Publications
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Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline Vrije Universiteit Brussel Ghent University
Background: The introduction of next-generation sequencing techniques has substantially increased the identification of new genetic variants and hence the necessity of accurate variant interpretation. In 2015, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology proposed new variant interpretation guidelines. Gene-specific characteristics were, however, not considered, sometimes leading to ...
Editorial overview: Genome studies and molecular genetics : of plant genes, genomes, and genomics Ghent University
Pinpointing molecular mechanisms of long non-coding RNAs : at the crossroads of biochemistry and genetics Ghent University
Ribonucleic acid (RNA) is one of the major molecular biopolymers in all known forms of life. Although originally known for its crucial roles in directing diverse aspects of translation, today it is know its functions extend to other, if not all, areas of cellular biology. This is demonstrated by the fact that although >80% of the genome is pervasively transcribed, only 2% of the genome accounts for protein-coding genes, putting forward the ...
MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER: NEXT GENERATION SEQUENCING AND FACIAL PHENOTYPING IN MEDICAL GENETICS KU Leuven
Despite considerable progress in the genetics of autism spectrum disorder (ASD) in the past decade, molecular diagnostics for patients with ASD remains a great challenge due to the complex genetic architecture of ASD. In clinical genetics, an etiological distinction is usually made between ASD patients with Mendelian causes (i.e. driven by a highly penetrant rare variant) and patients with multifactorial causes (i.e. driven by many genetic ...
Introduction to molecular and clinical genetics of colorectal cancer syndromes Vrije Universiteit Brussel
The understanding of molecular genetics in the field of gastroenterology has rapidly grown over the last two decades. In recent years many genes involved in the disorders of the gastrointestinal (GI) tract such as colorectal cancer (CRC) and inflammatory bowel disease have been identified. The elucidation of the molecular genetics of these diseases made it possible to study the high-penetrance susceptibility genes for disease-causing ...
Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development KU Leuven University of Antwerp
Subjective tinnitus is the perception of sound in the absence of external or bodily-generated sounds. Chronic tinnitus is a highly prevalent condition affecting over 70 million people in Europe. A wide variety of comorbidities, including hearing loss, psychiatric disorders, neurodegenerative disorders, and temporomandibular joint (TMJ) dysfunction, have been suggested to contribute to the onset or progression of tinnitus; however, the precise ...
Molecular genetics of colorectal cancer KU Leuven
Approximately 90% of colorectal cancer cases are sporadic without family history or genetic predisposition, while in less than 10% a causative genetic event has been identified. Historically, colorectal cancer classification was only based on clinical and pathological features. Many efforts have been made to discover the genetic and molecular features of colorectal cancer, and there is more and more evidence that these features determine the ...
Molecular genetics of colorectal cancer University of Antwerp
Approximately 90% of colorectal cancer cases are sporadic without family history or genetic predisposition, while in less than 10% a causative genetic event has been identified. Historically, colorectal cancer classification was only based on clinical and pathological features. Many efforts have been made to discover the genetic and molecular features of colorectal cancer, and there is more and more evidence that these features determine the ...