Publications

Mutations in EZH2 cause weaver syndrome
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.11.018
2012

A novel mutation in EED associated with overgrowth
Journal of Human Genetics
DOI: 10.1038/jhg.2015.26
2015

EED-associated overgrowth in a second male patient
Journal of Human Genetics
DOI: 10.1038/jhg.2016.51
2016

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
Human Mutation
DOI: 10.1002/humu.22946
2016

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling
Journal of Genetic Counseling
DOI: 10.1007/s10897-016-0029-8
2017

A systematic review of genetic syndromes with obesity
Obesity Reviews
DOI: 10.1111/obr.12531
2017

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
Journal of Human Genetics
01/2019

Severe obesity and global developmental delay in preschool children
11/2018

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.38083
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
DOI: 10.1371/journal.pone.0174030
2017

Absence of mutations in HCRT , HCRTR1 and HCRTR2 in patients with ROHHAD
Respiratory Physiology & Neurobiology
Sarah F. Barclay and Casey M. Rand and Paul A. Gray and William T. Gibson and Richard J.A. Wilson and Elizabeth M. Berry-Kravis and Diego Ize-Ludlow and N. Torben Bech-Hansen and 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
DOI: 10.1002/humu.22942
2016

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

Ghrelin, Ghrelin O-Acyltransferase, and Carbohydrate Metabolism During Pregnancy in Calorie-Restricted Mice
Hormone and Metabolic Research
DOI: 10.1055/s-0042-116117
2016

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels
Clinical Genetics
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
DOI: 10.1111/cge.12654
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

Leptin and adiponectin: Examining their clinical significance in obesity
University of Toronto Medical Journal
2015

Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice
PLoS ONE
DOI: 10.1371/journal.pone.0125225
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
DOI: 10.1186/s13023-015-0314-x
2015

Episodic ataxia associated with a de novo SCN2A mutation
European Journal of Paediatric Neurology
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
DOI: 10.1016/j.jnutbio.2014.11.004
2015

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

NSD1 mutations generate a genome-wide DNA methylation signature
Nature Communications
DOI: 10.1038/ncomms10207
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
DOI: 10.1515/jpem-2014-0265
2015

Autosomal dominant PIK3R1 mutations cause SHORT syndrome
Clinical Genetics
DOI: 10.1111/cge.12262
2014

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome
European Journal of Medical Genetics
DOI: 10.1016/j.ejmg.2014.06.006
2014

Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report
Journal of Genetic Counseling
DOI: 10.1007/s10897-014-9737-0
2014

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.36622
2014

Duplication of AKT3 is associated with macrocephaly and speech delay
American Journal of Medical Genetics, Part A
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
DOI: 10.1111/cge.12301
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
DOI: 10.1136/jmedgenet-2012-101357
2013

The c.7409G>A (p.Cys2470Tyr) variant of FBN1: Phenotypic variability across three generations
Molecular Syndromology
DOI: 10.1159/000347163
2013

Mutations in EZH2 Cause Weaver Syndrome.
12/2011

Acute disruption of leptin signaling in vivo leads to increased insulin levels and insulin resistance
Endocrinology
DOI: 10.1210/en.2011-0185
2011

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4
Neuromuscular Disorders
DOI: 10.1016/j.nmd.2010.11.008
2011

Effects of glucose and insulin on acyl ghrelin and desacyl ghrelin, leptin, and adiponectin in pregnant women with diabetes
Metabolism: Clinical and Experimental
DOI: 10.1016/j.metabol.2009.09.033
2010

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
Peptides
DOI: 10.1016/j.peptides.2009.10.018
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
DOI: 10.1002/ajmg.a.33172
2010

Ldlr-/- mice display decreased susceptibility to western-type diet-induced obesity due to increased thermogenesis
Endocrinology
DOI: 10.1210/en.2010-0496
2010

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.32851
2009

Key concepts in human genetics: Understanding the complex phenotype
Medicine and Sport Science
DOI: 10.1159/000235693
2009

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

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
DOI: 10.1186/1471-2164-10-526
2009

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice
Journal of Lipid Research
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
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
DOI: 10.1002/ajmg.a.32056
2008

Mycophenolate mofetil and atherosclerosis: Results of animal and human studies
Annals of the New York Academy of Sciences
DOI: 10.1196/annals.1423.023
2007

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Journal of Medical Genetics
DOI: 10.1136/jmg.2007.050823
2007

Mycophenolate mofetil and animal models
Lupus
DOI: 10.1177/0961203306071675
2006

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

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
American Journal of Human Genetics
DOI: 10.1086/507471
2006

Body weight is modulated by levels of full-length Huntingtin
Human Molecular Genetics
DOI: 10.1093/hmg/ddl072
2006

A new Marfan-like syndrome caused by pertubed transforming growth factor-ß signaling
Clinical Genetics
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 dysplasias
Clinical Genetics
William T Gibson
DOI: 10.1111/j.1399-0004.2004.00295c.x
06/2004

So many asthma loci, so little time
Clinical Genetics
Paul C Orban and 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
2004

Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity
Canadian Journal of Physiology and Pharmacology
DOI: 10.1139/y04-025
2004

Melanin-concentrating hormone receptor mutations and human obesity: Functional analysis
Obesity Research
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
DOI: 10.1210/jc.2004-0376
2004

Searching for the 'natural': the case for the gene 'for' homosexuality.
Human reproduction and genetic ethics
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
DOI: 10.1038/35102112
2001

First trimester fetal heart rate: Response to chorionic villus sampling in the chromosomally normal fetus
Fetal Diagnosis and Therapy
1997

The immunoglobulin heavy chain and disease association: application to pemphigus vulgaris
Human Genetics
DOI: 10.1007/BF00206963
1994

The immunoglobulin heavy chain and disease association: Application to pemphigus vulgaris
Human Genetics
1994

Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region
Journal of Clinical Investigation
1991

Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region
Journal of Clinical Investigation
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

Veronica Chow, Research Asst/Tech 3
Sharri Cyrus, Trainee
Daniel Gamu, Postdoctoral Research Fellow
Kristine Louie
Michael Vermeulen, Graduate Research Asst