List of works - Thomy de Ravel

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion

scientific article published on 01 June 2009

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

scientific article published on 10 November 2010

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

scientific article published in April 2005

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

scientific article

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

scientific article published on 31 October 2013

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

scientific article

Accuracy and Clinical Value of Maternal Incidental Findings During Noninvasive Prenatal Testing for Fetal Aneuploidies

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

scientific article published in September 2016

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

scientific article published in January 2015

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

scientific article published on 22 January 2009

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

scientific article published on 6 February 2010

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

scientific article

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

scientific article

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

BCAP31-related syndrome: The first de novo report

scientific article published on 19 July 2019

Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

scientific article

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Deletion and point mutations of PTHLH cause brachydactyly type E.

scientific article

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

scientific article published on 16 May 2018

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

scientific article

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

scientific article published on 21 February 2009

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

scientific article published on 21 January 2011

Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21

scientific article published on 20 April 2012

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

scientific article

Follow-up of adult males with chromosome 18p deletion

scientific article

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

scientific article

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

scientific article

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

scholarly article by Aspasia Destouni et al published 31 October 2018 in Human Reproduction

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

scientific article

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

scientific article (publication date: 1999)

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

scientific article

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

scientific article published on 18 November 2010

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

scientific article

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

scientific article

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

scientific article published on 13 March 2014

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

scientific article published in 2022

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

scientific article published on 30 November 2021

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

scientific article published on 15 February 2014

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

scientific article published on 4 May 2015

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

scientific article

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

scientific article published on 26 April 2017

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

scientific article published on 14 June 2019

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

scientific article published on May 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

article

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

scientific article

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

scientific article published on 25 September 2014

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site

scientific article published on 18 June 2019

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

scientific article published on 10 February 2020

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

scientific article

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

scientific article

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

scientific article published on 20 February 2014

Novel mutations and polymorphisms in the Fanconi anemia group C gene

scientific article

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

scientific article

Partial duplications of the ATRX gene cause the ATR-X syndrome.

scientific article published on 20 June 2007

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

scientific article

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

Post-zygotic origin of isochromosome 12p

scientific article published on 01 December 2004

Postmortem fetal imaging of a metabolic pluricystic kidney disease

scientific article published on 13 October 2011

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

scientific article published on 31 January 2018

Presenting symptoms in adults with the 22q11 deletion syndrome

scientific article published on 24 February 2014

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

scientific article published on 2 February 2017

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

scientific article

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

scientific article

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

scientific article published on 18 September 2014

Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

scientific article

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

scientific article published on 6 October 2009

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

scientific article published on 29 January 2014

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

scientific article published on November 2015

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

scientific article

Subtelomeric imbalances in phenotypically normal individuals.

scientific article published in October 2007

The ICF syndrome: new case and update

scientific article

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

scientific article

The clinical relevance of intragenic NRXN1 deletions

scientific article published on 13 January 2020

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

scientific article published on 23 May 2008

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

scientific article published on 28 January 2020

The obstetrician's dilemma during delivery of the very-low-birth-weight infant

scientific article published on April 4, 1992

Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis

scientific article

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

scientific article published in July 2005

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

scientific article

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

scientific article

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

scientific article published on 20 March 2007

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

scientific article published on 28 March 2019

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

scientific article

List of works by Thomy de Ravel

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion

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

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

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

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Accuracy and Clinical Value of Maternal Incidental Findings During Noninvasive Prenatal Testing for Fetal Aneuploidies

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

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

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

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

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

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

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

BCAP31-related syndrome: The first de novo report

Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Deletion and point mutations of PTHLH cause brachydactyly type E.

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

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

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

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

Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21

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

Follow-up of adult males with chromosome 18p deletion

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

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

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

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

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

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

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

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

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

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

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

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

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

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

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

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

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

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

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

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

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

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

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

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site

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

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

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

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

Novel mutations and polymorphisms in the Fanconi anemia group C gene

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Post-zygotic origin of isochromosome 12p

Postmortem fetal imaging of a metabolic pluricystic kidney disease

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

Presenting symptoms in adults with the 22q11 deletion syndrome

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

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

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

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

Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

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

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

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

Subtelomeric imbalances in phenotypically normal individuals.

The ICF syndrome: new case and update

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

The clinical relevance of intragenic NRXN1 deletions

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

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