- Overview
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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
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Who’s afraid of the X? Incorporating the X and Y chromosomes into the analysis of DNA methylation array data
Epigenetics and Chromatin
Inkster, A.M. and Wong, M.T. and Matthews, A.M. and Brown, C.J. and Robinson, W.P.
DOI: 10.1186/s13072-022-00477-0
2023Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.
DOI: 10.1016/j.xhgg.2022.100108
2022Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease
medRxiv
Sharma, M. and Lu, H.Y. and Vaseghi-Shanjani, M. and Del Bel, K.L. and Fornes, O. and van der Lee, R. and Richmond, P.A. and Lin, S. and Dalmann, J. and Lee, J.J. and Matthews, A. and Blanchard-Rohner, G. and van Karnebeek, C.D.M. and Bedford, H.M. and Wasserman, W.W. and Seear, M. and McKinnon, M.L. and Ahmed, H. and Turvey, S.E.
DOI: 10.1101/2022.04.25.22274265
2022Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
DOI: 10.1007/s10048-021-00652-7
PubMed: 34213677
07/2021A cross-cohort analysis of autosomal DNA methylation sex differences in the term placenta.
Biology of sex differences
Amy Inkster and Yuan V and Konwar C and Matthews AM and Brown CJ and Wendy Robinson
DOI: 10.1186/s13293-021-00381-4
PubMed: 34044884
05/2021A cross-cohort analysis of autosomal DNA methylation sex differences in the term placenta
Amy M. Inkster and Victor Yuan and Chaini Konwar and Allison M. Matthews and Carolyn J. Brown and Wendy P. Robinson
DOI: 10.1101/2021.03.08.434471
03/2021Is the diagnostic rate for the common subtypes of A1AT deficiency consistent across two Canadian Provinces?
Clinical Biochemistry
Estey, M.P. and Tahooni, T. and Nelson, T.N. and Parker, M.L. and Agbor, T.A. and Yang, H.-M. and Jen, R. and Barakauskas, V.E. and Lam, G.Y. and Matthews, A. and Mattman, A.
DOI: 10.1016/j.clinbiochem.2021.05.002
2021Atypical cerebral palsy: genomics analysis enables precision medicine
Genetics in Medicine
Matthews, A.M. and Blydt-Hansen, I. and Al-Jabri, B. and Andersen, J. and Tarailo-Graovac, M. and Price, M. and Selby, K. and Demos, M. and Connolly, M. and Drögemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and Stöckler, S. and Salvarinova, R. and Vallance, H. and Sinclair, G. and Ross, C.J. and Wasserman, W.W. and McKinnon, M.L. and Horvath, G.A. and Goez, H. and van Karnebeek, C.D.
DOI: 10.1038/s41436-018-0376-y
2019Bone health and SATB2-associated syndrome
Clinical Genetics
Zarate, Y.A. and Steinraths, M. and Matthews, A. and Smith, W.E. and Sun, A. and Wilson, L.C. and Brain, C. and Allgove, J. and Jacobs, B. and Fish, J.L. and Powell, C.M. and Wasserman, W.W. and van Karnebeek, C.D. and Wakeling, E.L. and Ma, N.S.
DOI: 10.1111/cge.13121
2018Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Journal of Inherited Metabolic Disease
Graham, E. and Lee, J. and Price, M. and Tarailo-Graovac, M. and Matthews, A. and Engelke, U. and Tang, J. and Kluijtmans, L.A.J. and Wevers, R.A. and Wasserman, W.W. and van Karnebeek, C.D.M. and Mostafavi, S.
DOI: 10.1007/s10545-018-0139-6
2018A 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
Matthews, A.M. and Tarailo-Graovac, M. and Price, E.M. and Blydt-Hansen, I. and Ghani, A. and Drögemöller, B.I. and Robinson, W.P. and Ross, C.J. and Wasserman, W.W. and Siden, H. and van Karnebeek, C.D.
DOI: 10.1016/j.ejmg.2017.07.015
2017Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
Genetics in medicine : official journal of the American College of Medical Genetics
Tarailo-Graovac, M. and Zhu, J.Y.A. and Matthews, A. and van Karnebeek, C.D.M. and Wasserman, W.W.
DOI: 10.1038/gim.2017.50
2017Novel 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
Vieira, P. and Cameron, J. and Rahikkala, E. and Keski-Filppula, R. and Zhang, L.-H. and Santra, S. and Matthews, A. and Myllynen, P. and Nuutinen, M. and Moilanen, J.S. and Rodenburg, R.J. and Rolfs, A. and Uusimaa, J. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ymgme.2017.02.003
2017Optic 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
10/2016Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Molecular Genetics and Metabolism
Horvath, G.A. and Demos, M. and Shyr, C. and Matthews, A. and Zhang, L. and Race, S. and Stockler-Ipsiroglu, S. and Van Allen, M.I. and Mancarci, O. and Toker, L. and Pavlidis, P. and Ross, C.J. and Wasserman, W.W. and Trump, N. and Heales, S. and Pope, S. and Helen Cross, J. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ymgme.2015.11.008
2016YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses
Scientific Reports
Chen, C.-Y. and Shi, W. and Balaton, B.P. and Matthews, A.M. and Li, Y. and Arenillas, D.J. and Mathelier, A. and Itoh, M. and Kawaji, H. and Lassmann, T. and Hayashizaki, Y. and Carninci, P. and Forrest, A.R.R. and Brown, C.J. and Wasserman, W.W.
DOI: 10.1038/srep37324
2016Derivation of consensus inactivation status for X-linked genes from genome-wide studies
Biology of Sex Differences
Bradley P. Balaton and Allison M. Cotton and Carolyn J. Brown
DOI: 10.1186/s13293-015-0053-7
2015Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
Human Molecular Genetics
Allison M. Cotton and E. Magda Price and Meaghan J. Jones and Bradley P. Balaton and Michael S. Kobor and Carolyn J. Brown
DOI: 10.1093/hmg/ddu564
11/2014Differentially methylated CpG island within human XIST mediates alternative P2 transcription and YY1 binding
BMC Genetics
Andrew G Chapman and Allison M Cotton and Angela D Kelsey and Carolyn J Brown
DOI: 10.1186/s12863-014-0089-4
09/2014Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expression
BioEssays
Samantha B. Peeters and Allison M. Cotton and Carolyn J. Brown
DOI: 10.1002/bies.201400032
06/2014DNA 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 and Raj Chari and Kelsie L. Thu and Ian M. Wilson and Allison M. Cotton and Jennifer Y. Kennett and May Zhang and Kim M. Lonergan and Katrina Steiling and Carolyn J. Brown and Annette McWilliams and Keishi Ohtani and Marc E. Lenburg and Don D. Sin and Avrum Spira and Calum E. MacAulay and Stephen Lam and Wan L. Lam
DOI: 10.1165/rcmb.2013-0304oc
05/2014Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains
Human Molecular Genetics
Allison M. Cotton and Chih-Yu Chen and Lucia L. Lam and Wyeth W. Wasserman and Michael S. Kobor and Carolyn J. Brown
DOI: 10.1093/hmg/ddt513
10/2013Translating dosage compensation to trisomy 21
Nature
Jun Jiang and Yuanchun Jing and Gregory J. Cost and Jen-Chieh Chiang and Heather J. Kolpa and Allison M. Cotton and Dawn M. Carone and Benjamin R. Carone and David A. Shivak and Dmitry Y. Guschin and Jocelynn R. Pearl and Edward J. Rebar and Meg Byron and Philip D. Gregory and Carolyn J. Brown and Fyodor D. Urnov and Lisa L. Hall and Jeanne B. Lawrence
DOI: 10.1038/nature12394
07/2013X-Chromosome Inactivation
Epigenetics and Complex Traits
Wendy P. Robinson and Allison M. Cotton and Maria S. Pe{\~{n}}aherrera and Samantha B. Peeters and Carolyn J. Brown
DOI: 10.1007/978-1-4614-8078-5_3
2013Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array
Epigenetics & Chromatin
Magda E Price and Allison M Cotton and Lucia L Lam and Pau Farré and Eldon Emberly and Carolyn J Brown and Wendy P Robinson and Michael S Kobor
DOI: 10.1186/1756-8935-6-4
2013XIST-induced silencing of flanking genes is achieved by additive action of repeat a monomers in human somatic cells
Epigenetics & Chromatin
Jakub Minks and Sarah EL Baldry and Christine Yang and Allison M Cotton and Carolyn J Brown
DOI: 10.1186/1756-8935-6-23
2013Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome
Genome Biology
Allison M Cotton and Bing Ge and Nicholas Light and Veronique Adoue and Tomi Pastinen and Carolyn J Brown
DOI: 10.1186/gb-2013-14-11-r122
2013Targeting of >1.5 Mb of Human DNA into the Mouse X Chromosome Reveals Presence of cis -Acting Regulators of Epigenetic Silencing
Genetics
Christine Yang and Andrea J. McLeod and Allison M. Cotton and Charles N. de Leeuw and Stéphanie Laprise and Kathleen G. Banks and Elizabeth M. Simpson and Carolyn J. Brown
DOI: 10.1534/genetics.112.143743
09/2012Different measures of “genome-wide” DNA methylation exhibit unique properties in placental and somatic tissues
Epigenetics
E. Magda Price and Allison M. Cotton and Maria S. Peñaherrera and Deborah E. McFadden and Michael S. Kobor and Wendy Robinson
DOI: 10.4161/epi.20221
06/2012Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
Human Genetics
Allison M. Cotton and Lucia Lam and Joslynn G. Affleck and Ian M. Wilson and Maria S. Peñaherrera and Deborah E. McFadden and Michael S. Kobor and Wan L. Lam and Wendy P. Robinson and Carolyn J. Brown
DOI: 10.1007/s00439-011-1007-8
05/2011X-chromosome inactivation: molecular mechanisms from the human perspective
Human Genetics
Christine Yang and Andrew G. Chapman and Angela D. Kelsey and Jakub Minks and Allison M. Cotton and Carolyn J. Brown
DOI: 10.1007/s00439-011-0994-9
05/2011Inactive X chromosome-specific reduction in placental DNA methylation
Human Molecular Genetics
Allison M. Cotton and Luana Avila and Maria S. Penaherrera and Joslynn G. Affleck and Wendy P. Robinson and Carolyn J. Brown
DOI: 10.1093/hmg/ddp299
07/2009X chromosome inactivation: heterogeneity of heterochromatin
Biochemistry and Cell Biology
Sharan K. Sidhu and Jakub Minks and Samuel C. Chang and Allison M. Cotton and Carolyn J. Brown
DOI: 10.1139/o08-100
10/2008 - Research
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Grants
National Ataxia Foundation Research Seed Money Grant, Co-investigator
GenomeBC, GBC-Genomics England Rare Disease partnership, Co-investigator
Honours & AwardsChild & Family Research Institute Postdoctoral Fellowship
University of Guelph President’s Scholarship
Interdisciplinary Women’s Research Scholarship
Understanding atypical cerebral palsy: new research shows genetic sequencing can find answers and improve care
In a new study Dr. Allison Matthews demonstrates that state-of-the-art genetic sequencing can provide answers for children with atypical cerebral palsy and, in some cases, lead to more effective treatment.
