Wolfram Demaerel

KU Leuven — Belgium

Biochemistry, Genetics and Molecular Biology · Life Sciences

7h-index327citations18works0.02yr avg
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Research Topics

Congenital heart defects research(15), Genomic variations and chromosomal abnormalities(8), Chromosomal and Genetic Variations(5), Congenital Heart Disease Studies(2), Coronary Artery Anomalies(2)

Publications16 total

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Molecular Psychiatry·2020· 132 citedOpen Access
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
Genetics in Medicine·2019· 24 citedOpen Access
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
Genome Research·2019· 61 citedOpen Access
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins
Human Molecular Genetics·2019· 10 citedOpen Access
The 22q11 low copy repeats are characterized by unprecedented size and structure variability
2018· 19 citedOpen Access
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
The American Journal of Human Genetics·2018· 2 citedOpen Access
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Human Molecular Genetics·2018· 28 citedOpen Access
RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
The American Journal of Human Genetics·2017· 7 citedOpen Access
Nested inversion polymorphisms predispose for chromosome 22q11.2 rearrangements
2017
An inversion polymorphism on chromosome 22q11.2 predisposes for 22q11 deletions
Abstract book·2016
Haploinsufficiency of TBX1 is not responsible for facial dysmorphology in patients with 22q11.2 deletion syndrome
Lirias (KU Leuven)·2016Open Access
Genotype-phenotype correlations in atypical 22q11.2 deletions: the role of TBX1
Genetic counseling·2016
Deletion of TBX1 is not responsible for facial dysmorphology in patients with 22q11.2 deletion syndrome
Abstract book·2016
Long Read Sequencing of Single Microdisscted Chromosomes enables targeted genotyping
Abstract book·2016
Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents
Cytogenetic and Genome Research·2016· 35 cited
Absence of Nested Inversion Polymorphism at 22q11.2
Abstract book·2015

Frequent Co-authors

Joris Vermeesch(15), Ann Swillen(12), Matthew S. Hestand(11), Elfi Vergaelen(11), Donna M. McDonald‐McGinn(10), Bernice E. Morrow(9), Koenraad Devriendt(8), Beverly S. Emanuel(8), Jeroen Breckpot(7), Elaine H. Zackai(7), Jacob Vorstman(5), T. Blaine Crowley(5), Carrie E. Bearden(4), Tingwei Guo(4), Marta Unolt(4), Gabriela M. Repetto(4), Ania Fiksinski(4), Leila Kushan(4), Maude Schneider(4), Anne S. Bassett(4)