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False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

PloS one, 2016-01, Vol.11 (1), p.e0146794-e0146794

2016

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A genotype-phenotype correlation for GJB2 (connexin 26) deafness

Journal of medical genetics, 2004-03, Vol.41 (3), p.147-154

2004

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Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.856-858

2014

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Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Prenatal diagnosis, 2019-10, Vol.39 (11), p.1016-1025

2019

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Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Prenatal diagnosis, 2018-11, Vol.38 (12), p.911-919

2018

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Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Nature genetics, 1998-05, Vol.19 (1), p.60-62

1998

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Social and medical need for whole genome high resolution NIPT

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1062-n/a

2020

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Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

The journal of clinical endocrinology and metabolism, 2009-12, Vol.94 (12), p.4717-4727

2009

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Aplasia and hypoplasia of the vestibulocochlear nerve: diagnosis with MR imaging

Radiology, 1997-03, Vol.202 (3), p.773

1997

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The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

Journal of genetic counseling, 2016-12, Vol.25 (6), p.1227-1234

2016

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Cochlear implants in aplasia and hypoplasia of the cochleovestibular nerve

Otology & neurotology, 2003-11, Vol.24 (6), p.887

2003

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Clinical experience of unexpected findings in prenatal array testing

Biomarkers in medicine, 2016-08, Vol.10 (8), p.831-840

2016

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Validation of the French-language version of the OTOSPEECH automated scoring software package for speech audiometry

European annals of otorhinolaryngology, head and neck diseases, 2016-04, Vol.133 (2), p.101-106

2016

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Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

Ultrasound in obstetrics & gynecology, 2014-02, Vol.43 (2), p.139-146

2014

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Omphalocele: comparison of outcome following prenatal or postnatal diagnosis

Ultrasound in obstetrics & gynecology, 2010-12, Vol.36 (6), p.687-692

2010

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Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT

Molecular cytogenetics, 2016-09, Vol.9 (1), p.69-69, Article 69

2016

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The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

Journal of clinical medicine, 2014-07, Vol.3 (3), p.713-723

2014

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Visual depth processing in Williams-Beuren syndrome

Experimental brain research, 2005-10, Vol.166 (2), p.200-209

2005

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C025 Cochlear implanted children outperform Specific language impaired peers on verbal morphology

International journal of pediatric otorhinolaryngology, 2011, Vol.75, p.37-37

2011

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Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2

Genes and immunity, 2010-04, Vol.11 (3), p.246-253

2010

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Audiological findings in large vestibular aqueduct syndrome

International journal of pediatric otorhinolaryngology, 1999-12, Vol.51 (3), p.157-164

1999

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Otosclerosis: a genetically heterogeneous disease involving at least three different genes

Bone (New York, N.Y.), 2002-04, Vol.30 (4), p.624-630

2002

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Outcome of pregnancies complicated by oligohydramnios or anhydramnios of renal origin

Prenatal diagnosis, 2011-11, Vol.31 (11), p.1039-1045

2011

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Fixation of cochlear implants: an evidence-based review of literature

B-ENT (Leuven), 2012-01, Vol.8 (2), p.85-94

2012

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

Clinical genetics, 2021-12, Vol.100 (6), p.647-658

2021

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False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Social and medical need for whole genome high resolution NIPT

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

Aplasia and hypoplasia of the vestibulocochlear nerve: diagnosis with MR imaging

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

Cochlear implants in aplasia and hypoplasia of the cochleovestibular nerve

Clinical experience of unexpected findings in prenatal array testing

Validation of the French-language version of the OTOSPEECH automated scoring software package for speech audiometry

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

Omphalocele: comparison of outcome following prenatal or postnatal diagnosis

Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

Visual depth processing in Williams-Beuren syndrome

C025 Cochlear implanted children outperform Specific language impaired peers on verbal morphology

Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2

Audiological findings in large vestibular aqueduct syndrome

Otosclerosis: a genetically heterogeneous disease involving at least three different genes

Outcome of pregnancies complicated by oligohydramnios or anhydramnios of renal origin

Fixation of cochlear implants: an evidence-based review of literature

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

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