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

Human reproduction (Oxford), 2018-10, Vol.33 (12), p.2302-2311

2018

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Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

American journal of human genetics, 2006-03, Vol.78 (3), p.510-519

2006

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Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

EClinicalMedicine, 2021-05, Vol.35, p.100856-100856, Article 100856

2021

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Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology

Nature communications, 2024-03, Vol.15 (1), p.2220-2220, Article 2220

2024

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NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations

European journal of medical genetics, 2023-04, Vol.66 (4), p.104713-104713, Article 104713

2023

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Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

Genetics in medicine, 2020-05, Vol.22 (5), p.962-973

2020

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Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

JAMA oncology, 2015-09, Vol.1 (6), p.814

2015

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8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder

Neurogenetics, 2021-07, Vol.22 (3), p.207-213

2021

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3492-3504

2022

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Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets

Npj genomic medicine, 2022-09, Vol.7 (1), p.55-55, Article 55

2022

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A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Molecular cytogenetics, 2021-03, Vol.14 (1), p.18-18, Article 18

2021

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Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

JMIR medical informatics, 2021-07, Vol.9 (7), p.e27980-e27980

2021

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Mutation analysis of the GJB2 (Connexin 26) gene in Egypt

Human mutation, 2005-07, Vol.26 (1), p.60-61

2005

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Expanding the phenotype of copy number variations involving NR0B1 (DAX1)

European journal of human genetics : EJHG, 2024-04, Vol.32 (4), p.421-425

2024

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A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36

American journal of human genetics, 2001-02, Vol.68 (2), p.495-500

2001

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Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia

Human genetics, 2023-09, Vol.142 (9), p.1417-1427

2023

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Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1323-1330

2022

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Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?

Prenatal diagnosis, 2021-09, Vol.41 (10), p.1264-1272

2021

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

Human reproduction (Oxford), 2018-12, Vol.33 (12), p.2302-2311

2018

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Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

European journal of human genetics : EJHG, 2024-01, Vol.32 (1), p.31-36

2024

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

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1286-1293

2015

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

Genetics in medicine, 2017-03, Vol.19 (3), p.306-313

2017

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Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

Prenatal diagnosis, 2018-03, Vol.38 (4), p.258-266

2018

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What helps define outcomes in persistent uninterpretable non‐invasive prenatal testing: Maternal factors, fetal fraction or quality scores?

Prenatal diagnosis, 2023-09, Vol.43 (10), p.1333-1343

2023

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

Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology

NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

Mutation analysis of the GJB2 (Connexin 26) gene in Egypt

Expanding the phenotype of copy number variations involving NR0B1 (DAX1)

A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?

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

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

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

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

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

What helps define outcomes in persistent uninterpretable non‐invasive prenatal testing: Maternal factors, fetal fraction or quality scores?

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