Publications

Mutations in EZH2 cause weaver syndrome
American Journal of Human Genetics
Gibson, W.T. and Hood, R.L. and Zhan, S.H. and Bulman, D.E. and Fejes, A.P. and Moore, R. and Mungall, A.J. and Eydoux, P. and Babul-Hirji, R. and An, J. and Marra, M.A. and Chitayat, D. and Boycott, K.M. and Weaver, D.D. and Jones, S.J.M.
DOI: 10.1016/j.ajhg.2011.11.018
2012

A novel mutation in EED associated with overgrowth
Journal of Human Genetics
Cohen, A.S.A. and Tuysuz, B. and Shen, Y. and Bhalla, S.K. and Jones, S.J.M. and Gibson, W.T.
DOI: 10.1038/jhg.2015.26
2015

EED-associated overgrowth in a second male patient
Journal of Human Genetics
Cohen, A.S.A. and Gibson, W.T.
DOI: 10.1038/jhg.2016.51
2016

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
Human Mutation
Cohen, A.S.A. and Yap, D.B. and Lewis, M.E.S. and Chijiwa, C. and Ramos-Arroyo, M.A. and Tkachenko, N. and Milano, V. and Fradin, M. and Mckinnon, M.L. and Townsend, K.N. and Xu, J. and Van Allen, M.I. and Ross, C.J.D. and Dobyns, W.B. and Weaver, D.D. and Gibson, W.T.
DOI: 10.1002/humu.22946
2016

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling
Journal of Genetic Counseling
Hitchcock, E. and Gibson, W.T.
DOI: 10.1007/s10897-016-0029-8
2017

A systematic review of genetic syndromes with obesity
Obesity Reviews
Kaur, Y. and de Souza, R.J. and Gibson, W.T. and Meyre, D.
DOI: 10.1111/obr.12531
2017

A maternal high-fat, high-sucrose diet has sex-specific effects on fetal glucocorticoids with little consequence for offspring metabolism and voluntary locomotor activity in mice
PLoS ONE
Chin, E.H. and Schmidt, K.L. and Martel, K.M. and Wong, C.K. and Hamden, J.E. and Gibson, W.T. and Soma, K.K. and Christians, J.K.
DOI: 10.1371/journal.pone.0174030
2017

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex
American Journal of Medical Genetics, Part A
Farach, L.S. and Gibson, W.T. and Sparagana, S.P. and Nellist, M. and Stumpel, C.T.R.M. and Hietala, M. and Friedman, E. and Pearson, D.A. and Creighton, S.P. and Wagemans, A. and Segel, R. and Ben-Shalom, E. and Au, K.S. and Northrup, H.
DOI: 10.1002/ajmg.a.38083
2017

Absence of mutations in HCRT , HCRTR1 and HCRTR2 in patients with ROHHAD
Respiratory Physiology & Neurobiology
Sarah F. Barclay, Casey M. Rand, Paul A. Gray, William T. Gibson, Richard J.A. Wilson, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, N. Torben Bech-Hansen, Debra E. Weese-Mayer
DOI: 10.1016/j.resp.2015.11.002
01/2016

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
Human Mutation
Brodehl, A. and Ferrier, R.A. and Hamilton, S.J. and Greenway, S.C. and Brundler, M.-A. and Yu, W. and Gibson, W.T. and Mckinnon, M.L. and Mcgillivray, B. and Alvarez, N. and Giuffre, M. and Schwartzentruber, J. and Gerull, B. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1002/humu.22942
2016

Ghrelin, Ghrelin O-Acyltransferase, and Carbohydrate Metabolism During Pregnancy in Calorie-Restricted Mice
Hormone and Metabolic Research
Trivedi, A. and Babic, S. and Heiman, M. and Gibson, W.T. and Chanoine, J.-P.
DOI: 10.1055/s-0042-116117
2016

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels
Clinical Genetics
Hitchcock, E. and Patankar, J.V. and Tyson, C. and Hrynchak, M. and Hayden, M.R. and Gibson, W.T.
DOI: 10.1111/cge.12633
2016

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care
Clinical Genetics
Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.
DOI: 10.1111/cge.12654
2016

Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury
Medicine and Sport Science
Gibson, W.T.
DOI: 10.1159/000445237
2016

Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice
Peptides
DOI: 10.1016/j.peptides.2015.01.005
03/2015

NSD1 mutations generate a genome-wide DNA methylation signature
Nature Communications
Choufani, S. and Cytrynbaum, C. and Chung, B.H.Y. and Turinsky, A.L. and Grafodatskaya, D. and Chen, Y.A. and Cohen, A.S.A. and Dupuis, L. and Butcher, D.T. and Siu, M.T. and Luk, H.M. and Lo, I.F.M. and Lam, S.T.S. and Caluseriu, O. and Stavropoulos, D.J. and Reardon, W. and Mendoza-Londono, R. and Brudno, M. and Gibson, W.T. and Chitayat, D. and Weksberg, R.
DOI: 10.1038/ncomms10207
2015

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Exome sequencing of trios, monozygotic twins and tumours
Orphanet Journal of Rare Diseases
Barclay, S.F. and Rand, C.M. and Borch, L.A. and Nguyen, L. and Gray, P.A. and Gibson, W.T. and Wilson, R.J.A. and Gordon, P.M.K. and Aung, Z. and Berry-Kravis, E.M. and Ize-Ludlow, D. and Weese-Mayer, D.E. and Bech-Hansen, N.T.
DOI: 10.1186/s13023-015-0314-x
2015

Episodic ataxia associated with a de novo SCN2A mutation
European Journal of Paediatric Neurology
Leach, E.L. and van Karnebeek, C.D.M. and Townsend, K.N. and Tarailo-Graovac, M. and Hukin, J. and Gibson, W.T.
DOI: 10.1016/j.ejpn.2016.05.020
2015

A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice
Journal of Nutritional Biochemistry
Wong, C.K. and Botta, A. and Pither, J. and Dai, C. and Gibson, W.T. and Ghosh, S.
DOI: 10.1016/j.jnutbio.2014.11.004
2015

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: An unusual clinical picture
Journal of Pediatric Endocrinology and Metabolism
Harel, S. and Cohen, A.S.A. and Hussain, K. and Flanagan, S.E. and Schlade-Bartusiak, K. and Patel, M. and Courtade, J. and Li, J.B.W. and Van Karnebeek, C. and Kurata, H. and Ellard, S. and Chanoine, J.-P. and Gibson, W.T.
DOI: 10.1515/jpem-2014-0265
2015

Leptin and adiponectin: Examining their clinical significance in obesity
University of Toronto Medical Journal
Tan, J. and Gibson, W.T.
2015

Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice
PLoS ONE
Wu, X. and Conlin, V.S. and Morampudi, V. and Ryz, N.R. and Nasser, Y. and Bhinder, G. and Bergstrom, K.S. and Yu, H.B. and Waterhouse, C.C.M. and Buchan, A.M.J. and Popescu, O.E. and Gibson, W.T. and Waschek, J.A. and Vallance, B.A. and Jacobson, K.
DOI: 10.1371/journal.pone.0125225
2015

Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations
Clinical Genetics
Gibson, W.T.
DOI: 10.1111/cge.12483
2015

Duplication of AKT3 is associated with macrocephaly and speech delay
American Journal of Medical Genetics, Part A
Chung, B.K. and Eydoux, P. and Van Karnebeek, C.D. and Gibson, W.T.
DOI: 10.1002/ajmg.a.36521
2014

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
Clinical Genetics
Filges, I., Nosova, E., Bruder, E., Tercanli, S., Townsend, K., Gibson, W.T., Röthlisberger, B., Heinimann, K., Hall, J.G., Gregory-Evans, C.Y., Wasserman, W.W., Miny, P., Friedman, J.M.
DOI: 10.1111/cge.12301
2014

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis
American Journal of Medical Genetics, Part A
Cohen, A.S.A. and Townsend, K.N. and Xiang, Q.-S. and Attariwala, R. and Borchers, C. and Senger, C. and Picker, W. and Levi, J. and Yewchuk, L. and Tan, J. and Eydoux, P. and Lum, A. and Yong, S.-L. and Mckinnon, M.L. and Lear, S.A. and Everett, R. and Jones, S.J.M. and Yip, S. and Gibson, W.T.
DOI: 10.1002/ajmg.a.36622
2014

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome
European Journal of Medical Genetics
Dyment, D.A. and Gibson, W.T. and Huang, L. and Bassyouni, H. and Hegele, R.A. and Innes, A.M.
DOI: 10.1016/j.ejmg.2014.06.006
2014

Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report
Journal of Genetic Counseling
van den Berg, S. and Shen, Y. and Jones, S.J.M. and Gibson, W.T.
DOI: 10.1007/s10897-014-9737-0
2014

Autosomal dominant PIK3R1 mutations cause SHORT syndrome
Clinical Genetics
Chung, B.K. and Gibson, W.T.
DOI: 10.1111/cge.12262
2014

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
Journal of Medical Genetics
Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C.A., Sanchez-Carpintero, R., Goizet, C., Naidu, S., Vanderver, A., Bernard, G.
DOI: 10.1136/jmedgenet-2012-101357
2013

The c.7409G>A (p.Cys2470Tyr) variant of FBN1: Phenotypic variability across three generations
Molecular Syndromology
Potter, K.J. and Creighton, S. and Armstrong, L. and Eydoux, P. and Duncan, W. and Penny, D.J. and Fan, Y. and Gibson, W.T.
DOI: 10.1159/000347163
2013

Mutations in EZH2 Cause Weaver Syndrome.
12/2011

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4
Neuromuscular Disorders
Baskin, B. and Gibson, W.T. and Ray, P.N.
DOI: 10.1016/j.nmd.2010.11.008
2011

Acute disruption of leptin signaling in vivo leads to increased insulin levels and insulin resistance
Endocrinology
Levi, J. and Gray, S.L. and Speck, M. and Huynh, F.K. and Babich, S.L. and Gibson, W.T. and Kieffer, T.J.
DOI: 10.1210/en.2011-0185
2011

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
Peptides
Glier, M.B. and Pissios, P. and Babich, S.L. and Macdonald, M.L.E. and Hayden, M.R. and Maratos-Flier, E. and Gibson, W.T.
DOI: 10.1016/j.peptides.2009.10.018
2010

Ldlr-/- mice display decreased susceptibility to western-type diet-induced obesity due to increased thermogenesis
Endocrinology
Ngai, Y.F. and Quong, W.L. and Glier, M.B. and Glavas, M.M. and Babich, S.L. and Innis, S.M. and Kieffer, T.J. and Gibson, W.T.
DOI: 10.1210/en.2010-0496
2010

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons
American Journal of Medical Genetics, Part A
Ngai, Y.F. and Chijiwa, C. and Mercimek-Mahmutoglu, S. and Stewart, L. and Yong, S.-L. and Robinson, W.P. and Gibson, W.T.
DOI: 10.1002/ajmg.a.33172
2010

Effects of glucose and insulin on acyl ghrelin and desacyl ghrelin, leptin, and adiponectin in pregnant women with diabetes
Metabolism: Clinical and Experimental
Gibson, W. and Liu, J. and Gaylinn, B. and Thorner, M.O. and Meneilly, G.S. and Babich, S.L. and Thompson, D. and Chanoine, J.-P.
DOI: 10.1016/j.metabol.2009.09.033
2010

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
Friedman, J.M. and Adam, S. and Arbour, L. and Armstrong, L. and Baross, A. and Birch, P. and Boerkoel, C. and Chan, S. and Chai, D. and Delaney, A.D. and Flibotte, S. and Gibson, W.T. and Langlois, S. and Lemyre, E. and Li, H.I. and MacLeod, P. and Mathers, J. and Michaud, J.L. and McGillivray, B.C. and Patel, M.S. and Qian, H. and Rouleau, G.A. and Van Allen, M.I. and Yong, S. and Zahir, F.R. and Eydoux, P. and Marra, M.A.
DOI: 10.1186/1471-2164-10-526
2009

Genetic association studies for complex traits: Relevance for the sports medicine practitioner
British Journal of Sports Medicine
Gibson, W.T.
DOI: 10.1136/bjsm.2008.052191
2009

Key concepts in human genetics: Understanding the complex phenotype
Medicine and Sport Science
Gibson, W.T.
DOI: 10.1159/000235693
2009

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
American Journal of Medical Genetics, Part A
Demos, M.K. and Fullston, T. and Partington, M.W. and Gécz, J. and Gibson, W.T.
DOI: 10.1002/ajmg.a.32851
2009

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice
Journal of Lipid Research
MacDonald, M.L.E. and Singaraja, R.R. and Bissada, N. and Ruddle, P. and Watts, R. and Karasinska, J.M. and Gibson, W.T. and Fievet, C. and Vance, J.E. and Staels, B. and Hayden, M.R.
DOI: 10.1194/jlr.M700478-JLR200
2008

Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
American Journal of Medical Genetics, Part A
Lehman, A.M. and McFadden, D. and Pugash, D. and Sangha, K. and Gibson, W.T. and Patel, M.S.
DOI: 10.1002/ajmg.a.32277
2008

Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
American Journal of Medical Genetics, Part A
Gibson, W.T. and Harvard, C. and Qiao, Y. and Somerville, M.J. and Lewis, M.E.S. and Rajcan-Separovic, E.
DOI: 10.1002/ajmg.a.32056
2008

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Journal of Medical Genetics
Zahir, F. and Firth, H.V. and Baross, A. and Delaney, A.D. and Eydoux, P. and Gibson, W.T. and Langlois, S. and Martin, H. and Willatt, L. and Marra, M.A. and Friedman, J.M.
DOI: 10.1136/jmg.2007.050823
2007

Mycophenolate mofetil and atherosclerosis: Results of animal and human studies
Annals of the New York Academy of Sciences
Gibson, W.T. and Hayden, M.R.
DOI: 10.1196/annals.1423.023
2007

Mycophenolate mofetil and animal models
Lupus
Gibson, W.T. and Hayden, M.R.
DOI: 10.1177/0961203306071675
2006

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
American Journal of Human Genetics
Friedman, J.M. and Baross, Á. and Delaney, A.D. and Ally, A. and Arbour, L. and Asano, J. and Bailey, D.K. and Barber, S. and Birch, P. and Brown-John, M. and Cao, M. and Chan, S. and Charest, D.L. and Farnoud, N. and Fernandes, N. and Flibotte, S. and Go, A. and Gibson, W.T. and Holt, R.A. and Jones, S.J.M. and Kennedy, G.C. and Krzywinski, M. and Langlois, S. and Li, H.I. and McGillivray, B.C. and Nayar, T. and Pugh, T.J. and Rajcan-Separovic, E. and Schein, J.E. and Schnerch, A. and Siddiqui, A. and Van Allen, M.I. and Wilson, G. and Yong, S.-L. and Zahir, F. and Eydoux, P. and Marra, M.A.
DOI: 10.1086/507471
2006

The beat goes on: ciliary proteins are defective in Meckel syndrome.
Clinical genetics
Gibson, W.T.
DOI: 10.1111/j.1399-0004.2006.00595b.x
2006

Body weight is modulated by levels of full-length Huntingtin
Human Molecular Genetics
Van Raamsdonk, J.M. and Gibson, W.T. and Pearson, J. and Murphy, Z. and Lu, G. and Leavitt, B.R. and Hayden, M.R.
DOI: 10.1093/hmg/ddl072
2006

A new Marfan-like syndrome caused by pertubed transforming growth factor-ß signaling
Clinical Genetics
Gibson, W.T.
DOI: 10.1111/j.1399-0004.2005.0507c.x
2005

Another four bite the dust: mutations in a ubiquitously expressed filamin protein cause several skeletal dysplasiasHotSpots
Clinical Genetics
William T Gibson
DOI: 10.1111/j.1399-0004.2004.00295c.x
06/2004

So many asthma loci, so little timeHotSpots
Clinical Genetics
Paul C Orban, William T Gibson
DOI: 10.1111/j.1399-0004.2004.00295a.x
06/2004

Melanin-concentrating hormone receptor mutations and human obesity: Functional analysis
Obesity Research
Gibson, W.T., Pissios, P., Trombly, D.J., Luan, J., Keogh, J., Wareham, N.J., Maratos-Flier, E., O'Rahilly, S., Farooqi, I.S.
2004

Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity
Canadian Journal of Physiology and Pharmacology
Gibson, W.T. and Ebersole, B.J. and Bhattacharyya, S. and Clayton, P. and Farooqi, I.S. and Sealfon, S.C. and O\'Rahilly, S.
DOI: 10.1139/y04-025
2004

Melanin-concentrating hormone receptor mutations and human obesity: Functional analysis
Obesity Research
Gibson, W.T. and Pissios, P. and Trombly, D.J. and Luan, J. and Keogh, J. and Wareham, N.J. and Maratos-Flier, E. and O\'Rahilly, S. and Farooqi, I.S.
2004

Congenital leptin deficiency due to homozygosity for the ¿133G mutation: Report of another case and evaluation of response to four years of leptin therapy
Journal of Clinical Endocrinology and Metabolism
Gibson, W.T. and Farooqi, I.S. and Moreau, M. and DePaoli, A.M. and Lawrence, E. and O\'Rahilly, S. and Trussell, R.A.
DOI: 10.1210/jc.2004-0376
2004

Searching for the 'natural': the case for the gene 'for' homosexuality.
Human reproduction and genetic ethics
Gibson, W.T. and Dormor, D.J.
2003

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: A novel neonatal phenotype dimilar to peroxisomal biogenesis disorders.
American Journal of Human Genetics
PubMed: 11992258
04/2002

Metabolism: Partial leptin deficiency and human adiposity
Nature
Farooqi, I.S. and Keogh, J.M. and Kamath, S. and Jones, S. and Gibson, W.T. and Trussell, R. and Jebb, S.A. and Lip, G.Y.H. and O\'rahilly, S.
DOI: 10.1038/35102112
2001

First trimester fetal heart rate: Response to chorionic villus sampling in the chromosomally normal fetus
Fetal Diagnosis and Therapy
Wilson, R.D. and Gibson, W. and Bebbington, M. and Walker, M. and Shaw, D.
1997

The immunoglobulin heavy chain and disease association: Application to pemphigus vulgaris
Human Genetics
Gibson, W.T. and Walter, M.A. and Ahmed, A.R. and Alper, C.A. and Cox, D.W.
1994

The immunoglobulin heavy chain and disease association: application to pemphigus vulgaris
Human Genetics
Gibson, W.T. and Walter, M.A. and Ahmed, A.R. and Alper, C.A. and Cox, D.W.
DOI: 10.1007/BF00206963
1994

Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region
Journal of Clinical Investigation
Walter, M.A. and Gibson, W.T. and Ebers, G.C. and Cox, D.W.
1991

Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region
Journal of Clinical Investigation
Walter, M.A. and Gibson, W.T. and Ebers, G.C. and Cox, D.W.
1991

Research

Current Projects
Our major interest is in rare mutations that predispose to common diseases, whether their effects are on aneurysm risk, food intake, energy expenditure or body growth (like the Weaver syndrome gene EZH2 and the Cohen-Gibson syndrome gene EED).

By studying rare human genetic disorders like Weaver syndrome, Cohen-Gibson syndrome, paired with data from animal models of obesity and leanness, we hope to derive valuable lessons that are relevant to common disease risk in the general population.

In addition to our recruitment of patients with rare overgrowth syndromes, we are also recruiting affected and unaffected members of families with Familial Brain Aneurysms.

Grants

CIHR Project Grant "Insights from rare overgrowth syndromes for common diseases"

CIHR Project Grant "Regulation of islet cell proliferation by p300"

Heart and Stroke Foundation of Canada Grant-in-Aid "Next-Generation Sequencing for Rare, Highly-Penetrant Mutations in Familial Intracranial Aneurysms"

Honours & Awards

CIHR Clinician Scientist Phase 2 – 2007-2014

Promoted to UBC Associate Professor – 2013

NSERC Discovery Grant – 2011-2016

Research Group Members

Chi Kin Wong
Veronica Chow
Kristine Louie
Sharri Cyrus, Trainee
Michael Vermeulen
Daniel Gamu