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.


Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
European Heart Journal
lia crotti and carla spazzolini and Mette Nyegaard and Michael Toft Overgaard and Maria-Christina Kotta and Federica Dagradi and Luca Sala and Takeshi Aiba and Mark Ayers and Anwar Baban and julien barc and Cheyenne Beach and Elijah Behr and Johan Bos and Marina Cerrone and Peter Covi and Bettina Cuneo and ISABELLE DENJOY and Birgit Donner and Adrienne Elbert and håkan eliasson and Susan P. Etheridge and MEGUMI FUKUYAMA and Francesca Girolami and Robert Hamilton and Minoru Horie and Maria Iascone and Juan Jiménez-Jáimez and Henrik Kjærulf Jensen and Prince Kannankeril and Juan Pablo Kaski and Naomasa Makita and Carmen Muñoz Esparza and Hans Henrik Odland and Seiko Ohno and John Papagiannis and Alessandra Pia Porretta and Christoph Prandstetter and Vincent Probst and Tomas Robyns and Eric Rosenthal and Ferran Roses-Noguer and Nicole Sekarski and Anoop K Singh and Georgia Spentzou and Fridrike Stute and Jacob Tfelt-Hansen and Jan Till and Kathryn E Tobert and Jeffrey M Vinocur and Greg
DOI: 10.1093/eurheartj/ehad418

The practice of genomic medicine: A delineation of the process and its governing principles
Frontiers in Medicine
DOI: 10.3389/fmed.2022.1071348

NOTCH1 loss of the TAD and PEST domain: An antimorph?
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.63167

CTCF governs the identity and migration of MGE-derived cortical interneurons
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.3496-17.2018

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
DOI: 10.1523/JNEUROSCI.0041-15.2015

Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor
DOI: 10.1210/en.2013-1916

Dual effect of CTCF loss on neuroprogenitor differentiation and survival
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.3769-13.2014

Genetic variation in the KIAA0319 5' region as a possible contributor to dyslexia
Behavior Genetics
DOI: 10.1007/s10519-010-9434-1

Genetic ablation of CD36 does not alter mouse brain polyunsaturated fatty acid concentrations
DOI: 10.1007/s11745-010-3398-z


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.