Research output per year
Research output per year
Personal profile
External positions
Honorary Consultant Clinical Geneticist, University Hospitals Bristol and Weston NHS Foundation Trust
1 Sept 2022 → …
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Dive into the research topics where Karen J Low is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
The Genomics England Research Consortium, Solve-RD consortium & Banka, S., 13 Apr 2023, In: Human Genetics and Genomics Advances. 4, 2, 19 p., 100186.Research output: Contribution to journal › Article (Academic Journal) › peer-review
Open AccessFile1 Citation (Scopus)9 Downloads (Pure) -
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Buijsse, N., Jansen, F. E., Ockeloen, C. W., van Kempen, M. J. A., Zeidler, S., Willemsen, M. H., Scarano, E., Monticone, S., Zonneveld-Huijssoon, E., Low, K. J., Bayat, A., Sisodiya, S. M., Samanta, D., Lesca, G., de Jong, D., Giltay, J. C., Verbeek, N. E., Kleefstra, T., Brilstra, E. H. & Vlaskamp, D. R. M., 27 Jul 2023, (E-pub ahead of print) In: Epilepsia Open.Research output: Contribution to journal › Article (Academic Journal) › peer-review
Open Access -
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
Hamad, A., Sherlaw-Sturrock, C. A., Glover, K., Salmon, R., Low, K., Nair, R., Sansbury, F. H., Rawlins, L. E., Carmichael, J., Horton, R., Wedderburn, S., Edgerley, K., Irving, R., Callaghan, M., Mercer, C., McGowan, R., Robert, L., Titheradge, H. & Naik, S., 1 Apr 2023, In: European Journal of Medical Genetics. 66, 4, 6 p., 104714.Research output: Contribution to journal › Article (Academic Journal) › peer-review