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List of works by Geert Mortier

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

scientific article published on 14 December 2011

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

scientific article

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

article

A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization

scientific article published on 16 August 2013

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

scientific article published on 29 January 2014

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

article

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

scientific article

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

scientific article published on 18 April 2007

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

article

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

scientific article published in March 2003

Articulation in schoolchildren and adults with neurofibromatosis type 1.

scientific article published in December 2011

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

scientific article published on 22 November 2019

Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene

article

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

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

scientific article

Carrier screening for cystic fibrosis in a prenatal setting

scientific article

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

scientific article published on 16 September 2009

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

scientific article published in November 1997

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

scientific article published in October 1998

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

scientific article published in March 2000

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

scientific article

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

scientific article

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

scientific article

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

scientific article published on 20 September 2012

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

scientific article published in October 2006

Czech dysplasia metatarsal type: another type II collagen disorder

scientific article published on 29 August 2007

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

scientific article published on 6 May 2016

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

scientific article

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

scientific article published on 01 May 2008

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

scientific article published in August 2005

Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test

scientific article published on 12 June 2016

Disfluency: it is not always stuttering

scientific article published on 9 April 2013

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

scientific article

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

scientific article

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

scientific article published on 14 October 2009

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

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

scientific article

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

scientific article

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

scientific article published on 01 December 2007

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

scientific article published on 27 April 2006

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

scientific article published on 28 June 2013

Familial hypertryptasemia with associated mast cell activation syndrome.

scientific article published on 30 July 2014

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

scientific article published on 28 August 2015

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

article published in 2011

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

scientific article published on 26 February 2009

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

scientific article published on 01 August 2006

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

scientific article

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

scientific article

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

scientific article

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

scientific article published in May 2010

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

article

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

scientific article

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

scientific article published on 11 June 2012

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

article

Hearing Loss as a Presenting Symptom of Cleidocranial Dysplasia ⬇️

scientific article published on November 1, 2001

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

scientific article published on 21 May 2013

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

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

scientific article (publication date: September 2002)

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

scientific article published on December 2009

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

scientific article

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

scientific article

Hyperkalemia in young children: blood pressure checked?

scientific article published on 17 September 2016

Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome

scientific article published in November 2004

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

scientific article

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

scientific article published on 7 April 2016

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

scientific article

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

scientific article

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

scientific article

Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors

scientific article published on March 2016

Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndrome

scientific article published on 15 January 2010

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

scientific article

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

scientific article

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

scientific article published on 8 July 2012

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

scientific article published on 15 September 2016

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

scientific article

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

scientific article published on 09 October 2013

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

scientific article

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

scientific article

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints

scientific article published in January 2004

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB.

scientific article published in April 2014

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

scientific article published in March 2012

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

scientific article published on 5 March 2014

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

scientific article

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

scientific article published on 12 July 2012

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

scientific article

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

scientific article

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

scientific article published on 06 October 2012

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

scientific article

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

scientific article published on 30 September 2012

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

scientific article

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

scientific article published on 10 February 2015

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

scientific article

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

scientific article

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

scientific article published on 16 December 2016

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

scientific article published in April 2012

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

scientific article

Nasal speech in patients with 12q15 microdeletions.

scientific article

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

scientific article published on 3 April 2013

Nosology and classification of genetic skeletal disorders: 2010 revision.

scientific article

Nosology and classification of genetic skeletal disorders: 2015 revision

scientific article published on 23 September 2015

Nosology and classification of genetic skeletal disorders: 2019 revision

scientific article published on 21 October 2019

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

scientific article

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

scientific article published on 8 September 2014

Objective assessment of nasality in flemish adults with neurofibromatosis type 1

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

scientific article published on 12 January 2007

Overall intelligibility, articulation, resonance, voice and language in a child with Nager syndrome

scientific article published on 8 December 2010

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome

scientific article

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

scientific article

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

article

Phenotype and natural history in Marshall-Smith syndrome

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

scientific article published on 29 November 2006

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

scientific article

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

scientific article

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

scientific article

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

article

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

scientific article published in January 2012

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

scientific article published on 06 August 2007

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

scientific article

Sclerosing bone dysplasias: leads toward novel osteoporosis treatments

scientific article

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia

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

scientific article (publication date: 15 July 2001)

Speech disorders in neurofibromatosis type 1: a sample survey

scientific article published in September 2010

Speech fluency in neurofibromatosis type 1.

scientific article

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutation

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

scientific article published on 24 February 2010

Stickler syndrome type I and Stapes ankylosis

scientific article published in December 2004

Subtelomeric imbalances in phenotypically normal individuals

scientific article published in October 2007

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

scientific article

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

article

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

Tetrasomy and pentasomy of the X chromosome

scientific article published on 18 May 2011

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

scientific article published on 17 March 2009

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto

article

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

scientific article

The annual incidence of DiGeorge/velocardiofacial syndrome ⬇️

scientific article published on September 1, 1998

The diagnosis of skeletal dysplasias: a multidisciplinary approach ⬇️

scientific article published on December 1, 2001

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

scientific article published on 12 July 2012

The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans

scientific article published on 28 October 2009

The mutation spectrum in Holt-Oram syndrome

scientific article

The scapula as a window to the diagnosis of skeletal dysplasias.

scientific article published on May 1997

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

scientific article published on 18 October 2010

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

scientific article

Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes

article

Unusual 8p inverted duplication deletion with telomere capture from 8q.

scientific article

Voice characteristics in adults with neurofibromatosis type 1.

scientific article published on 16 October 2010

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

scientific article published on 7 May 2011

Whole body MR imaging in neurofibromatosis type 1.

scientific article published on 16 December 2008

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder

scientific article published on 6 July 2016

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

scientific article

Word-final prolongations in an adult male with neurofibromatosis type 1.

scientific article published on 24 May 2010

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

scientific article

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

scientific article

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

scientific article (publication date: 2007)

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