List of works - Bettina Blaumeiser

A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis

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

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

scientific article published in November 2022

Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)

article

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

scientific article published on 8 September 2014

Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach

scientific article published on 16 September 2019

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

scientific article published on 12 June 2016

Familial aggregation of alopecia areata

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

scientific article published in September 2008

Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance

scientific article

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

scientific article published on 16 June 2020

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

scientific article published on 01 February 2007

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

scientific article

Genetic variants in CTLA4 are strongly associated with alopecia areata

article

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia

scientific article

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.

scientific article published on 25 October 2017

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

scientific article

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

scientific journal article

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

scientific article published on 22 January 2015

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

scientific article published on 26 October 2011

Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.

scientific article published on 16 June 2016

Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata

scientific article published on 22 October 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

Investigation of the HLA-DRB1 locus in alopecia areata.

scientific article

Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease

article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study

scientific article

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

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

scientific article published on 01 March 2020

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

scientific article published on 01 September 2019

Prenatal diagnosis of Pfeiffer syndrome type II

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.

scientific article published on March 2017

Prenatale diagnostiek anno 2015

article published in 2016

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

scientific article published on 21 May 2020

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome

scientific article published on 23 October 2019

Spectrum of Movement Disorders in 18p Deletion Syndrome

scientific article published on 06 December 2018

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

scientific article published on 13 May 2020

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

article

List of works by Bettina Blaumeiser

A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis

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

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach

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

Familial aggregation of alopecia areata

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

Genetic variants in CTLA4 are strongly associated with alopecia areata

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.

Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata

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

Investigation of the HLA-DRB1 locus in alopecia areata.

Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study

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

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Prenatal diagnosis of Pfeiffer syndrome type II

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.

Prenatale diagnostiek anno 2015

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome

Spectrum of Movement Disorders in 18p Deletion Syndrome

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations