Overview

My research seeks to understand how genomic variation contributes to rare, human conditions, particularly those resulting in intellectual disability. I also am interested in describing and expanding the phenotype (i.e., observable traits) of currently annotated conditions. Many of my current projects focus on how genomic variation is detected and interpreted for diagnostics, as well as the health services by which we deliver genetic testing and variant interpretation.

Publications

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
European 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 Muñoz-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 Rosés-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/ehad418
2023

The practice of genomic medicine: A delineation of the process and its governing principles
Frontiers 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.2022.1071348
2023

NOTCH1 loss of the TAD and PEST domain: An antimorph?
American 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.63167
2023

Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype
Neurology: 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.0000000000200114
2023

CTCF governs the identity and migration of MGE-derived cortical interneurons
Journal of Neuroscience
Elbert, A. and Vogt, D. and Watson, A. and Levy, M. and Jiang, Y. and Brûlé, E. and Rowland, M.E. and Rubenstein, J. and Bérubé, N.G.
DOI: 10.1523/JNEUROSCI.3496-17.2018
2019

GnRH neuron-specific ablation of G aq/11 results in only partial inactivation of the neuroendocrine-reproductive axis in both male and female mice: In vivo evidence for kiss1r-coupled G aq/11-independent GnRH secretion
Journal 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.0041-15.2015
2015

Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor
Endocrinology
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 Bérubé, N.G. and Bhattacharya, M. and Watson, A.J. and Seminara, S.B. and Babwah, A.V.
DOI: 10.1210/en.2013-1916
2014

Dual effect of CTCF loss on neuroprogenitor differentiation and survival
Journal of Neuroscience
Watson, L.A. and Wang, X. and Elbert, A. and Kernohan, K.D. and Galjart, N. and Bérubé, N.G.
DOI: 10.1523/JNEUROSCI.3769-13.2014
2014

Genetic variation in the KIAA0319 5' region as a possible contributor to dyslexia
Behavior 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/s10519-010-9434-1
2011

Genetic ablation of CD36 does not alter mouse brain polyunsaturated fatty acid concentrations
Lipids
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-z
2010

Research

Re-analysis of genomic data (undiagnosed patients)
We 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.

Optimizing pathways for genomic testing and diagnosis
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.

Follow-up of diagnosed patients for the purpose of collecting unbiased natural history
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.

Research Group Members

Nathelie Sam, INSPIRE PROGRAM TRAINEE