G. Mortier

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

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing

J. Vance, G. Mortier, T. Callens, 1999, Genetics in Medicine.

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

G Mortier, T Callens, G. Mortier, 2000, Human mutation.

Preexisting memory CD4 T cells in naïve individuals confer robust immunity upon vaccination

G. Mortier, P. van Damme, A. Souquette, 2020, bioRxiv.

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

Gabriele Gillessen-Kaesbach, Ryuichiro Nakato, Katsuhiko Shirahige, 2012, Nature.

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

G. Mortier, F. Speleman, J. Vandesompele, 2007, Genome Biology.

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

R. Redon, M. Bitner-Glindzicz, G. Mortier, 2010, American journal of human genetics.

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

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

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

K. Buysse, G. Mortier, F. Speleman, 2008, American journal of medical genetics. Part A.

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

K. Devriendt, G. Mortier, J. Hurst, 2007, American journal of medical genetics. Part A.

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

G. Mortier, R. Tenconi, S. Mrusek, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias

R. Hennekam, E. Tobias, G. Mortier, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Cranial suture biology and dental development: genetic and clinical perspectives.

G. Mortier, P. D. De Coster, L. Martens, 2007, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

prolyl 3-hydroxylation identification of the splice form responsible for mutations : clinical documentation andLEPRE 1 Recessive osteogenesis imperfecta caused

G. Mortier, A. Mégarbané, H. Kayserili, 2009 .

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

G. Mortier, A. Mégarbané, H. Kayserili, 2008, Journal of Medical Genetics.

Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery

G. Mortier, Steven Woods, B. Loeys, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Sclerosing bone dysplasias

G. Mortier, W. Hul, F. Vanhoenacker, 2011 .

Hyperkalemia in young children: blood pressure checked?

G. Mortier, K. Van Hoeck, R. Hollander, 2016, European Journal of Pediatrics.

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.

G. Mortier, D. Rimoin, M. Bocian, 1996, American journal of medical genetics.

Short stature syndromes

G. Mortier, J. Graham, D. Rimoin, 2007 .

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

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

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

Andrew P. Stubbs, G. Mortier, P. J. van der Spek, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

G. Mortier, P. D’Haese, Igor Fijałkowski, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

G. Mortier, B. Menten, E. Klopocki, 2012, Genetics in Medicine.

Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

G. Mortier, D. Rimoin, D. Eyre, 2000, Journal of medical genetics.

Whole body MR imaging in neurofibromatosis type 1

G. Mortier, S. Janssens, K. Verstraete, 2009 .

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

G. Mortier, B. Loeys, J. Meester, 2020, Trends in molecular medicine.

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

G. Mortier, H. Dietz, W. Wuyts, 2016, Genetics in Medicine.

DANCE in developing and injured lung

G. Mortier, L. Greene, W. Gallagher, 2001 .

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

G. Mortier, B. Zabel, E. Canty, 1999, American journal of human genetics.

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

G. Mortier, J. Hellemans, A. Superti-Furga, 2009, American journal of human genetics.

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

G. Mortier, P. Martásek, Igor Fijałkowski, 2016, Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia.

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

G. Mortier, A. De Paepe, L. Nuytinck, 2000, Journal of medical genetics.

Articulation in schoolchildren and adults with neurofibromatosis type 1.

G. Mortier, S. Janssens, J. van Borsel, 2012, Journal of communication disorders.

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

G. Mortier, T. Callens, A. De Paepe, 1997, Human Genetics.

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

F. Antonacci, K. Buysse, G. Mortier, 2009, European Journal of Medical Genetics.

The Heterozygous Lemd3+/GT Mouse Is Not a Murine Model for Osteopoikilosis in Humans

G. Mortier, J. Hellemans, S. Vandenberghe, 2009, Calcified Tissue International.

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

G. Mortier, O. Kuismin, Igor Fijałkowski, 2012, Bone.

The first European consensus on principles of management for achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2021, Orphanet Journal of Rare Diseases.

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

G. Mortier, E. Fransen, J. Devogelaer, 2019, Calcified Tissue International.

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

G. Mortier, J. Loughlin, K. Chapman, 2001, Nature Genetics.

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

G. Mortier, S. Bhadada, W. Van Hul, 2020, Bone reports.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

G. Mortier, J. Hellemans, A. De Paepe, 2006, Human mutation.

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

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

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

G. Mortier, F. Vanhoenacker, Nick Van de Voorde, 2020, Seminars in Musculoskeletal Radiology.

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

K. Devriendt, G. Mortier, J. Fryns, 2004, European Journal of Human Genetics.

Identification of CANT1 mutations in Desbuquois dysplasia.

A. Munnich, S. Robertson, G. Mortier, 2009, American journal of human genetics.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

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

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

G. Mortier, D. Rimoin, A. Zankl, 2005, Journal of Medical Genetics.

Czech dysplasia metatarsal type: another type II collagen disorder

D. Sillence, G. Mortier, T. Cole, 2007, European Journal of Human Genetics.

WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

G. Mortier, E. Fransen, W. Van Hul, 2019, Calcified Tissue International.

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

G. Mortier, G. Rappold, E. Bakker, 2007, European Journal of Human Genetics.

Optimising care and follow-up of adults with achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2022, Orphanet Journal of Rare Diseases.

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

G. Mortier, M. Maghnie, C. Garel, 2022, Orphanet Journal of Rare Diseases.

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

G. Mortier, K. Desager, M. Alders, 2013, Journal of Pediatric Genetics.

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

R. Siebert, G. Mortier, B. Menten, 2010, American journal of medical genetics. Part A.

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

G. Mortier, C. Robson, V. Kimonis, 2007, American journal of medical genetics. Part A.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

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

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

Novel and recurrent mutations in the C‐terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia – multiple epiphyseal dysplasia disease group

G. Mortier, J. Bella, M. Wright, 2005, Human mutation.

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

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, American journal of medical genetics. Part A.

Multiple Epiphyseal Dysplasia, Dominant

G. Mortier, M. Wright, Briggs, 2003 .

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

G. Mortier, M. Briggs, K. Chapman, 2001, European Journal of Human Genetics.

Genetic Counselling and Testing for Hereditary Breast and Ovarian Cancer: The Gent(le) Approach

G. Mortier, K. Claes, A. De Paepe, 2002, Disease markers.

Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

G. Mortier, C. van Broeckhoven, P. Sutter, 1998, Molecular human reproduction.

Clinical characterization of the first Belgian SCN5A founder mutation cohort.

H. Heidbuchel, G. Mortier, C. Vrints, 2020, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

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

A. Munnich, G. Mortier, G. Scarano, 2012, Journal of Medical Genetics.

XYLT1 mutations in Desbuquois dysplasia type 2.

A. Munnich, G. Mortier, C. Bole-Feysot, 2014, American journal of human genetics.

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

G. Mortier, P. Dollé, D. Rifkin, 2015, Human molecular genetics.

brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015 .

Nosology and classification of genetic skeletal disorders: 2015 revision

Sheila Unger, Stefan Mundlos, Luca Sangiorgi, 2015, American journal of medical genetics. Part A.

Multiple Epiphyseal Dysplasia, Autosomal Dominant

G. Mortier, M. Wright, M. Briggs, 2015 .

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

G. Mortier, B. Bravenboer, E. Levtchenko, 2021, Frontiers in Endocrinology.

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

G. Mortier, M. Abramowicz, P. Coucke, 2012, American journal of medical genetics. Part A.

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

G. Mortier, H. Omran, A. Zankl, 2005, American journal of medical genetics. Part A.

The scapula as a window to the diagnosis of skeletal dysplasias

G. Mortier, D. Rimoin, R. Lachman, 1997, Pediatric Radiology.

Expanded carrier screening in a reproductive context. Towards a responsible implementation in the healthcare system

H. Peeters, G. Mortier, H. Oyen, 2017 .

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

G. Mortier, W. Van Hul, R. Koenig, 2011, Clinical genetics.

Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies

Y. Moreau, K. Devriendt, G. Mortier, 2006 .

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

G. Mortier, P. Beutels, P. van Damme, 2020, Vaccine.

Review: Clinical Variability and Genetic Heterogeneity in Multiple Epiphyseal Dysplasia

G. Mortier, M. Briggs, K. Chapman, 2003 .

Report of three patients, including monozygotic twins and review of clinical and mutation profiles.

G. Mortier, K. Girisha, P. Jacob, 2022, European journal of medical genetics.

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

G. Mortier, H. Morisaki, B. Loeys, 2019, Bone.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

A catalog of hemizygous variation in 127 22q11 deletion patients

E. Zackai, R. Gur, S. Warren, 2016, Human Genome Variation.

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

G. Mortier, W. Van Hul, N. Hamdy, 2021, Genes.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

G. Mortier, B. Peterlin, T. Haack, 2022, Journal of Medical Genetics.

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

G. Mortier, E. Conrad, B. Hamel, 1998, American journal of human genetics.

Preconceptional care: a systematic review of the current situation and recommendations for the future

G. Mortier, Y. Jacquemyn, B. Blaumeiser, 2013, Facts, views & vision in ObGyn.

Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism.

G. Mortier, Esther Bartholomeus, D. Ebo, 2018, The journal of allergy and clinical immunology. In practice.

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

E. Cuppen, G. Mortier, F. Speleman, 2012 .

Unexpected Severe Respiratory Insufficiency in a Newborn with Holt–Oram Syndrome

G. Mortier, Aleksandra Zečić, K. Smets, 2005, Journal of Perinatology.

Genomics, Epigenetics and Growth

G. Mortier, W. V. Berghe, 2013 .

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

G. Mortier, E. Fransen, J. Devogelaer, 2019, Calcified Tissue International.

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Seneca L. Bessling, A. McCallion, M. Caulfield, 2012, Nature Genetics.

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

Jason J. Corneveaux, M. Bitner-Glindzicz, G. Mortier, 2016, Human mutation.

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

G. Mortier, M. Jelusic, L. Van Laer, 2014, Seminars in arthritis and rheumatism.

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

G. Mortier, W. Van Hul, D. Geneviève, 2022, Bone.

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

G. Mortier, N. Al-Sannaa, L. Van Laer, 2020, European journal of medical genetics.

Front & Back Matter

L. Shaffer, C. Steinlein, G. Mortier, 2020, Molecular Syndromology.

Front & Back Matter

L. Shaffer, C. Steinlein, G. Mortier, 2020, Molecular Syndromology.

Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum

G. Mortier, P. Nürnberg, Shahida Moosa, 2017, Clinical Genetics.

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

G. Mortier, B. Menten, A. Verloes, 2010, American journal of medical genetics. Part A.

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

Philippe Debeer, Frank Speleman, Jan Hellemans, 2004, Nature Genetics.

Voice characteristics in adults with neurofibromatosis type 1.

G. Mortier, S. Janssens, J. van Borsel, 2011, Journal of Voice.

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

G. Mortier, S. Janssens, J. van Borsel, 2010, Journal of fluency disorders.

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

G. Mortier, J. Campbell, M. Sessa, 2021, Nature Reviews Endocrinology.

Camurati–Engelmann Disease

G. Mortier, F. Vanhoenacker, W. Van Hul, 2019, Calcified Tissue International.

Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia

G. Mortier, K. Hatakeyama, G. Nishimura, 2011, Molecular Syndromology.

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

G. Mortier, P. Byers, J. Zonana, 2021, Genetics in Medicine.

Stickler syndrome type I and Stapes ankylosis.

C. Cremers, J. Cruysberg, G. Mortier, 2004, International journal of pediatric otorhinolaryngology.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Sheila Unger, Andrea Superti-Furga, Stefan Mundlos, 2011, American journal of medical genetics. Part A.

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

G. Mortier, F. Speleman, J. Vandesompele, 2006, Human mutation.

Camurati–Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred

G. Mortier, W. Hul, S. Bhadada, 2014, Calcified Tissue International.

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

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes

A. Hoischen, G. Mortier, E. Fransen, 2021, European Journal of Human Genetics.

Imaging Studies in the Diagnostic Workup of Neonatal Nasal Obstruction

G. Mortier, P. Govaert, F. Meire, 2001, Journal of computer assisted tomography.

Nosology and classification of genetic skeletal disorders: 2019 revision

D. Sillence, S. Mundlos, S. Robertson, 2019, American journal of medical genetics. Part A.

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

Igor Fijalkowski, Geert Mortier, G. Mortier, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

P. Robinson, D. Horn, S. Mundlos, 2012, American journal of human genetics.

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

Kris Laukens, Niel Hens, Benson Ogunjimi, 2018, Vaccine.

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

G Mortier, Y Moreau, B De Moor, 2006, Journal of Medical Genetics.

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

G. Mortier, R. Houlston, R. Newbury-Ecob, 2006, Clinical dysmorphology.

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

G. Mortier, L. Faivre, C. Thauvin-Robinet, 2004, American journal of medical genetics. Part A.

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

G. Mortier, A. Moirangthem, K. Girisha, 2019, American journal of medical genetics. Part A.

Human Genetics of Sclerosing Bone Disorders

G. Mortier, W. Van Hul, E. Boudin, 2018, Current Osteoporosis Reports.

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

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

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

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

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

N. Simonis, G. Mortier, Nelle Lambert, 2013, Journal of Medical Genetics.

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

J. Hirschhorn, J. Crolla, G. Mortier, 2011, European Journal of Human Genetics.

The mutation spectrum in Holt-Oram syndrome

G. Mortier, R. Newbury-Ecob, P. Jonveaux, 2000, Journal of medical genetics.

E. Tobias, G. Mortier, T. Iwaya, 2007, American journal of medical genetics. Part A.

X‐linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families

G. Mortier, L. Faivre, R. Brenner, 2004, Human mutation.

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

M. Marra, K. Buysse, G. Mortier, 2007, Journal of Medical Genetics.

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.

G. Mortier, F. Speleman, E. Blennow, 2001, American journal of medical genetics.

Hearing Loss as a Presenting Symptom of Cleidocranial Dysplasia

G. Mortier, I. Dhooge, M. Lemmerling, 2001, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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 autosomal recessive inheritance

G. Mortier, D. Chitayat, A. Toi, 2007, American journal of medical genetics. Part A.

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

G. Mortier, E. Vamos, W. Courtens, 2000, Annales de genetique.

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

F. Antonacci, J. Veltman, K. Buysse, 2008, Journal of Medical Genetics.

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

G. Mortier, R. Sandford, Bernhard Steiner, 2008, Nature Genetics.

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

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Loss-of-function mutations in TGFB 2 cause a syndromic presentation of thoracic aortic aneurysm

Gallo, Brunner, E. Fishman, 2013 .

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

E. Fishman, E. Bongers, G. Mortier, 2012, Nature Genetics.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

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

G. Mortier, F. Speleman, B. Menten, 2004, American journal of medical genetics. Part A.

The annual incidence of DiGeorge/velocardiofacial syndrome.

K. Devriendt, G. Mortier, J. Fryns, 1998, Journal of medical genetics.

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

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

K. Devriendt, G. Mortier, J. Hardelin, 2007, Human mutation.

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

G. Mortier, H. V. van Duyvenvoorde, E. Espiner, 2022, Journal of the Endocrine Society.

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

G Mortier, G. Mortier, H. Cavé, 2004, Journal of Medical Genetics.

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

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

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

Edwin Cuppen, Tom Sante, Sarah Vergult, 2013, European Journal of Human Genetics.

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

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

G. Mortier, A. Destrée, C. Skrypnyk, 2003, Journal of medical genetics.

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

Frank Speleman, Björn Menten, Jo Vandesompele, 2005, European journal of medical genetics.

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

G. Mortier, F. Pagani, A. Villa, 2004, Human mutation.

Objective assessment of nasality in flemish adults with neurofibromatosis type 1

G. Mortier, K. Claes, S. Janssens, 2011, American journal of medical genetics. Part A.

Subtelomeric imbalances in phenotypically normal individuals

T. de Ravel, K. Devriendt, G. Mortier, 2007, Human mutation.

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Bart Loeys, Lut Van Laer, G. Mortier, 2018, American journal of human genetics.

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

S. Mundlos, G. Mortier, Y. Crow, 2004, American journal of human genetics.

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

G. Mortier, D. Wieczorek, R. Kooy, 2016, European Journal of Human Genetics.

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

G. Mortier, K. V. van Lierde, E. Huysman, 2010, International journal of pediatric otorhinolaryngology.

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

Frank Speleman, Björn Menten, Bart Loeys, 2009, European journal of medical genetics.

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

M. Brown, S. Robertson, G. Mortier, 2012, American journal of human genetics.

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

M. Owen, R. Snell, P. Schofield, 2002, Human molecular genetics.

Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2

Geert Vandeweyer, Edwin Reyniers, Liesbeth Rooms, 2012, Autism research : official journal of the International Society for Autism Research.

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

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

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

B. V. van Bon, A. Hoischen, N. de Leeuw, 2014, American journal of medical genetics. Part A.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

Front & Back Matter

L. Shaffer, C. Steinlein, G. Mortier, 2019, Molecular Syndromology.

Beckwith-Wiedemann SyndromeAn Update and Review for the Primary Pediatrician

G. Mortier, J. Graham, E. Y. Weng, 1995 .

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

A. Munnich, G. Mortier, A. Mégarbané, 2000, Journal of medical genetics.

WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

G. Mortier, W. Van Hul, E. Boudin, 2020, Frontiers in Endocrinology.

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

N. Carter, A. Munnich, R. Hennekam, 2010, American journal of human genetics.

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

Jo Lambert, Lieve Nuytinck, G. Mortier, 2007, American journal of medical genetics. Part A.

Activation of Interferon-Stimulated Genes following Varicella-Zoster Virus Infection in a Human iPSC-Derived Neuronal In Vitro Model Depends on Exogenous Interferon-α

G. Mortier, B. Ogunjimi, K. Laukens, 2022, Viruses.

Increased herpes zoster risk associated with poor HLA-A immediate early 62 protein (IE62) affinity

H. Goossens, G. Mortier, P. van Damme, 2018, Immunogenetics.

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

G. Mortier, P. Vermeersch, S. Bekri, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

G. Mortier, P. Pauwels, M. Peeters, 2016, British Journal of Cancer.

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

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

G. Mortier, A. De Paepe, L. Messiaen, 1998, Pediatric Radiology.

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

B. V. van Bon, M. Fichera, B. D. de Vries, 2009, European journal of medical genetics.

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

J. Rosenfeld, H. Mefford, G. Mortier, 2015, European journal of medical genetics.

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

Paul Coucke, Bart Loeys, Geert Mortier, 2002, Human molecular genetics.

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

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

G. Mortier, A. Verloes, F. Plasschaert, 2009, American journal of medical genetics. Part A.

Mesomelic Dysplasia With Specific Autopodal Synostoses: A Third Observation And Further Delineation Of The Multiple Congenital Anomaly Syndrome

G. Mortier, Brendan H. Lee, J. Leroy, 2003, Pediatric pathology & molecular medicine.

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

G. Mortier, K. Janssens, K. Vermeulen, 2016, Prenatal diagnosis.

Otological Manifestations of Charge Association

G. Mortier, P. Govaert, I. Dhooge, 1998, The Annals of otology, rhinology, and laryngology.

CT of the temporal bone in the CHARGE association

P. Van cauwenberge, G. Mortier, I. Dhooge, 1998, Neuroradiology.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

R. Pfundt, P. Lockhart, S. Mundlos, 2019, American journal of human genetics.

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS

L. Goossens, G. Mortier, A. Zecic, 2006, European Journal of Pediatrics.

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

G. Mortier, K. Girisha, A. Shukla, 2019, American journal of medical genetics. Part A.

The diagnosis of skeletal dysplasias: a multidisciplinary approach.

G. Mortier, G R Mortier, 2001, European journal of radiology.

Unilateral semicircular canal aplasia in Goldenhar's syndrome.

G. Mortier, I. Dhooge, M. Kunnen, 2000, AJNR. American journal of neuroradiology.

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

G. Mortier, K. V. van Lierde, B. Loeys, 2007, International journal of pediatric otorhinolaryngology.

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

K. Buysse, J. Clayton-Smith, G. Mortier, 2011, American journal of medical genetics. Part A.

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Bart De Moor, Yves Moreau, Jo Vandesompele, 2005, BMC Bioinformatics.

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

N. Carter, B. Ng, K. Buysse, 2007, European journal of medical genetics.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia

G. Mortier, K. Girisha, A. Shukla, 2022, Human mutation.

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

G. Mortier, E. Jabs, J. Graham, 1998, American journal of medical genetics.

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.

L. Lagae, J. Casanova, G. Mortier, 2017, The Journal of clinical investigation.

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

I. Kaitila, G. Mortier, C. Thiel, 2007, American journal of human genetics.

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

A. Olsen, H. Mohrenweiser, G. Mortier, 1995, Nature Genetics.

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium

G. Mortier, V. Grégoire, M. Vikkula, 2008, Journal of hypertension.

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

G. Mortier, A. Toutain, M. Cossée, 2005, Journal of Medical Genetics.

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

G. Mortier, A. De Paepe, M. Shohat, 1998, American journal of medical genetics.

Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome

G. Mortier, C. Baldock, E. Fransen, 2020, Journal of Medical Genetics.

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

G. Mortier, H. Bokhoven, T. Kleefstra, 2017, Gene.

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

G. Mortier, S. Nampoothiri, A. De Paepe, 2013, Orphanet Journal of Rare Diseases.

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

S. Gregory, G. Mortier, B. Gelb, 2002, Nature Genetics.

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

G. Mortier, J. Hellemans, A. De Paepe, 2003, American journal of human genetics.

Carrier screening for cystic fibrosis in a prenatal setting.

G. Mortier, A. De Paepe, L. Messiaen, 2001, Genetic testing.

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

G. Mortier, M. Zillikens, B. V. D. van der Eerden, 2020, Bone.

Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments

G. Mortier, Igor Fijałkowski, W. Van Hul, 2014, Current Osteoporosis Reports.

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

N. de Leeuw, B. D. de Vries, W. Reardon, 2009, European journal of medical genetics.

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

G. Mortier, J. Hellemans, N. Burrows, 2008, Journal of the American Academy of Dermatology.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

G. Mortier, K. Girisha, A. Shukla, 2018, Human mutation.

Camurati–Engelmann Disease

G. Mortier, F. Vanhoenacker, W. Van Hul, 2019, Calcified Tissue International.

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

G. Mortier, R. Cousins, R. Stokroos, 2018, PLoS genetics.

A Panel-Based Sequencing Analysis of Patients with Paget’s Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus

Tycho Canter Cremers, G. Mortier, E. Fransen, 2021, Calcified Tissue International.

Speech disorders in neurofibromatosis type 1: a sample survey.

G. Mortier, S. Janssens, J. van Borsel, 2010, International journal of language & communication disorders.

Camurati–Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred

G. Mortier, S. Bhadada, W. Van Hul, 2013, Calcified Tissue International.

DNA methylation profiling and genomic analysis in 20 children with short stature who were born small-for-gestational age.

K. Devriendt, G. Mortier, Raoul Rooman, 2020, The Journal of clinical endocrinology and metabolism.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

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

D. Roden, G. Mortier, H. Dietz, 2015, Human mutation.

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

G. Mortier, P. Pearson, G. Matthijs, 2000, Human Genetics.

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

G. Mortier, P. Pauwels, M. Peeters, 2015, Journal of molecular endocrinology.

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

G. Mortier, K. V. van Lierde, H. Vermeersch, 2011, International journal of pediatric otorhinolaryngology.

Preexisting memory CD4 T cells in naïve individuals confer robust immunity upon hepatitis B vaccination

G. Mortier, P. van Damme, A. Souquette, 2022, eLife.

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

G. Mortier, C. Vrints, W. Wuyts, 2017, The Journal of molecular diagnostics : JMD.

G. Mortier, S. Janssens, J. van Borsel, 2012, Journal of Voice.

Destructive juvenile idiopathic arthritis: do not overlook rare genetic skeletal disorders

G. Mortier, F. Vanhoenacker, C. Triaille, 2021 .

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

M. Brown, S. Robertson, G. Mortier, 2014 .

Disfluency: it is not always stuttering

G. Mortier, S. Janssens, J. van Borsel, 2014, Clinical genetics.

Stickler syndrome: comprehensive clinical and molecular analysis

G. Mortier, A. Paepe, I. Dhooge, 2016 .

American Society of Human Genetics Releases Apology for Misuse of Genetic Research

G. Mortier, P. Klinge, V. Sutton, 2023, American journal of medical genetics. Part A.

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

G. Mortier, A. Verloes, C. Baumann, 2009, American journal of medical genetics. Part A.

Nosology of genetic skeletal disorders: 2023 revision

D. Sillence, S. Mundlos, S. Robertson, 2023, American journal of medical genetics. Part A.

Memory CD4+ T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus

Kris Laukens, Niel Hens, Benson Ogunjimi, 2018, Genes & Immunity.

Tetrasomy and pentasomy of the X chromosome

G. Mortier, L. Danneels, K. Decaestecker, 2011, European Journal of Pediatrics.

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, Journal of Medical Genetics.

Preexisting memory CD 4 T cells in naïve individuals confer robust 1 immunity upon hepatitis B vaccination 2 Running title : Preexisting memory T cells confer immunity to vaccination 3

Nicolas De Neuter, G. Mortier, A. Souquette, 2021 .

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

G. Mortier, H. Dietz, B. Loeys, 2013, Pediatric endocrinology reviews : PER.

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

G. Mortier, F. Beemer, A. Giedion, 2003, Journal of medical genetics.

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

G. Mortier, F. Beemer, A. Giedion, 2005 .

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

G. Mortier, A. De Paepe, I. Dhooge, 2014, Molecular genetics and metabolism.

Memory CD4+ T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus

G. Mortier, N. Hens, P. Beutels, 2018, Genes & Immunity.

cancer in two families pyloric stenosis , endometriosis , and breast Delineation of a new syndrome : clustering of NAROD

G. Mortier, P. Jonveaux, C. Gardiner, 2000 .

malformations ascertained in a fetus with multiple chromosome derived from chromosome 3 An analphoid supernumerary marker

G. Mortier, P. Jonveaux, C. Gardiner, 2000 .

Hemiplegic cerebral palsy and the factor V Leiden mutation

G. Mortier, S. Uhrig, R. Newbury-Ecob, 2000, Journal of medical genetics.

Wolf-Hirschhorn syndrome ( WHS ) unbalanced translocations in patients with Unexpected high frequency of de novo

G. Mortier, P. Jonveaux, C. Gardiner, 2000 .

Phenotype and natural history in Marshall–Smith syndrome

Martin Zenker, Silvija Pušeljić, Geert Mortier, 2010, American journal of medical genetics. Part A.

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

G. Mortier, L. Biesecker, D. Rimoin, 1998, American journal of human genetics.

Missense mutations in the b strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004 .

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.

G. Mortier, M. Briggs, K. Chapman, 2003, Pediatric pathology & molecular medicine.

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

K. Devriendt, G. Mortier, J. Vandesompele, 2010, The Journal of clinical endocrinology and metabolism.

Diagnosing enterovirus meningitis via blood transcriptomics: an alternative for lumbar puncture?

G. Mortier, P. van Damme, Nicolas De Neuter, 2019, Journal of Translational Medicine.

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

A. Green, S. Robertson, G. Mortier, 2006, American journal of medical genetics. Part A.

Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.

E. Roeder, G. Mortier, A. Verloes, 2000, American journal of medical genetics.

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

G. Mortier, D. Tegay, W. Van Hul, 2013, Bone.

Front & Back Matter

L. Shaffer, C. Steinlein, G. Mortier, 2015, Molecular Syndromology.

The third family with Eiken syndrome

G. Mortier, K. Girisha, J. Soni, 2019, Clinical genetics.

Report of second case and clinical and molecular characterization of Eiken syndrome

G. Mortier, A. Moirangthem, K. Girisha, 2018, Clinical genetics.

WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

G. Mortier, E. Fransen, W. Van Hul, 2019, Calcified Tissue International.

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

G. Mortier, P. D. De Coster, L. Martens, 2005, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

K. Devriendt, G. Mortier, H. Van Esch, 2021, Molecular genetics & genomic medicine.

The diagnosis of a skeletal dysplasia: only for the eyes of a radiologist or in the hands of a clinical geneticist?

G. Mortier, 2005 .

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

S. Mundlos, Hitesh Shah, G. Mortier, 2014, American Journal of Medical Genetics. Part A.

Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome.

G. Mortier, M. Dhont, Fleur De Metsenaere, 2004, American journal of obstetrics and gynecology.

Speech fluency in neurofibromatosis type 1.

G. Mortier, S. Janssens, J. van Borsel, 2010, Journal of fluency disorders.

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

G. Mortier, S. Mohan, T. Nakashima, 2016, Journal of Medical Genetics.

Familial hypertryptasemia with associated mast cell activation syndrome.

G. Mortier, E. van de Vijver, P. Valent, 2014, The Journal of allergy and clinical immunology.

Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family

G. Mortier, W. Ahmad, W. Van Hul, 2023, Molecular Syndromology.

Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.

G. Mortier, W. Hul, Igor Fijałkowski, 2014 .

This item is the archived peer-reviewed author-version of: Sclerosing bone dysplasias : leads toward novel osteoporosis treatments

G. Mortier, W. Hul, Igor Fijałkowski, 2022 .

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

G. Mortier, B. Loeys, P. Ponsaerts, 2023, Stem Cell Research.

Nasal speech in patients with 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

G. Mortier, Igor Fijałkowski, W. Van Hul, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

G. Mortier, R. Hennekam, G. Nürnberg, 2007, American journal of human genetics.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

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

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

The incidence of DiGeorge/Velo-Cardio-Facial syndrome

K. Devriendt, G. Mortier, J. Fryns, 1999 .

Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum

G. Mortier, P. Nürnberg, Shahida Moosa, 2017, Clinical genetics.

Phenotype and natural history in Marshall–Smith syndrome

R. Hennekam, G. Mortier, S. Knight, 2010, American journal of medical genetics. Part A.

Voice characteristics in adults with neurofibromatosis type 1.

G. Mortier, S. Janssens, J. van Borsel, 2011, Journal of voice : official journal of the Voice Foundation.

G. Mortier, S. Janssens, J. van Borsel, 2012, Journal of voice : official journal of the Voice Foundation.

Whole body MR imaging in neurofibromatosis type 1.

G. Mortier, S. Janssens, K. Verstraete, 2009, European journal of radiology.

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

G. Mortier, F. Speleman, J. Vandesompele, 2007, Genome Biology.

Diagnosing enterovirus meningitis via blood transcriptomics: an alternative for lumbar puncture?

G. Mortier, P. van Damme, Nicolas De Neuter, 2019, Journal of Translational Medicine.

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

G. Mortier, M. Abramowicz, P. Coucke, 2012, American journal of medical genetics. Part A.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

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

G. Mortier, G. Nürnberg, G. Gillessen‐Kaesbach, 2007 .