):570-578. Epub 2020 Oct 9.

Department of Radiology, Antwerp University Hospital and Antwerp University, Edegem, Belgium.

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October 2020

Chondrodysplasias and Aneurysmal Thoracic Aortopathy: An Emerging Tale of Molecular Intersection.

Trends Mol Med 2020 08 5;26(8):783-795. Epub 2020 Jun 5.

Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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August 2020

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.

Bone 2020 08 7;137:115406. Epub 2020 May 7.

Center of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium. Electronic address:

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August 2020

WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.

Front Endocrinol (Lausanne) 2020 9;11:165. Epub 2020 Apr 9.

Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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April 2020

Transcriptomic profiling of different responder types in adults after a Priorix® vaccination.

Vaccine 2020 04 9;38(16):3218-3226. Epub 2020 Mar 9.

AUDACIS, Antwerp Unit for Data Analysis and Computation in Immunology and Sequencing, University of Antwerp, Antwerp, Belgium; Centre for the Evaluation of Vaccination (CEV), Vaccine & Infectious Disease Institute (VAXINFECTIO), University of Antwerp, Antwerp, Belgium.

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April 2020

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).

Bone Rep 2020 Jun 11;12:100245. Epub 2020 Jan 11.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.

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June 2020

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Am J Med Genet A 2020 02 22;182(2):338-347. Epub 2019 Nov 22.

Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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February 2020

The third family with Eiken syndrome.

Clin Genet 2019 10 11;96(4):378-379. Epub 2019 Jul 11.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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October 2019

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Am J Med Genet A 2019 09 27;179(9):1709-1717. Epub 2019 Jun 27.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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September 2019

Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.

Calcif Tissue Int 2019 06 6;104(6):613-621. Epub 2019 Feb 6.

Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Prins Boudewijnlaan 43, Edegem, 2650, Antwerp, Belgium.

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June 2019

Camurati-Engelmann Disease.

Calcif Tissue Int 2019 05 5;104(5):554-560. Epub 2019 Feb 5.

Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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May 2019

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Bone 2019 04 23;121:191-195. Epub 2019 Jan 23.

Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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April 2019

Transcriptome profiling in blood before and after hepatitis B vaccination shows significant differences in gene expression between responders and non-responders.

Vaccine 2018 10 8;36(42):6282-6289. Epub 2018 Sep 8.

Department of Medical Genetics, University of Antwerp/Antwerp University Hospital, Edegem, Belgium; AUDACIS, Antwerp Unit for Data Analysis and Computation in Immunology and Sequencing, University of Antwerp, Antwerp, Belgium. Electronic address:

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October 2018

Marked Hypoplasia of the Distal Phalanges in Ellis-Van Creveld Syndrome.

J Belg Soc Radiol 2018 Apr 20;102(1):42. Epub 2018 Apr 20.

AZ Sint-Maarten and University (Hospital) Antwerp/Ghent, BE.

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April 2018

Human Genetics of Sclerosing Bone Disorders.

Curr Osteoporos Rep 2018 06;16(3):256-268

Centre of Medical Genetics, University of Antwerp & University Hospital Antwerp, Antwerp, Belgium.

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June 2018

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

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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January 2018

Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism.

J Allergy Clin Immunol Pract 2018 Jan - Feb;6(1):277-279.e1. Epub 2017 Sep 6.

Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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October 2019

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

J Mol Diagn 2017 05 22;19(3):445-459. Epub 2017 Mar 22.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

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May 2017

Hyperkalemia in young children: blood pressure checked?

Eur J Pediatr 2016 Dec 17;175(12):2011-2013. Epub 2016 Sep 17.

Queen Mathilde Mother and Child Care Centre, University Hospital Antwerp, Antwerp, Belgium.

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December 2016

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Sep 27;160(3):442-7. Epub 2016 Apr 27.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Czech Republic.

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September 2016

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

J Med Genet 2016 08 7;53(8):568-74. Epub 2016 Apr 7.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.

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August 2016

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

J Bone Miner Res 2016 Apr 24;31(4):874-81. Epub 2016 Jan 24.

Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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April 2016

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

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June 2015

Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.

J Mol Endocrinol 2015 Apr 22;54(2):137-47. Epub 2015 Jan 22.

Department of OncologyUniversity of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, BelgiumSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Center, Dr. Molenwaterplein 50, 3015GE Rotterdam, The NetherlandsCenter of Medical GeneticsDepartment of PathologyUniversity of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium Department of OncologyUniversity of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, BelgiumSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Center, Dr. Molenwaterplein 50, 3015GE Rotterdam, The NetherlandsCenter of Medical GeneticsDepartment of PathologyUniversity of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium.

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April 2015

Regulation of body and brain size: role of MAP4 and other centrosomal proteins.

Authors:
Geert R Mortier

Hum Mutat 2015 Jan;36(1)

Antwerp University Hospital, University of Antwerp and Ghent University, Belgium.

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January 2015

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Mol Genet Metab 2014 Nov 8;113(3):230-5. Epub 2014 Sep 8.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. Electronic address:

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November 2014

Familial hypertryptasemia with associated mast cell activation syndrome.

J Allergy Clin Immunol 2014 Dec 30;134(6):1448-1450.e3. Epub 2014 Jul 30.

Department of Immunology, Allergology, and Rheumatology, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

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December 2014

Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.

Curr Osteoporos Rep 2014 Sep;12(3):243-51

Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.

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September 2014

Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.

Semin Arthritis Rheum 2014 Aug 5;44(1):101-4. Epub 2014 Mar 5.

Division of Paediatric Immunology and Rheumatology, Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.

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August 2014

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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July 2014

XYLT1 mutations in Desbuquois dysplasia type 2.

Am J Hum Genet 2014 Mar 27;94(3):405-14. Epub 2014 Feb 27.

Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France. Electronic address:

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March 2014

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Am J Med Genet A 2014 Apr 29;164A(4):898-906. Epub 2014 Jan 29.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

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April 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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June 2014

Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.

Calcif Tissue Int 2014 Feb 24;94(2):240-7. Epub 2013 Oct 24.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India,

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February 2014

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

Am J Med Genet A 2013 Oct 16;161A(10):2645-51. Epub 2013 Aug 16.

Service de Génétique Médicale, CHU de Nantes, Nantes, France; INSERM, UMR-S 957, Nantes, France.

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October 2013

Bone lessons from Marfan syndrome and related disorders: fibrillin, TGF-B and BMP at the balance of too long and too short.

Pediatr Endocrinol Rev 2013 Jun;10 Suppl 2:417-23

Center for Medical Genetics, University of Antwerp, Antwerp, BE.

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June 2013

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.

J Pediatr Genet 2013 Jun;2(2):91-6

Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.

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June 2013

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.

Bone 2013 Jul 3;55(1):52-6. Epub 2013 Apr 3.

Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.

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July 2013

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis.

Bone 2013 Jan 6;52(1):292-5. Epub 2012 Oct 6.

Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.

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January 2013

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.

Eur J Paediatr Neurol 2012 Nov 6;16(6):730-5. Epub 2012 Mar 6.

Department of Neurology and Child Neurology, Hospital Sint-Jan, Ruddershove 10, 8000 Bruges, Belgium.

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November 2012

Articulation in schoolchildren and adults with neurofibromatosis type 1.

J Commun Disord 2012 Mar-Apr;45(2):111-20. Epub 2011 Dec 1.

Department of Otorhinolaryngology and Logopaedic-Audiologic Sciences, Ghent University, Ghent University Hospital 2P1, De Pintelaan 185, 9000 Gent, Belgium.

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June 2012

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1.

Am J Med Genet A 2011 Dec 3;155A(12):2974-81. Epub 2011 Nov 3.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University, Ghent, Belgium.

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December 2011

Tetrasomy and pentasomy of the X chromosome.

Eur J Pediatr 2011 Oct 18;170(10):1325-7. Epub 2011 May 18.

Stedelijk Ziekenhuis, Brugsesteenweg 90, 8800 Roeselare, Belgium.

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October 2011

Voice-related quality of life in adults with neurofibromatosis type 1.

J Voice 2012 Mar 7;26(2):e57-62. Epub 2011 May 7.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University Hospital, De Pintelaan 185, Ghent, Belgium.

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March 2012

Nosology and classification of genetic skeletal disorders: 2010 revision.

Am J Med Genet A 2011 May 15;155A(5):943-68. Epub 2011 Mar 15.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

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May 2011