Overview

Dr. Matthews is part of a larger, highly collaborative team which combines the expertise of clinicians, bioinformaticians and basic science researchers to help diagnose patients with rare genetics diseases. When conventional analysis is unable to find the cause of a patient's disease, the team uses whole genome and exome sequencing to search for what could be a mistake as small as one letter in the 3 billion letters that make up the genome. As a bioinformation, Dr. Matthews's role is to use computers to help sort through the data and then to apply genetics to prioritize potential causes for each patients. Dr. Matthews has a focus on disease on the X chromosome as well as patients with intellectual disability, metabolic disorders and atypical cerebral palsy.

Publications

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
European Journal of Medical Genetics
A.M. Matthews, M. Tarailo-Graovac, E.M. Price, I. Blydt-Hansen, A. Ghani, B.I. Drögemöller, W.P. Robinson, C.J. Ross, W.W. Wasserman, H. Siden, C.D. van Karnebeek
DOI: 10.1016/j.ejmg.2017.07.015
10/2017

Bone health and SATB2-associated syndrome
Clinical Genetics
Yuri A. Zarate, Michelle Steinraths, Allison Matthews, Wendy Smith, Angela Sun, Louise C. Wilson, Caroline Brain, Jeremy Allgove, Benjamin Jacobs, Jennifer L. Fish, Cynthia M. Powell, Wyeth Wasserman, Clara Van Karnebeek, Emma L. Wakeling, Nina S. Ma
DOI: 10.1111/cge.13121
08/2017

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
GENETICS in MEDICINE
Maja Tarailo-Graovac, Jing Yun Alice Zhu, Allison Matthews, Clara D M van Karnebeek, Wyeth W Wasserman
DOI: 10.1038/gim.2017.50
05/2017

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction
Molecular Genetics and Metabolism
Päivi Vieira, Jessie Cameron, Elisa Rahikkala, Riikka Keski-Filppula, Lin-Hua Zhang, Saikat Santra, Allison Matthews, Päivi Myllynen, Matti Nuutinen, Jukka S. Moilanen, Richard J. Rodenburg, Arndt Rolfs, Johanna Uusimaa, Clara D.M. van Karnebeek
DOI: 10.1016/j.ymgme.2017.02.003
04/2017

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses
Scientific Reports
Chih-yu Chen, Wenqiang Shi, Bradley P. Balaton, Allison M. Matthews, Yifeng Li, David J. Arenillas, Anthony Mathelier, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Yoshihide Hayashizaki, Piero Carninci, Alistair R. R. Forrest, Carolyn J. Brown, Wyeth W. Wasserman
DOI: 10.1038/srep37324
11/2016

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
Molecular Case Studies
Stephanie C. Bourne and Katelin N. Townsend and Casper Shyr and Allison Matthews and Scott A. Lear and Raj Attariwala and Anna Lehman and Wyeth W. Wasserman and Clara van Karnebeek and Graham Sinclair and Hilary Vallance and William T. Gibson
DOI: 10.1101/mcs.a001156
10/2016

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Molecular Genetics and Metabolism
Gabriella A. Horvath, Michelle Demos, Casper Shyr, Allison Matthews, Linhua Zhang, Simone Race, Sylvia Stockler-Ipsiroglu, Margot I. Van Allen, Ogan Mancarci, Lilah Toker, Paul Pavlidis, Colin J. Ross, Wyeth W. Wasserman, Natalie Trump, Simon Heales, Simon Pope, J. Helen Cross, Clara D.M. van Karnebeek
DOI: 10.1016/j.ymgme.2015.11.008
01/2016

Derivation of consensus inactivation status for X-linked genes from genome-wide studies
Biology of Sex Differences
Bradley P. Balaton, Allison M. Cotton, Carolyn J. Brown
DOI: 10.1186/s13293-015-0053-7
2015

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
Human Molecular Genetics
Allison M. Cotton, E. Magda Price, Meaghan J. Jones, Bradley P. Balaton, Michael S. Kobor, Carolyn J. Brown
DOI: 10.1093/hmg/ddu564
11/2014

Differentially methylated CpG island within human XIST mediates alternative P2 transcription and YY1 binding
BMC Genetics
Andrew G Chapman, Allison M Cotton, Angela D Kelsey, Carolyn J Brown
DOI: 10.1186/s12863-014-0089-4
09/2014

Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expressionProspects & Overviews
BioEssays
Samantha B. Peeters, Allison M. Cotton, Carolyn J. Brown
DOI: 10.1002/bies.201400032
06/2014

DNA Methylation Is Globally Disrupted and Associated with Expression Changes in Chronic Obstructive Pulmonary Disease Small Airways
American Journal of Respiratory Cell and Molecular Biology
Emily A. Vucic, Raj Chari, Kelsie L. Thu, Ian M. Wilson, Allison M. Cotton, Jennifer Y. Kennett, May Zhang, Kim M. Lonergan, Katrina Steiling, Carolyn J. Brown, Annette McWilliams, Keishi Ohtani, Marc E. Lenburg, Don D. Sin, Avrum Spira, Calum E. MacAulay, Stephen Lam, Wan L. Lam
DOI: 10.1165/rcmb.2013-0304oc
05/2014

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains
Human Molecular Genetics
Allison M. Cotton, Chih-Yu Chen, Lucia L. Lam, Wyeth W. Wasserman, Michael S. Kobor, Carolyn J. Brown
DOI: 10.1093/hmg/ddt513
10/2013

Translating dosage compensation to trisomy 21
Nature
Jun Jiang, Yuanchun Jing, Gregory J. Cost, Jen-Chieh Chiang, Heather J. Kolpa, Allison M. Cotton, Dawn M. Carone, Benjamin R. Carone, David A. Shivak, Dmitry Y. Guschin, Jocelynn R. Pearl, Edward J. Rebar, Meg Byron, Philip D. Gregory, Carolyn J. Brown, Fyodor D. Urnov, Lisa L. Hall, Jeanne B. Lawrence
DOI: 10.1038/nature12394
07/2013

X-Chromosome Inactivation
Epigenetics and Complex Traits
Wendy P. Robinson, Allison M. Cotton, Maria S. Peñaherrera, Samantha B. Peeters, Carolyn J. Brown
DOI: 10.1007/978-1-4614-8078-5_3
2013

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome
Genome Biology
Allison M Cotton, Bing Ge, Nicholas Light, Veronique Adoue, Tomi Pastinen, Carolyn J Brown
DOI: 10.1186/gb-2013-14-11-r122
2013

XIST-induced silencing of flanking genes is achieved by additive action of repeat a monomers in human somatic cells
Epigenetics & Chromatin
Jakub Minks, Sarah EL Baldry, Christine Yang, Allison M Cotton, Carolyn J Brown
DOI: 10.1186/1756-8935-6-23
2013

Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array
Epigenetics & Chromatin
Magda E Price, Allison M Cotton, Lucia L Lam, Pau Farré, Eldon Emberly, Carolyn J Brown, Wendy P Robinson, Michael S Kobor
DOI: 10.1186/1756-8935-6-4
2013

Targeting of >1.5 Mb of Human DNA into the Mouse X Chromosome Reveals Presence of cis -Acting Regulators of Epigenetic Silencing
Genetics
Christine Yang, Andrea J. McLeod, Allison M. Cotton, Charles N. de Leeuw, Stéphanie Laprise, Kathleen G. Banks, Elizabeth M. Simpson, Carolyn J. Brown
DOI: 10.1534/genetics.112.143743
09/2012

Different measures of “genome-wide” DNA methylation exhibit unique properties in placental and somatic tissues
Epigenetics
E. Magda Price, Allison M. Cotton, Maria S. Peñaherrera, Deborah E. McFadden, Michael S. Kobor, Wendy Robinson
DOI: 10.4161/epi.20221
06/2012

X-chromosome inactivation: molecular mechanisms from the human perspective
Human Genetics
Christine Yang, Andrew G. Chapman, Angela D. Kelsey, Jakub Minks, Allison M. Cotton, Carolyn J. Brown
DOI: 10.1007/s00439-011-0994-9
05/2011

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
Human Genetics
Allison M. Cotton, Lucia Lam, Joslynn G. Affleck, Ian M. Wilson, Maria S. Peñaherrera, Deborah E. McFadden, Michael S. Kobor, Wan L. Lam, Wendy P. Robinson, Carolyn J. Brown
DOI: 10.1007/s00439-011-1007-8
05/2011

Inactive X chromosome-specific reduction in placental DNA methylation
Human Molecular Genetics
Allison M. Cotton, Luana Avila, Maria S. Penaherrera, Joslynn G. Affleck, Wendy P. Robinson, Carolyn J. Brown
DOI: 10.1093/hmg/ddp299
07/2009

X chromosome inactivation: heterogeneity of heterochromatin
Biochemistry and Cell Biology
Sharan K. Sidhu, Jakub Minks, Samuel C. Chang, Allison M. Cotton, Carolyn J. Brown
DOI: 10.1139/o08-100
10/2008

Research
Grants

National Ataxia Foundation Research Seed Money Grant, Co-investigator

GenomeBC, GBC-Genomics England Rare Disease partnership, Co-investigator

Honours & Awards

Child & Family Research Institute Postdoctoral Fellowship

University of Guelph President’s Scholarship

Interdisciplinary Women’s Research Scholarship