Dr Karen Low
BSc, MBCHB, PGCert, PGCert, MRCPCH
Current positions
NIHR Clinical Research Fellow
Bristol Medical School (PHS)
Contact
Press and media
Many of our academics speak to the media as experts in their field of research. If you are a journalist, please contact the University’s Media and PR Team:
Publications
Recent publications
01/03/2025Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Genetics in Medicine
BCL11A intellectual developmental disorder
European Journal of Human Genetics
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
Journal of Medical Genetics
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
NPJ Genomic Medicine
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Human Genetics and Genomics Advances
