My research interests lie at the interface between health sciences, bioinformatics, and clinical informatics, focusing on methodologies to integrate heterogeneous datasets and facilitate re-use of existing data while ensuring data privacy and security. I believe Clinical Research Informatics is essential to well designed and maintained clinical study. Standardization and harmonization are key to good quality and reusable data collections, which are necessary for the translation of research into improved clinical practices.

All the tools I have participated in developing (Neurocarta, PAZAR,...) are open to the scientific community and the articles describing them published in open-access journals. It is important to me that research results are made available to all as fast as possible.


An Interrupted Time-Series Analysis of Pediatric Emergency Department Visits During the Coronavirus Disease 2019 Pandemic.
Pediatric emergency care
DOI: 10.1097/pec.0000000000002404
PubMed: 34038928

Applications of Aspect-based Sentiment Analysis on Psychiatric Clinical Notes to Study Suicide in Youth.
AMIA ... Annual Symposium proceedings. AMIA Symposium
PubMed: 34457137

Paediatric patients seen in 18 emergency departments during the COVID-19 pandemic.
Emergency medicine journal : EMJ
Goldman RD and Grafstein E and Barclay N and Irvine MA and Portales-Casamar E
DOI: 10.1136/emermed-2020-210273
PubMed: 33127743

What You Need to Know Before Implementing a Clinical Research Data Warehouse: Comparative Review of Integrated Data Repositories in Health Care Institutions.
JMIR formative research
Gagalova KK and Leon Elizalde MA and Portales-Casamar E and Görges M
DOI: 10.2196/17687
PubMed: 32852280

Poor Correlation of Oral Swabs with Esophageal Eosinophil Counts
Avinashi, V. and Chan, J.M. and Bush, J.W. and Vallance, B.A. and Yang, H. and Portales-Casamar, E. and Soller, L. and Mill, C. and Chan, E.S.
DOI: 10.1007/s00455-019-10082-1

Pediatric Eosinophilic Esophagitis Is Associated With Increased Lamina Propria Immunoglobulin G4-Positive Plasma Cells
Journal of pediatric gastroenterology and nutrition
DOI: 10.1097/mpg.0000000000001949

Pediatric eosinophilic esophagitis is associated with increased lamina propria immunoglobulin g4-positive plasma cells
Journal of Pediatric Gastroenterology and Nutrition
Mohammad, N. and Avinashi, V. and Chan, E. and Vallance, B.A. and Portales-Casamar, E. and Bush, J.W.
DOI: 10.1097/MPG.0000000000001949

Data access and usage practices across a cohort of researchers at a large tertiary pediatric hospital: Qualitative survey study
Journal of Medical Internet Research
Ho, H.K.K. and Görges, M. and Portales-Casamar, E.
DOI: 10.2196/medinform.8724

Unpacking the Heterogeneity of Cognitive Functioning in Children and Adolescents with Fetal Alcohol Spectrum Disorder: Determining the Role of Moderators and Strengths
Advances in Neurodevelopmental Disorders
Kaitlyn McLachlan and Angelina Paolozza and Katrina Kully-Martens and Elodie Portales-Casamar and Paul Pavlidis and Gail Andrew and Ana Hanlon-Dearman and Christine Loock and Audrey McFarlane and Sarah M. Nikkel and Jacqueline Pei and Tim F. Oberlander and Dawa Samdup and James N. Reynolds and Carmen Rasmussen
DOI: 10.1007/s41252-017-0034-4

Many Children Referred to a Tertiary Care Pediatric Allergy Clinic Do Not Have an Allergy
Journal of Allergy and Clinical Immunology
Victoria E. Cook and Jordan Yeo and Christopher Mill and Kyla Hildebrand and Elodie Portales-Casamar and Edmond S. Chan
DOI: 10.1016/j.jaci.2016.12.134

DNA methylation signature of human fetal alcohol spectrum disorder.
Epigenetics & chromatin
Portales-Casamar E and Lussier AA and Jones MJ and MacIsaac JL and Edgar RD and Mah SM and Barhdadi A and Provost S and Lemieux-Perreault LP and Cynader MS and Chudley AE and Kobor MS
DOI: 10.1186/s13072-016-0074-4
PubMed: 27358653

Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb
Human Mutation
Powell Patrick Cheng Tan and Sanja Rogic and Anton Zoubarev and Cameron McDonald and Frances Lui and Gayathiri Charathsandran and Matthew Jacobson and Manuel Belmadani and Justin Leong and Thea Van Rossum and Elodie Portales-Casamar and Ying Qiao and Kristina Calli and Xudong Liu and Melissa Hudson and Evica Rajcan-Separovic and ME Suzanne Lewis and Paul Pavlidis
DOI: 10.1002/humu.23011

Profiling placental and fetal DNA methylation in human neural tube defects.
Price EM and Peñaherrera MS and Portales-Casamar E and Pavlidis P and Van Allen MI and McFadden DE and Robinson WP
DOI: 10.1186/s13072-016-0054-8
PubMed: 26889207

RAAV-compatible MiniPromoters for restricted expression in the brain and eye
Molecular Brain
De Leeuw, C.N. and Korecki, A.J. and Berry, G.E. and Hickmott, J.W. and Lam, S.L. and Lengyell, T.C. and Bonaguro, R.J. and Borretta, L.J. and Chopra, V. and Chou, A.Y. and D'Souza, C.A. and Kaspieva, O. and Laprise, S. and McInerny, S.C. and Portales-Casamar, E. and Swanson-Newman, M.I. and Wong, K. and Yang, G.S. and Zhou, M. and Jones, S.J.M. and Holt, R.A. and Asokan, A. and Goldowitz, D. and Wasserman, W.W. and Simpson, E.M.
DOI: 10.1186/s13041-016-0232-4

A SNP in the HTT promoter alters NF-¿B binding and is a bidirectional genetic modifier of Huntington disease.
Becanovic K and Nørremølle A and Neal SJ and Kay C and Collins JA and Arenillas D and Lilja T and Gaudenzi G and Manoharan S and Doty CN and Beck J and Lahiri N and Portales-Casamar E and Warby SC and Connolly C and De Souza RA and REGISTRY Investigators of the European Huntington's Disease Network and Tabrizi SJ and Hermanson O and Langbehn DR
DOI: 10.1038/nn.4014
PubMed: 25938884

Sharing with More Caring: Coordinating and Improving the Ethical Governance of Data and Biomaterials Obtained from Children.
Longstaff H and Khramova V and Portales-Casamar E and Illes J
DOI: 10.1371/journal.pone.0130527
PubMed: 26132205

LORIS: Enhanced tools for data management in neurodevelopmental studies
International Journal of Developmental Neuroscience
C. Rogers and P. Kostopoulos and D. McFarlane and Z. Mohades and D. Brien and N. St-Georges and E. Portales-Casamar and S. Das and A. Evans
DOI: 10.1016/j.ijdevneu.2015.04.334

Communication error analysis of sleep/wake-behaviour assessments: The need for optimizing communication and data gathering with new technologies
Sleep Medicine
G. McAllister and D. Elbe and N. De Pietro and E. Portales-casamar and D. Lin and T. Rosenfeld and D. Penn and S. Stockler and D. Mount and O. Ipsiroglu
DOI: 10.1016/j.sleep.2015.02.1492

DNA methylation changes in fetal alcohol spectrum disorder
International Journal of Developmental Neuroscience
Elodie Portales-Casamar and Sarah M. Mah and Julie L. MacIsaac and Amina Barhdadi and Sylvie Provost and Marie-Pierre Dubé and James N. Reynolds and Paul Pavlidis and Michael S. Kobor
DOI: 10.1016/j.ijdevneu.2015.04.336

Targeted CNS Delivery Using Human MiniPromoters and Demonstrated Compatibility with Adeno-Associated Viral Vectors.
de Leeuw CN and Dyka FM and Boye SL and Laprise S and Zhou M and Chou AY and Borretta L and McInerny SC and Banks KG and Portales-Casamar E and Swanson MI and D'Souza CA and Boye SE and Jones SJ and Holt RA and Goldowitz D and Hauswirth WW and Wasserman WW and Simpson EM
DOI: 10.1038/mtm.2013.5
PubMed: 24761428

Meta-analysis of human methylomes reveals stably methylated sequences surrounding CpG islands associated with high gene expression.
Edgar R and Tan PP and Portales-Casamar E and Pavlidis P
DOI: 10.1186/1756-8935-7-28
PubMed: 25493099

Neurocarta: online platform for integration and sharing of phenotypic and genomics information
Frontiers in Neuroinformatics
Portales-Casamar Elodie and Ch’ng Carolyn and Lui Frances and St-Georges Nicolas and Zoubarev Anton and Pavlidis Paul
DOI: 10.3389/conf.fninf.2014.08.00025

Non-coding-regulatory regions of human brain genes delineated by bacterial artificial chromosome knock-in mice.
Schmouth JF and Castellarin M and Laprise S and Banks KG and Bonaguro RJ and McInerny SC and Borretta L and Amirabbasi M and Korecki AJ and Portales-Casamar E and Wilson G and Dreolini L and Jones SJ and Wasserman WW and Goldowitz D and Holt RA and Simpson EM
DOI: 10.1186/1741-7007-11-106
PubMed: 24124870

Neurocarta: Aggregating and sharing disease-gene relations for the neurosciences
BMC Genomics
Portales-Casamar, E. and Ch'ng, C. and Lui, F. and St-Georges, N. and Zoubarev, A. and Lai, A.Y. and Lee, M. and Kwok, C. and Kwok, W. and Tseng, L. and Pavlidis, P.
DOI: 10.1186/1471-2164-14-129

The transcription factor encyclopedia.
Yusuf D and Butland SL and Swanson MI and Bolotin E and Ticoll A and Cheung WA and Zhang XY and Dickman CT and Fulton DL and Lim JS and Schnabl JM and Ramos OH and Vasseur-Cognet M and de Leeuw CN and Simpson EM and Ryffel GU and Lam EW and Kist R and Wilson MS and Marco-Ferreres R
DOI: 10.1186/gb-2012-13-3-r24
PubMed: 22458515

The NeuroDevNet Neuroinformatics Core.
Portales-Casamar E and Evans A and Wasserman W and Pavlidis P
DOI: 10.1016/j.spen.2011.02.001
PubMed: 21575836

MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model.
Le Béchec A and Portales-Casamar E and Vetter G and Moes M and Zindy PJ and Saumet A and Arenillas D and Theillet C and Wasserman WW and Lecellier CH and Friederich E
DOI: 10.1186/1471-2105-12-67
PubMed: 21375730

A regulatory toolbox of MiniPromoters to drive selective expression in the brain.
Portales-Casamar E and Swanson DJ and Liu L and de Leeuw CN and Banks KG and Ho Sui SJ and Fulton DL and Ali J and Amirabbasi M and Arenillas DJ and Babyak N and Black SF and Bonaguro RJ and Brauer E and Candido TR and Castellarin M and Chen J and Chen Y and Cheng JC and Chopra V
DOI: 10.1073/pnas.1009158107
PubMed: 20807748

Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis.
Malhotra D and Portales-Casamar E and Singh A and Srivastava S and Arenillas D and Happel C and Shyr C and Wakabayashi N and Kensler TW and Wasserman WW and Biswal S
DOI: 10.1093/nar/gkq212
PubMed: 20460467

Laboratory Animal Management Assistant (LAMA): a LIMS for active research colonies.
Milisavljevic M and Hearty T and Wong TY and Portales-Casamar E and Simpson EM and Wasserman WW
DOI: 10.1007/s00335-010-9258-6
PubMed: 20411264

JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles.
Portales-Casamar E and Thongjuea S and Kwon AT and Arenillas D and Zhao X and Valen E and Yusuf D and Lenhard B and Wasserman WW and Sandelin A
DOI: 10.1093/nar/gkp950
PubMed: 19906716

The PAZAR database of gene regulatory information coupled to the ORCA toolkit for the study of regulatory sequences.
Portales-Casamar E and Arenillas D and Lim J and Swanson MI and Jiang S and McCallum A and Kirov S and Wasserman WW
DOI: 10.1093/nar/gkn783
PubMed: 18971253

Transcriptional repression of microRNA genes by PML-RARA increases expression of key cancer proteins in acute promyelocytic leukemia.
Saumet A and Vetter G and Bouttier M and Portales-Casamar E and Wasserman WW and Maurin T and Mari B and Barbry P and Vallar L and Friederich E and Arar K and Cassinat B and Chomienne C and Lecellier CH
DOI: 10.1182/blood-2008-05-158139
PubMed: 18941112

ORegAnno: an open-access community-driven resource for regulatory annotation.
Griffith OL and Montgomery SB and Bernier B and Chu B and Kasaian K and Aerts S and Mahony S and Sleumer MC and Bilenky M and Haeussler M and Griffith M and Gallo SM and Giardine B and Hooghe B and Van Loo P and Blanco E and Ticoll A and Lithwick S and Portales-Casamar E and Donaldson IJ
DOI: 10.1093/nar/gkm967
PubMed: 18006570

Identification of a set of genes showing regionally enriched expression in the mouse brain.
D'Souza CA and Chopra V and Varhol R and Xie YY and Bohacec S and Zhao Y and Lee LL and Bilenky M and Portales-Casamar E and He A and Wasserman WW and Goldowitz D and Marra MA and Holt RA and Simpson EM and Jones SJ
DOI: 10.1186/1471-2202-9-66
PubMed: 18625066

Trio controls the mature organization of neuronal clusters in the hindbrain.
Backer S and Hidalgo-Sánchez M and Offner N and Portales-Casamar E and Debant A and Fort P and Gauthier-Rouvière C and Bloch-Gallego E
DOI: 10.1523/JNEUROSCI.1102-07.2007
PubMed: 17898204

Trio Controls the Mature Organization of Neuronal Clusters in the Hindbrain
Journal of Neuroscience
S. Backer and M. Hidalgo-Sanchez and N. Offner and E. Portales-Casamar and A. Debant and P. Fort and C. Gauthier-Rouviere and E. Bloch-Gallego
DOI: 10.1523/jneurosci.1102-07.2007

M-cadherin activates Rac1 GTPase through the Rho-GEF trio during myoblast fusion.
Charrasse S and Comunale F and Fortier M and Portales-Casamar E and Debant A and Gauthier-Rouvière C
DOI: 10.1091/mbc.E06-08-0766
PubMed: 17332503

M-Cadherin Activates Rac1 GTPase through the Rho-GEF Trio during Myoblast Fusion
Molecular Biology of the Cell
S. Charrasse and F. Comunale and M. Fortier and E. Portales-Casamar and A. Debant and C. Gauthier-Rouviere
DOI: 10.1091/mbc.e06-08-0766

PAZAR: a framework for collection and dissemination of cis-regulatory sequence annotation.
Portales-Casamar E and Kirov S and Lim J and Lithwick S and Swanson MI and Ticoll A and Snoddy J and Wasserman WW
DOI: 10.1186/gb-2007-8-10-r207
PubMed: 17916232

Erratum: Trio controls the mature organization of neuronal clusters in the hindbrain (Journal of Neuroscience (2007) (10323-10332))
Journal of Neuroscience
Backer, S. and Hidalgo-Sánchez, M. and Offner, N. and Portales-Casamar, E. and Debant, A. and Fort, P. and Gauthier-Rouvière, C. and Bloch-Gallego, E.

Identification of novel neuronal isoforms of the Rho-GEF Trio.
Portales-Casamar E and Briançon-Marjollet A and Fromont S and Triboulet R and Debant A
DOI: 10.1042/BC20050009
PubMed: 16033331

Identification of novel neuronal isoforms of the Rho-GEF Trio
Biology of the Cell
Elodie Portales-Casamar and Anne Briançon-Marjollet and Sylvie Fromont and Robinson Triboulet and Anne Debant
DOI: 10.1042/bc20050009

The antidepressant-like effect induced by the sigma(1) (sigma(1)) receptor agonist igmesine involves modulation of intracellular calcium mobilization.
Urani A and Romieu P and Portales-Casamar E and Roman FJ and Maurice T
DOI: 10.1007/s00213-002-1150-y
PubMed: 12185397

Human p63RhoGEF, a novel RhoA-specific guanine nucleotide exchange factor, is localized in cardiac sarcomere.
Souchet M and Portales-Casamar E and Mazurais D and Schmidt S and Léger I and Javré JL and Robert P and Berrebi-Bertrand I and Bril A and Gout B and Debant A and Calmels TP
PubMed: 11861769

Human p63RhoGEF, a novel RhoA-specific guanine nucleotide exchange factor, is localized in cardiac sarcomere
Journal of Cell Science
Souchet, M. and Portales-Casamar, E. and Mazurais, D. and Schmidt, S. and Léger, I. and Javré, J.-L. and Robert, P. and Berrebi-Bertrand, I. and Bril, A. and Gout, B. and Debant, A. and Calmels, T.P.G.

Trio: A multidomain guanine nucleotide exchange factor for Rho GTPases involved in axonal development,Trio: Un facteur d'échange des GTPases Rho aux multiples facettes impliqué dans le guidage axonal
Bellanger, J.-M. and Schmidt, S. and Estrach, S. and Portales-Casamar, E. and Diriong, S. and Debant, A.
DOI: 10.1051/medsci/200117121316


Integrated Clinical Research Architecture Implementation - Technical Proof-of-Concept
There is a need for translational research infrastructure that enables interoperability between clinical and research systems, as well as between jurisdictions. We propose to demonstrate the utility and feasibility of a Canadian translational research informatics infrastructure by implementing the informatics Integrating Biology & the Bedside (i2b2) data warehousing framework. As a proof-of-concept, we will focus on two academic health institutions from two provinces (CFRI, BC & WCHRI, AB) and one health domain (diabetes).

Research Group Members

Ahmed Aburaed
Taqdir Ali, Postdoctoral Fellow
Amy George, Co-op Student
Almas Khan, Graduate Research Assistant
Leena Mazhar
Cindy Ou Yang, Co-op Student
Yuqian Zhuang, Student
Tibor van Rooij, Lead, Digital Health Research Initiative