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Dr Karen J Low

BSc, MBCHB, PGCert, PGCert, MRCPCH

 https://orcid.org/0000-0002-4975-9363

  • BS8 2PS

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External positions

Honorary Consultant Clinical Geneticist, University Hospitals Bristol and Weston NHS Foundation Trust

1 Sept 2022 → …

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Collaborations and top research areas from the last five years

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  • Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

    Mak, C. C. Y., Klinkhammer, H., Choufani, S., Reko, N., Christman, A. K., Pisan, E., Chui, M. M. C., Lee, M., Leduc, F., Dempsey, J. C., Sanchez-Lara, P. A., Bombei, H. M., Bernat, J. A., Faivre, L., Mau-Them, F. T., Palafoll, I. V., Canham, N., Sarkar, A., Zarate, Y. A. & Callewaert, B. & 21 others, Bukowska-Olech, E., Jamsheer, A., Zankl, A., Willems, M., Duncan, L., Isidor, B., Cogne, B., Boute, O., Vanlerberghe, C., Goldenberg, A., Stolerman, E., Low, K. J., Gilard, V., Amiel, J., Lin, A. E., Gordon, C. T., Doherty, D., Krawitz, P. M., Weksberg, R., Hsieh, T. C. & Chung, B. H. Y., 1 May 2025, In: eBioMedicine. 115, 105677.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    Open Access

  • Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

    Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S.-M., Mendes, A. C., Saraiva, J. M., Hammer, T. B., Nazaryan-Petersen, L., Barakat, T. S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R. C., Li, D., Nomakuchi, T., Brilstra, E. H. & Hunt, D. & 51 others, Johnson, D., Mansour, S., Oprych, K., Mehta, S. G., Platzer, K., Schnabel, F., Kiep, H., Faust, H., Prinzing, G., Wiltrout, K., Radley, J. A., Serrano Russi, A. H., Atallah, I., Campos-Xavier, B., Amor, D. J., Morgan, A., Fagerberg, C., Andersen, U. A., Andersen, C. B., Bijlsma, E. K., Bird, L. M., Mullegama, S. V., Green, A., Isidor, B., Cogné, B., Kenny, J., Lynch, S. A., Quin, S., Low, K., Herget, T., Kortüm, F., Levy, R. J., Morrison, J. L., Wheeler, P. G., Narumanch, T. C., Peron, K., Matthews, N., Uhlman, J., Bell, L., Pang, L., Scurr, I., Belles, R. S., Salbert, B. A., Schaefer, G. B., Green, S., Ros, A., Rodríguez-Palmero, A., Višnjar, T., Writzl, K., Vasudevan, P. C. & Balasubramanian, M., 1 Mar 2025, In: Genetics in Medicine. 27, 3, 17 p., 101348.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    Open Access
    1 Citation (Scopus)

  • Familial Prenatal Total Anomalous Pulmonary Venous Drainage: Genetic Implications and Multimodal Echocardiographic and MRI Assessment

    Granozio, G., Velasco Forte, M. N., Egloff, A., Woodgate, T., Low, K. J., Kavasoglu, A. N., Bellsham-Revell, H., Pushparajah, K., Vazquez-Garcia, L. & Lloyd, D. F. A., 6 Aug 2025, In: JACC: Case Reports. 30, 22, 7 p., 104551.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    Open Access
View all 52 research outputs