Adrienne Elbert
MD, PhD
Investigator and Medical Geneticist, BC Children's Hospital
Genetics in Medicine
Frost, F.G. and Gu, S. and Elbert, A. and Huynh, S. and Lee, H.K. and Malicdan, M.C.V. and Boerkoel, C.F. and Cherukuri, P.F.
DOI: 10.1016/j.gim.2025.101520European Heart Journal
Crotti, L. and Spazzolini, C. and Nyegaard, M. and Overgaard, M.T. and Kotta, M.-C. and Dagradi, F. and Sala, L. and Aiba, T. and Ayers, M.D. and Baban, A. and Barc, J. and Beach, C.M. and Behr, E.R. and Bos, J.M. and Cerrone, M. and Covi, P. and Cuneo, B. and Denjoy, I. and Donner, B. and Elbert, A. and Eliasson, H. and Etheridge, S.P. and Fukuyama, M. and Girolami, F. and Hamilton, R. and Horie, M. and Iascone, M. and Jaimez, J.J. and Jensen, H.K. and Kannankeril, P.J. and Kaski, J.P. and Makita, N. and Muoz-Esparza, C. and Odland, H.H. and Ohno, S. and Papagiannis, J. and Porretta, A.P. and Prandstetter, C. and Probst, V. and Robyns, T. and Rosenthal, E. and Ross-Noguer, F. and Sekarski, N. and Singh, A. and Spentzou, G. and Stute, F. and Tfelt-Hansen, J. and Till, J. and Tobert, K.E. and Vinocur, J.M. and Webster, G. and Wilde, A.A.M. and Wolf, C.M. and Ackerman, M.J. and Schwartz, P.J.
DOI: 10.1093/eurheartj/ehad418Frontiers in Medicine
Handra, J. and Elbert, A. and Gazzaz, N. and Moller-Hansen, A. and Hyunh, S. and Lee, H.K. and Boerkoel, P. and Alderman, E. and Anderson, E. and Clarke, L. and Hamilton, S. and Hamman, R. and Hughes, S. and Ip, S. and Langlois, S. and Lee, M. and Li, L. and Mackenzie, F. and Patel, M.S. and Prentice, L.M. and Sangha, K. and Sato, L. and Seath, K. and Seppelt, M. and Swenerton, A. and Warnock, L. and Zambonin, J.L. and Boerkoel, C.F. and Chin, H.-L. and Armstrong, L.
DOI: 10.3389/fmed.2022.1071348American Journal of Medical Genetics, Part A
Boerkoel, P. and Huynh, S. and Yang, G.X. and Boerkoel, C.F. and Patel, M.S. and Lehman, A. and Terry, J. and Elbert, A.
DOI: 10.1002/ajmg.a.63167Neurology: Genetics
Elbert, A. and Dixon, K. and Shen, Y. and Hamilton, S. and Boerkoel, C.F. and Jones, S.J. and Kanungo, A.K.
DOI: 10.1212/NXG.0000000000200114Journal of Neuroscience
Elbert, A. and Vogt, D. and Watson, A. and Levy, M. and Jiang, Y. and Brl, E. and Rowland, M.E. and Rubenstein, J. and Brub, N.G.
DOI: 10.1523/JNEUROSCI.3496-17.2018Journal of Neuroscience
Babwah, A.V. and Navarro, V.M. and Ahow, M. and Pampillo, M. and Nash, C. and Fayazi, M. and Calder, M. and Elbert, A. and Urbanski, H.F. and Wettschureck, N. and Offermanns, S. and Carroll, R.S. and Bhattacharya, M. and Tobet, S.A. and Kaiser, U.B.
DOI: 10.1523/JNEUROSCI.0041-15.2015Endocrinology
Calder, M. and Chan, Y.-M. and Raj, R. and Pampillo, M. and Elbert, A. and Noonan, M. and Gillio-Meina, C. and Caligioni, C. and Brub, N.G. and Bhattacharya, M. and Watson, A.J. and Seminara, S.B. and Babwah, A.V.
DOI: 10.1210/en.2013-1916Journal of Neuroscience
Watson, L.A. and Wang, X. and Elbert, A. and Kernohan, K.D. and Galjart, N. and Brub, N.G.
DOI: 10.1523/JNEUROSCI.3769-13.2014Behavior Genetics
Elbert, A. and Lovett, M.W. and Cate-Carter, T. and Pitch, A. and Kerr, E.N. and Barr, C.L.
DOI: 10.1007/s10519-010-9434-1Lipids
Song, B.J. and Elbert, A. and Rahman, T. and Orr, S.K. and Chen, C.T. and Febbraio, M. and Bazinet, R.P.
DOI: 10.1007/s11745-010-3398-zWe are finding that diagnoses were missed in about 10% due to pipeline differences. Through this project, several themes emerged as common pitfalls, including non-parsimony and unclear variant/ disease mechanisms, which lead to incorrect clinical conclusions. In addition, the undiagnosed patient population appears to be enriched for dual molecular diagnoses.
It is not clear what technologies, testing, and processes allow for timely diagnoses. I have several projects seeking to understand best practices in these areas to improve diagnostic yield and time-to-diagnosis.
We will establish a clinical patient database at the Provincial Medical Genetics Program to support health services and track patients longitudinally. The outcomes will improve our understanding of these rare conditions and the accuracy of information provided to families at time of diagnosis. I hope that ultimately tracking patients systematically allows for redirecting of patients to precision therapies.
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