William T Gibson

William T Gibson

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William T Gibson

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

Am J Med Genet C Semin Med Genet 2019 12 14;181(4):519-531. Epub 2019 Nov 14.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.c.31754DOI Listing
December 2019

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.

Pediatr Rheumatol Online J 2019 Oct 28;17(1):70. Epub 2019 Oct 28.

Department of Pediatrics, The University of British Columbia Faculty of Medicine, BC Children's Hospital, 4480 Oak Street, Vancouver, BC, V6H 3V4, Canada.

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http://dx.doi.org/10.1186/s12969-019-0374-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819641PMC
October 2019

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

Transl Res 2019 06 15;208:15-29. Epub 2019 Feb 15.

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada; Comprehensive Heart Failure Center and Department of Internal Medicine I, University Hospital Würzburg, Würzburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2019.02.004DOI Listing
June 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Loss of maternal EED results in postnatal overgrowth.

Clin Epigenetics 2018 07 13;10(1):95. Epub 2018 Jul 13.

Centre for Reproductive Health, Hudson Institute of Medical Research and Department of Molecular and Translational Science, Monash University, Clayton, Victoria, 3168, Australia.

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http://dx.doi.org/10.1186/s13148-018-0526-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045828PMC
July 2018

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

Orphanet J Rare Dis 2018 07 20;13(1):124. Epub 2018 Jul 20.

Center for Autonomic Medicine in Pediatrics (CAMP) in Stanley Manne Children's Research Institute and in Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1186/s13023-018-0860-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053704PMC
July 2018

Genetic ablation of Cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition.

Am J Physiol Endocrinol Metab 2018 05 24;314(5):E418-E432. Epub 2017 Oct 24.

Centre for Molecular Medicine and Therapeutics, University of British Columbia , Vancouver, British Columbia , Canada.

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http://dx.doi.org/10.1152/ajpendo.00172.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008057PMC
May 2018

The p300 and CBP Transcriptional Coactivators Are Required for β-Cell and α-Cell Proliferation.

Diabetes 2018 03 7;67(3):412-422. Epub 2017 Dec 7.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.2337/db17-0237DOI Listing
March 2018

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

Mol Syndromol 2018 Feb 25;9(2):70-82. Epub 2018 Jan 25.

School of Biomedical Sciences and Pharmacy, The University of Newcastle, Newcastle, NSW, Australia.

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http://dx.doi.org/10.1159/000484532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836217PMC
February 2018

Neuronal PAS Domain Protein 4 Suppression of Oxygen Sensing Optimizes Metabolism during Excitation of Neuroendocrine Cells.

Cell Rep 2018 01;22(1):163-174

Diabetes Research Group, BC Children's Hospital Research Institute, Vancouver, BC, Canada; Department of Surgery, University of British Columbia, Vancouver, BC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.12.033DOI Listing
January 2018

Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury.

Authors:
William T Gibson

Med Sport Sci 2016 10;61:1-14. Epub 2016 Jun 10.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, B.C., Canada.

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http://dx.doi.org/10.1159/000445237DOI Listing
November 2017

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Am J Med Genet A 2017 Mar;173(3):771-775

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38083DOI Listing
March 2017

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.

J Genet Couns 2017 02 14;26(1):21-31. Epub 2016 Oct 14.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1007/s10897-016-0029-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5258806PMC
February 2017

Ghrelin, Ghrelin O-Acyltransferase, and Carbohydrate Metabolism During Pregnancy in Calorie-Restricted Mice.

Horm Metab Res 2017 Jan 4;49(1):64-72. Epub 2016 Oct 4.

Child & Family Research Institute, Vancouver, BC, Canada.

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http://dx.doi.org/10.1055/s-0042-116117DOI Listing
January 2017

EED-associated overgrowth in a second male patient.

J Hum Genet 2016 Sep 19;61(9):831-4. Epub 2016 May 19.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/jhg.2016.51DOI Listing
September 2016

Episodic ataxia associated with a de novo SCN2A mutation.

Eur J Paediatr Neurol 2016 Sep 14;20(5):772-6. Epub 2016 Jun 14.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.05.020DOI Listing
September 2016

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000737

Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;; Department of Pediatrics, McGill University, Montreal, Quebec H4A 3J1, Canada;; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A 0C7, Canada.

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http://dx.doi.org/10.1101/mcs.a000737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853519PMC
May 2016

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Hum Mutat 2016 Mar 8;37(3):269-79. Epub 2016 Jan 8.

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/humu.22942DOI Listing
March 2016

Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice.

PLoS One 2015 1;10(5):e0125225. Epub 2015 May 1.

Department of Pediatrics, Division of Gastroenterology, BC Children's Hospital and the University of British Columbia, Vancouver, British Columbia, Canada; Child and Family Research Institute, BC Children's Hospital and the University of British Columbia, Vancouver, British Columbia, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125225PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416880PMC
February 2016

Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome.

J Genet Couns 2016 Feb 30;25(1):25-31. Epub 2015 Aug 30.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1007/s10897-015-9882-0DOI Listing
February 2016

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Respir Physiol Neurobiol 2016 Jan 10;221:59-63. Epub 2015 Nov 10.

Center for Autonomic Medicine in Pediatrics (CAMP) in Stanley Manne Children's Research Institute and in Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.resp.2015.11.002DOI Listing
January 2016

A novel mutation in EED associated with overgrowth.

J Hum Genet 2015 Jun 19;60(6):339-42. Epub 2015 Mar 19.

1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1038/jhg.2015.26DOI Listing
June 2015

Behavioral responses to a repetitive visual threat stimulus express a persistent state of defensive arousal in Drosophila.

Curr Biol 2015 Jun 14;25(11):1401-15. Epub 2015 May 14.

Howard Hughes Medical Institute, California Institute of Technology, Pasadena, CA 91125, USA; Division of Biology & Biological Engineering 156-29, California Institute of Technology, Pasadena, CA 91125, USA; Janelia Farm Research Campus, Howard Hughes Medical Institute, 19700 Helix Drive, Ashburn, VA 20147, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2015.03.058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4452410PMC
June 2015

A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice.

J Nutr Biochem 2015 Apr 15;26(4):319-26. Epub 2014 Dec 15.

Department of Biology, IKBSAS, University of British Columbia-Okanagan, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09552863140024
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http://dx.doi.org/10.1016/j.jnutbio.2014.11.004DOI Listing
April 2015

Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice.

Peptides 2015 Mar 30;65:29-33. Epub 2015 Jan 30.

Child & Family Research Institute, Vancouver, BC, Canada V5Z 4H4; University of British Columbia, Vancouver, BC, Canada V6T 1Z4; BC Children's Hospital, Vancouver, BC, Canada V6H 3V4.

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http://dx.doi.org/10.1016/j.peptides.2015.01.005DOI Listing
March 2015

Genetic counseling in direct-to-consumer exome sequencing: a case report.

J Genet Couns 2014 Oct 24;23(5):742-53. Epub 2014 Jun 24.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada,

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http://dx.doi.org/10.1007/s10897-014-9737-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156788PMC
October 2014

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Am J Med Genet A 2014 Sep 5;164A(9):2360-4. Epub 2014 Jun 5.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36622DOI Listing
September 2014

Duplication of AKT3 is associated with macrocephaly and speech delay.

Am J Med Genet A 2014 Jul 3;164A(7):1868-9. Epub 2014 Apr 3.

Child and Family Research Institute, Laboratory for Obesity Genetics and Indirect Calorimetry, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada; Department of Medical Genetics, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36521DOI Listing
July 2014

Individual-based chaos: extensions of the discrete logistic model.

J Theor Biol 2013 Dec 11;339:84-92. Epub 2013 Sep 11.

California Institute of Technology, USA.

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http://dx.doi.org/10.1016/j.jtbi.2013.09.001DOI Listing
December 2013

Acute disruption of leptin signaling in vivo leads to increased insulin levels and insulin resistance.

Endocrinology 2011 Sep 12;152(9):3385-95. Epub 2011 Jul 12.

Department of Cellular and Physiological Sciences, Life Sciences Institute, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z3.

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http://dx.doi.org/10.1210/en.2011-0185DOI Listing
September 2011

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.

Neuromuscul Disord 2011 Mar 4;21(3):178-82. Epub 2010 Dec 4.

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.nmd.2010.11.008DOI Listing
March 2011

Ldlr-/- mice display decreased susceptibility to Western-type diet-induced obesity due to increased thermogenesis.

Endocrinology 2010 Nov 29;151(11):5226-36. Epub 2010 Sep 29.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1210/en.2010-0496DOI Listing
November 2010

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.

Am J Med Genet A 2010 Nov;152A(11):2784-90

Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33172DOI Listing
November 2010

Cell topology, geometry, and morphogenesis in proliferating epithelia.

Curr Top Dev Biol 2009 ;89:87-114

Program in Biophysics, Harvard University, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1016/S0070-2153(09)89004-2DOI Listing
January 2010

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone.

Peptides 2010 Jan 31;31(1):123-9. Epub 2009 Oct 31.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Canada.

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http://dx.doi.org/10.1016/j.peptides.2009.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096855PMC
January 2010

Key concepts in human genetics: understanding the complex phenotype.

Authors:
William T Gibson

Med Sport Sci 2009 17;54:1-10. Epub 2009 Aug 17.

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http://dx.doi.org/10.1159/000235693DOI Listing
December 2009

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

Am J Med Genet A 2009 Jul;149A(7):1482-6

Department of Pediatric Neurology, British Columbia's Children's Hospital, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32851DOI Listing
July 2009

Modeling and inferring cleavage patterns in proliferating epithelia.

PLoS Comput Biol 2009 Jun 12;5(6):e1000412. Epub 2009 Jun 12.

School of Engineering and Applied Science, Harvard University, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1371/journal.pcbi.1000412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2688032PMC
June 2009

Genetic association studies for complex traits: relevance for the sports medicine practitioner.

Authors:
William T Gibson

Br J Sports Med 2009 May 9;43(5):314-6. Epub 2008 Dec 9.

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http://dx.doi.org/10.1136/bjsm.2008.052191DOI Listing
May 2009

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

Am J Med Genet A 2008 May;146A(10):1299-306

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.32277
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http://dx.doi.org/10.1002/ajmg.a.32277DOI Listing
May 2008

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

J Lipid Res 2008 Jan 24;49(1):217-29. Epub 2007 Oct 24.

Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1194/jlr.M700478-JLR200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017869PMC
January 2008

Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3.

Am J Med Genet A 2008 Jan;146A(2):225-32

Department of Medical Genetics, Child and Family Research Institute, UBC, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32056DOI Listing
January 2008

Body weight is modulated by levels of full-length huntingtin.

Hum Mol Genet 2006 May 28;15(9):1513-23. Epub 2006 Mar 28.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V6T 1Z3.

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http://academic.oup.com/hmg/article/15/9/1513/628132/Body-we
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http://dx.doi.org/10.1093/hmg/ddl072DOI Listing
May 2006

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.

J Clin Endocrinol Metab 2004 Oct;89(10):4821-6

University Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, United Kingdom CB2 2XY.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2004-0376DOI Listing
October 2004

Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.

Can J Physiol Pharmacol 2004 Jun;82(6):426-9

Department of Clinical Biochemistry and Cambridge Institute for Medical Research, Addenbrooke's Hospital, UK.

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http://dx.doi.org/10.1139/y04-025DOI Listing
June 2004

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.

Obes Res 2004 May;12(5):743-9

University Department of Clinical Biochemistry, Cambridge Institute of medical Research, Cambridge United Kingdom.

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http://dx.doi.org/10.1038/oby.2004.89DOI Listing
May 2004

Searching for the 'natural': the case for the gene 'for' homosexuality.

Hum Reprod Genet Ethics 2003 ;9(2):30-5

St. John's College, Cambridge CB2 1TP, England.

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http://dx.doi.org/10.1179/hrge.9.2.f5v4g064q839r88wDOI Listing
April 2004