معرفی
Ingrid van de Laar is a researcher in the Department of Clinical Genetics at Erasmus MC, a leading academic medical center in the Netherlands. Her work is centered on the genetic basis of hereditary connective tissue disorders, particularly vascular Ehlers-Danlos syndrome and Loeys-Dietz syndrome. She actively contributes to research on genotype-phenotype correlations, functional genomics using fibroblast models, and clinical natural history studies.
Her research interests include clinical genetics, molecular genetics, vascular diseases, genotype-phenotype correlation, and hereditary connective tissue disorders. She employs fibroblast-based transcriptome and functional analyses to uncover pathogenic mechanisms in genetic conditions, especially where standard DNA testing fails to yield diagnoses.
The recent articles highlight a strong focus on rare genetic syndromes, including SMAD3-related disorders, NF1 variants, and biallelic mutations in genes like PIGB, EFTUD2, and NANS. Her work spans clinical cohort studies, functional validation, and expanding the phenotypic spectrum of known genetic disorders. Many publications involve multidisciplinary collaboration across Dutch and international centers.
She has contributed to high-impact journals such as Circulation: Genomic and Precision Medicine, Journal of Medical Genetics, and Human Molecular Genetics. Her research has been cited in peer-reviewed literature and referenced on platforms including Wikipedia, Mendeley, and X (formerly Twitter), indicating scholarly engagement and visibility.
Ingrid van de Laar supervises research, as indicated by the 'Supervised Work (1)' on her profile. She is involved in doctoral training and likely mentors students in clinical and molecular genetics. Her work is supported by collaborative networks across Erasmus MC and national consortia.
She is part of research teams studying vascular aging, connective tissue disorders, and rare genetic diseases. Her lab or research group likely operates within the Clinical Genetics department at Erasmus MC, collaborating closely with molecular biologists, clinicians, and bioinformaticians to advance diagnosis and understanding of genetic syndromes.
Ingrid van de Laar در سایتهای دیگر
جستوجوهای مرتبط
شاید اینها هم برایتان مناسب باشند
- LLisa van den BersselaarErasmus University Rotterdam · پژوهشگر
- SSanne de KempErasmus University Rotterdam · پژوهشگر
Benedicte PausUniversity of Oslo · استاد- HHennie BrüggenwirthErasmus University Rotterdam · پژوهشگر
- EEllis EikenboomErasmus University Rotterdam · پژوهشگر
- TThomas BossuytErasmus University Rotterdam · پژوهشگر