Dr Karen Low
BSc, MBCHB, PGCert, PGCert, MRCPCH
Current positions
NIHR Clinical Research Fellow
Bristol Medical School (PHS)
Contact
Press and media
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Publications
Recent publications
26/03/2024Expanding 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
Olfactory bulb anomalies in KBG syndrome mouse model and patients
BMC Medicine
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proceedings of the National Academy of Sciences of the United States of America
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