T. de Ravel

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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.

Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion

D. Valle, T. de Ravel, I. Casteels, 2014, American journal of medical genetics. Part A.

SCN5A mutation in Brugada syndrome is associated with substrate severity detected by ECG imaging and high density electroanatomical mapping.

T. de Ravel, P. Brugada, S. Van Dooren, 2022, Heart rhythm.

Long-term effect of gene therapy on Leber's congenital amaurosis.

S. E. Barker, M. Nardini, G. Rubin, 2015, The New England journal of medicine.

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.

A. Stockman, T. de Ravel, C. Ripamonti, 2014, Investigative ophthalmology & visual science.

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

T. de Ravel, H. Van Esch, G. Froyen, 2015, European journal of medical genetics.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

A. Hoischen, H. Peeters, E. Eichler, 2014, Genetics in Medicine.

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

T. de Ravel, K. Devriendt, J. Vermeesch, 2017, Human reproduction.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

De novo interstitial tandem duplication of chromosome 20p12.1p13

T. de Ravel, J. Vermeesch, J. Fryns, 2003, American journal of medical genetics. Part A.

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

T. de Ravel, O. Gevaert, R. Sciot, 2011, Genes, chromosomes & cancer.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

H. Peeters, T. de Ravel, K. Devriendt, 2016, Clinical genetics.

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

T. de Ravel, K. Devriendt, R. Sciot, 2009, Genes, chromosomes & cancer.

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene

T. de Ravel, P. Verhamme, K. Peerlinck, 2014, Acta clinica Belgica.

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

C. Lewis, C. Mathew, T. de Ravel, 2000, Blood.

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.

T. de Ravel, J. Fryns, A. Verloes, 2008, European journal of medical genetics.

Presenting symptoms in adults with the 22q11 deletion syndrome.

T. de Ravel, K. Devriendt, H. Van Esch, 2014, European journal of medical genetics.

Novel mutations and polymorphisms in the Fanconi anemia group C gene

C. Mathew, T. de Ravel, R. Gibson, 1996, Human mutation.

Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin

H. Heidbuchel, T. de Ravel, C. Robberecht, 2010, Heart.

Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: patient outcomes, rate of appropriate and inappropriate interventions, and complications.

L. Jordaens, T. de Ravel, F. T. ten Cate, 2013, American heart journal.

Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.

J. De Sutter, T. de Ravel, Kristof Vandekerckhove, 2010, International journal of cardiology.

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

T. de Ravel, K. Devriendt, J. Vermeesch, 2009, Journal of Medical Genetics.

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

T. de Ravel, J. Vermeesch, J. Fryns, 2005, European journal of medical genetics.

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

F. Plewniak, T. de Ravel, R. Lewis, 2007, American journal of human genetics.

Complex chromosome re‐arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation

T. de Ravel, J. Vermeesch, J. Fryns, 2004, American journal of medical genetics. Part A.

Deletion and point mutations of PTHLH cause brachydactyly type E.

S. Mundlos, T. de Ravel, Y. Gillerot, 2010, American journal of human genetics.

Social phenotypes in genetic syndromes.

T. de Ravel, C. Oliver, A. Swillen, 2012, Journal of intellectual disability research : JIDR.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Trisomy 18 with total cranio‐rachischisis and thoraco‐abdominoschisis

T. de Ravel, C. A. Wright, S. Donaldson, 1999, Prenatal diagnosis.

A common Fanconi anemia mutation in black populations of sub-Saharan Africa.

C. Lewis, C. Mathew, T. de Ravel, 2005, Blood.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

C. Mathew, T. de Ravel, R. Gibson, 2001, Proceedings of the National Academy of Sciences of the United States of America.

The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15

T. de Ravel, J. Vermeesch, P. de Cock, 2007, Journal of Medical Genetics.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

T. de Ravel, K. Devriendt, B. Menten, 2014, European journal of medical genetics.

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

T. de Ravel, K. Devriendt, J. Vermeesch, 2010, Journal of Medical Genetics.

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.

L. Groop, T. de Ravel, J. Cogan, 1995, The Journal of clinical endocrinology and metabolism.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy

P. Carmeliet, T. de Ravel, K. Devriendt, 2005, Journal of Medical Genetics.

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.

P. Carmeliet, T. de Ravel, K. Devriendt, 2004, Heart rhythm.

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

T. de Ravel, A. Flamez, L. Pannone, 2022, Frontiers in Neurology.

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.

T. de Ravel, J. Vermeesch, I. Balikova, 2009, European journal of medical genetics.

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

T. de Ravel, K. Devriendt, J. Vermeesch, 2009, European journal of medical genetics.

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

T. de Ravel, F. Luyten, L. Geris, 2016, Human mutation.

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

T. de Ravel, I. Casteels, E. Sorokina, 2014, Orphanet Journal of Rare Diseases.

Prognostic value of left ventricular global constructive work in patients with cardiac amyloidosis

T. de Ravel, M. Bjerke, R. Schots, 2022, The International Journal of Cardiovascular Imaging.

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

T. de Ravel, J. Clayton-Smith, B. Thienpont, 2009, Human mutation.

Clinical spectrum of congenital corneal staphyloma: a case report.

T. de Ravel, I. Casteels, B. Foets, 2011, Bulletin de la Societe belge d'ophtalmologie.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

T. de Ravel, H. Van Esch, I. Casteels, 2010, Human mutation.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

T. de Ravel, B. Menten, I. Casteels, 2011, Investigative ophthalmology & visual science.

Chimerism in Black Southern African Patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY

M. Ramsay, T. de Ravel, L. Bhengu, 2009, Annals of the New York Academy of Sciences.

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.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

B. J. Klevering, E. Zrenner, T. de Ravel, 2012, Archives of ophthalmology.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

J. Cruysberg, T. de Ravel, A. D. den Hollander, 2006, Investigative ophthalmology & visual science.

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.

T. de Ravel, A. Corveleyn, L. de Catte, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

T. de Ravel, Eline Beert, E. Legius, 2009, The Lancet. Oncology.

Clinical and molecular aspects of RAS related disorders

T. de Ravel, E. Legius, E. Denayer, 2008, Journal of Medical Genetics.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

H. Mefford, E. Eichler, R. Regan, 2008, Journal of Medical Genetics.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

S. Jacobson, T. de Ravel, B. Lorenz, 2019, Human mutation.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Bba, L. Vissers, B. D. de Vries, 2005, Journal of Medical Genetics.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

H. Peeters, T. de Ravel, K. Devriendt, 2010, The Journal of pediatrics.

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

J. Rosenfeld, T. de Ravel, J. Vermeesch, 2009, Journal of Medical Genetics.

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Eric Legius, Jan Cools, Kevin Shannon, 2008, Human mutation.

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.

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

T. de Ravel, K. Devriendt, J. Vermeesch, 2006, Cytogenetic and Genome Research.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

T. de Ravel, K. Devriendt, H. Van Esch, 2015, Orphanet Journal of Rare Diseases.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses.

M. Ramsay, T. de Ravel, E. Dietzsch, 1995, American journal of medical genetics.

Subtelomeric imbalances in phenotypically normal individuals

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

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

T. de Ravel, J. Fryns, E. Legius, 2001, Clinical dysmorphology.

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

T. de Ravel, J. Vermeesch, E. Legius, 2018, Human reproduction.

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

H. Peeters, T. de Ravel, K. Devriendt, 2018, Prenatal diagnosis.

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

T. de Ravel, K. Devriendt, J. Vermeesch, 2012, European journal of medical genetics.

Clinical implementation of NIPT – technical and biological challenges

H. Peeters, T. de Ravel, K. Devriendt, 2016, Clinical genetics.

First trimester diagnosis of sirenomelia

S. Dymarkowski, T. de Ravel, T. Van den Bosch, 2006, Prenatal diagnosis.

Bandwidths of respiratory gas flow and pressure waveforms in mechanically ventilated infants.

T. de Ravel, A. Rothberg, M. J. Turner, 1993, Physiological measurement.

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

T. de Ravel, K. Devriendt, J. Vermeesch, 2011, American journal of ophthalmology.

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

P. Marynen, T. de Ravel, K. Devriendt, 2004, Journal of Medical Genetics.

London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001

T. de Ravel, J. Fryns, 2002, Human Genetics.

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

H. Peeters, T. de Ravel, K. Devriendt, 2016, Genetics in Medicine.

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

T. de Ravel, K. Devriendt, L. Lewi, 2020, European journal of medical genetics.

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

H. Smeets, T. de Ravel, K. Devriendt, 2011, Human mutation.

The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa.

T. de Ravel, W. Pfaffenzeller, N. Lekgate, 2000, Clinical dysmorphology.

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

T. de Ravel, I. Casteels, G. Arno, 2020, Scientific Reports.

Hydrolethalus syndrome in a non‐Finnish family: confirmation of the entity and early prenatal diagnosis

T. de Ravel, C. A. Wright, M. van der Griendt, 1999, Prenatal diagnosis.

The ICF syndrome: new case and update.

T. de Ravel, J. Fryns, P. Alliet, 2001, Genetic counseling.

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

T. de Ravel, K. Devriendt, J. Vermeesch, 2007, European heart journal.

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.

T. de Ravel, J. Vermeesch, H. Van Esch, 2010, European journal of medical genetics.

An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

T. de Ravel, K. Dahan, M. de Rademaeker, 2015, Human mutation.

Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability.

T. de Ravel, I. Marques, J. Rosendorff, 1998, Genetic counseling.

Follow-up of adult males with chromosome 18p deletion.

T. de Ravel, J. Fryns, P. Thiry, 2005, European Journal of Medical Genetics.

First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

M. Ramsay, T. de Ravel, M. Claustres, 1996, Journal of medical genetics.

The clinical relevance of intragenic NRXN1 deletions

H. Peeters, L. Gallagher, T. de Ravel, 2017, Journal of Medical Genetics.

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.

C. Mathew, D. Easton, T. de Ravel, 1994, Journal of medical genetics.

Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature

H. Heidbuchel, T. de Ravel, A. Corveleyn, 2014, Indian pacing and electrophysiology journal.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1

T. de Ravel, C. Wouters, J. Fryns, 2000, Journal of medical genetics.

Post‐zygotic origin of isochromosome 12p

T. de Ravel, J. Vermeesch, J. Fryns, 2004, Prenatal diagnosis.

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

T. de Ravel, K. Devriendt, H. Van Esch, 2012, Molecular Syndromology.

Possible isochromosome 22 leading to trisomy 22.

T. de Ravel, N. Gurtunca, W. Pfaffenzeller, 2000, American journal of medical genetics.

Genetic testing in children with Brugada syndrome: results from a large prospective registry

T. de Ravel, P. Brugada, S. Van Dooren, 2023, 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.

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

H. Peeters, T. de Ravel, K. Devriendt, 2019, Genetics in Medicine.

The Pallister-Killian syndrome in an African individual.

T. de Ravel, J. Cartwright, M. A. Jordan, 1995, Genetic counseling.

Lethal neonatal mandibuloacral dysplasia.

T. de Ravel, C. A. Wright, M. Seftel, 1996, American journal of medical genetics.

T. de Ravel, A. Corveleyn, B. Rinaldi, 2020, European journal of medical genetics.

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

T. de Ravel, K. Devriendt, J. Vermeesch, 2018, Front. Genet..

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly

T. de Ravel, H. Van Esch, J. Fryns, 2006, Clinical genetics.

Genetic testing in children with Brugada syndrome: results from a large prospective registry