William T. Gibson

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.

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.

EED-associated overgrowth in a second male patient

Journal of Human Genetics

Cohen, A.S.A. and Gibson, W.T.

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.

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

Journal of Genetic Counseling

Hitchcock, E. and Gibson, W.T.

A systematic review of genetic syndromes with obesity

Obesity Reviews

Kaur, Y. and de Souza, R.J. and Gibson, W.T. and Meyre, D.

Severe obesity and global developmental delay in preschool children

11 / 2018

Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services (Orphanet Journal of Rare Diseases, (2025), 20, 1, (450), 10.1186/s13023-025-03968-x)

Orphanet Journal of Rare Diseases

Wainstein, T. and Boelman, C. and Ens, C. and Gibson, W.T. and Gregory-Evans, K. and Kolawole, O.U. and Marshall, S.K. and Selby, K. and Austin, J. and Elliott, A.M.

Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study

Medrxiv

Lin, Y.-Y. and Noghabi, H.S. and Volik, S. and Bell, R. and Sar, F. and Haegert, A. and Chung, H.C. and Fazli, L. and Oo, H.Z. and Daugaard, M. and Kuo, M.-H. and Hsu, S.-C. and Imeda, E.L. and Zanettini, C. and Queiroz, L. and Schlotmann, B. and Gheybi, K. and Cooper, C. and Kote-Jarai, Z. and Eeles, R. and Kung, H.-J. and Marchionni, L. and Weischenfeldt, J. and Miller, K.D. and Rabinowitz, A. and Wang, Y. and Zhang, H.-F. and Sorensen, P.H. and Carey, M.S. and Gleave, M. and Hayes, V.M. and Gibson, W.T. and Collins, C.C.

Minimally Humanized Ezh2 Exon-18 Mouse Cell Lines Validate Preclinical CRISPR/Cas9 Approach to Treat Weaver Syndrome

Human Gene Therapy

Gibson, W.T. and Lengyell, T.C. and Korecki, A.J. and Janssen, S.M. and Adair, B.A. and Gamu, D. and Lorincz, M.C. and Simpson, E.M.

Using long-read sequencing to detect and subtype a case with Temple syndrome

Journal of Medical Genetics

Dada, S. and Akbari, V. and Hejla, D. and Shen, Y. and Dixon, K. and Choufani, S. and Weksberg, R.A. and Boerkoel, C.F. and Stewart, L. and Schlade-Bartusiak, K. and Strong, E. and Fox, D. and Gamu, D. and Gibson, W.T. and Jones, S.J.M.

NPAS4 Depletion in POMC Neurons Protects From Obesity and Alters the Feeding-regulated Transcriptome in Male Mice

Endocrinology United States

Yoon, J.S. and Gamu, D. and Gibson, W.T. and Lynn, F.C.

Functional analysis of human EED variants using Drosophila

Genetics

Cyrus, S.S. and Medina-Gir{\'o}, S. and Lian, T. and Allan, D.W. and Gibson, W.T.

Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services

Orphanet Journal of Rare Diseases

Wainstein, T. and Boelman, C. and Ens, C. and Gibson, W.T. and Gregory-Evans, K. and Kolawole, O.U. and Marshall, S.K. and Selby, K. and Zawati, M. and Wasserman, W. and Virani, A. and Pullman, D. and Lambert, D. and Friedman, J. and Dragojlovic, N. and Clarke, L. and Birch, P. and Bansback, N. and Adam, S. and Dey, A. and Lynd, L.D. and Knoppers, B. and Elliott, A.M. and Austin, J.

Maintenance of thermogenic adipose tissues despite loss of the H3K27 acetyltransferases p300 or CBP

American Journal of Physiology - Endocrinology and Metabolism

Gamu, D. and Cameron, M.S. and Gibson, W.T.

Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyse Human EED Variant Function

bioRxiv

Cyrus, S.S. and Gir, S.M. and Lian, T. and Allan, D.W. and Gibson, W.T.

NPAS4 is an allostatic regulator of POMC neuronal activity during diet-induced obesity

bioRxiv

Yoon, J.S. and Gamu, D. and Gibson, W.T. and Lynn, F.C.

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes

Journal of Medical Genetics

Akbari, V. and Dada, S. and Shen, Y. and Dixon, K. and Hejla, D. and Galbraith, A. and Choufani, S. and Weksberg, R. and Boerkoel, C.F. and Stewart, L. and Gibson, W.T. and Jones, S.J.M.

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Colijn, M.A. and Carrion, P. and Poirier-Morency, G. and Rogic, S. and Torres, I. and Menon, M. and Lisonek, M. and Cook, C. and DeGraaf, A. and Thammaiah, S.P. and Neelakant, H. and Willaeys, V. and Leonova, O. and White, R.F. and Yip, S. and Mungall, A.J. and MacLeod, P.M. and Gibson, W.T. and Sullivan, P.F. and Honer, W.G. and Pavlidis, P. and Stowe, R.M.

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

Science Advances

Lpez-Tobn, A. and Shyti, R. and Villa, C.E. and Cheroni, C. and Fuentes-Bravo, P. and Trattaro, S. and Caporale, N. and Troglio, F. and Tenderini, E. and Mihailovich, M. and Skaros, A. and Gibson, W.T. and Cuomo, A. and Bonaldi, T. and Mercurio, C. and Varasi, M. and Osborne, L. and Testa, G.

Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study

Paediatrics and Child Health Canada

Gehring, N.D. and Birken, C.S. and Belanger, S. and Bridger, T. and Chanoine, J.-P. and Gibson, W.T. and Hadjiyannakis, S. and Haines, J. and Hamilton, J. and Haqq, A.M. and Henderson, M. and Ho, J. and Irvine, B. and Legault, L. and Luca, P. and Maguire, J. and Mcpherson, A.C. and Morrison, K. and Wahi, G. and Weksberg, R. and Zwaigenbaum, L. and Ball, G.D.C.

Rare diseases of epigenetic origin: Challenges and opportunities

Frontiers in Genetics

Fu, M.P. and Merrill, S.M. and Sharma, M. and Gibson, W.T. and Turvey, S.E. and Kobor, M.S.

Activation of -catenin in mesenchymal progenitors leads to muscle mass loss

Developmental Cell

Kajabadi, N. and Low, M. and Jacques, E. and Lad, H. and Tung, L.W. and Babaeijandaghi, F. and Gamu, D. and Zelada, D. and Wong, C.K. and Chang, C. and Yi, L. and Wosczyna, M.N. and Rando, T.A. and Henrquez, J.P. and Gibson, W.T. and Gilbert, P.M. and Rossi, F.M.V.

The H3K27 acetyltransferase p300 is dispensable for thermogenic adipose tissue formation and function.

bioRxiv

Gamu, D. and Cameron, M.S. and Gibson, W.T.

Benchmarking brain organoid recapitulation of fetal corticogenesis

Cristina Cheroni and Sebastiano Trattaro and Nicol Caporale and Alejandro Lpez-Tobn and Erika Tenderini and Flavia Troglio and Michele Gabriele and Raul Bardini Bressan and Steven M Pollard and William T Gibson and Giuseppe Testa

04 / 2022

Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT

Iman Al Khatib and Jingti Deng and Symes Andrew Symes and Hongliang Zhang and Sharyin Huang and Yves Pommier and Aneal Khan and William Gibson and Timothy E Shutt

03 / 2022

Transient Polycomb activity represses developmental genes in growing oocytes

bioRxiv

Jarred, E.G. and Qu, Z. and Tsai, T. and Oberin, R. and Petautschnig, S. and Bildsoe, H. and Pederson, S. and Zhang, Q.-H. and Stringer, J.M. and Carroll, J. and Gardner, D.K. and van den Buuse, M. and Sims, N.A. and Gibson, W.T. and Adelson, D.L. and Western, P.S.

Genome-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.

Searching for Monogenic Diabetes in a High-risk Autoimmune Diabetes Cohort: Needles in a Paperclip Stack

The Journal of Clinical Endocrinology & Metabolism

Daniel Gamu and William T Gibson

07 / 2021

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Journal of Clinical Endocrinology and Metabolism

Pelletier, F. and Perrier, S. and Cayami, F.K. and Mirchi, A. and Saikali, S. and Tran, L.T. and Ulrick, N. and Guerrero, K. and Rampakakis, E. and Van Spaendonk, R.M.L. and Naidu, S. and Pohl, D. and Gibson, W.T. and Demos, M. and Goizet, C. and Tejera-Martin, I. and Potic, A. and Fogel, B.L. and Brais, B. and Sylvain, M. and Sbire, G. and Louren?o, C.M. and Bonkowsky, J.L. and Catsman-Berrevoets, C. and Pinto, P.S. and Tirupathi, S. and Str?mme, P. and De Grauw, T. and Gieruszczak-Bialek, D. and Krgeloh-Mann, I. and Mierzewska, H. and Philippi, H. and Rankin, J. and Atik, T. and Banwell, B. and Benko, W.S. and Blaschek, A. and Bley, A. and Boltshauser, E. and Bratkovic, D. and Brozova, K. and Cimas, I. and Clough, C. and Corenblum, B. and Dinopoulos, A. and Dolan, G. and Faletra, F. and Fernandez, R. and Fletcher, J. and Garcia Garcia, M.E. and Gasparini, P. and Gburek-Augustat, J. and Gonzalez Moron, D. and Hamati, A. and Harting, I. and Hertzberg, C. and Hill, A. and Hobson, G.M. and Innes, A.M. and Kauffman, M. and Kirwin, S.M. and Kluger, G. and Kolditz, P. and Kotzaeridou, U. and La Piana, R. and Liston, E. and McClintock, W. and McEntagart, M. and McKenzie, F. and Melan?on, S. and Misbahuddin, A. and Suri, M. and Monton, F.I. and Moutton, S. and Murphy, R.P.J. and Nickel, M. and Onay, H. and Orcesi, S. and zklnay, F. and Patzer, S. and Pedro, H. and Pekic, S. and Pineda Marfa, M. and Pizzino, A. and Plecko, B. and Poll-The, B.T. and Popovic, V. and Rating, D. and Rioux, M.-F. and Rodriguez Espinosa, N. and Ronan, A. and Ostergaard, J.R. and Rossignol, E. and Sanchez-Carpintero, R. and Schossig, A. and Senbil, N. and S?nderberg Roos, L.K. and Stevens, C.A. and Synofzik, M. and Sztriha, L. and Tibussek, D. and Timmann, D. and Tonduti, D. and Van De Warrenburg, B.P. and Vzquez-Lpez, M. and Venkateswaran, S. and Wasling, P. and Wassmer, E. and Webster, R.I. and Wiegand, G. and Yoon, G. and Rotteveel, J. and Schiffmann, R. and Van Der Knaap, M.S. and Vanderver, A. and Martos-Moreno, G.?. and Polychronakos, C. and Wolf, N.I. and Bernard, G.

Somatic mosaicism detected by genome-wide sequencing in 500 parent"child trios with suspected genetic disease: clinical and genetic counseling implications

Cold Spring Harbor Molecular Case Studies

Cook, C.B. and Armstrong, L. and Boerkoel, C.F. and Clarke, L.A. and du Souich, C. and Demos, M.K. and Gibson, W.T. and Gill, H. and Lopez, E. and Patel, M.S. and Selby, K. and Abu-Sharar, Z. and Elliott, A.M. and Friedman, J.M.

SETD1B -associated neurodevelopmental disorder

Journal of Medical Genetics

Roston, A. and Evans, D. and Gill, H. and McKinnon, M. and Isidor, B. and Cogn, B. and Mwenifumbo, J. and Van Karnebeek, C. and An, J. and Jones, S.J.M. and Farrer, M. and Demos, M. and Connolly, M. and Gibson, W.T.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

American Journal of Medical Genetics, Part A

Dyment, D.A. and O'Donnell-Luria, A. and Agrawal, P.B. and Coban Akdemir, Z. and Aleck, K.A. and Antaki, D. and Al Sharhan, H. and Au, P.-Y.B. and Aydin, H. and Beggs, A.H. and Bilguvar, K. and Boerwinkle, E. and Brand, H. and Brownstein, C.A. and Buyske, S. and Chodirker, B. and Choi, J. and Chudley, A.E. and Clericuzio, C.L. and Cox, G.F. and Curry, C. and de Boer, E. and de Vries, B.B.A. and Dunn, K. and Dutmer, C.M. and England, E.M. and Fahrner, J.A. and Geckinli, B.B. and Genetti, C.A. and Gezdirici, A. and Gibson, W.T. and Gleeson, J.G. and Greenberg, C.R. and Hall, A. and Hamosh, A. and Hartley, T. and Jhangiani, S.N. and Karaca, E. and Kernohan, K. and Lauzon, J.L. and Lewis, M.E.S. and Lowry, R.B. and Lpez-Girldez, F. and Matise, T.C. and McEvoy-Venneri, J. and McInnes, B. and Mhanni, A. and Garcia Minaur, S. and Moilanen, J. and Nguyen, A. and Nowaczyk, M.J.M. and Posey, J.E. and unap, K. and Pehlivan, D. and Pajusalu, S. and Penney, L.S. and Poterba, T. and Prontera, P. and Doriqui, M.J.R. and Sawyer, S.L. and Sobreira, N. and Stanley, V. and Torun, D. and Wargowski, D. and Witmer, P.D. and Wong, I. and Xing, J. and Zaki, M.S. and Zhang, Y. and Boycott, K.M. and Bamshad, M.J. and Nickerson, D.A. and Blue, E.E. and Innes, A.M.

Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein"Taybi syndromes: potential role of H3K27 modifications

Molecular Case Studies

Daniel Gamu and William T. Gibson

08 / 2020

T reg"specific insulin receptor deletion prevents diet-induced and age-associated metabolic syndrome

Journal of Experimental Medicine

Dan Wu and Chi Kin Wong and Jonathan M. Han and Paul C. Orban and Qing Huang and Jana Gillies and Majid Mojibian and William T. Gibson and Megan K. Levings

08 / 2020

ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease

William T. Gibson and Daniel M Evans and Jianghong An and Steven JM Jones

04 / 2020

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

Brain : a journal of neurology

01 / 2020

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

American Journal of Human Genetics

Choufani, S. and Gibson, W.T. and Turinsky, A.L. and Chung, B.H.Y. and Wang, T. and Garg, K. and Vitriolo, A. and Cohen, A.S.A. and Cyrus, S. and Goodman, S. and Chater-Diehl, E. and Brzezinski, J. and Brudno, M. and Ming, L.H. and White, S.M. and Lynch, S.A. and Clericuzio, C. and Temple, I.K. and Flinter, F. and McConnell, V. and Cushing, T. and Bird, L.M. and Splitt, M. and Kerr, B. and Scherer, S.W. and Machado, J. and Imagawa, E. and Okamoto, N. and Matsumoto, N. and Testa, G. and Iascone, M. and Tenconi, R. and Caluseriu, O. and Mendoza-Londono, R. and Chitayat, D. and Cytrynbaum, C. and Tatton-Brown, K. and Weksberg, R.

Rare SUZ12 variants commonly cause an overgrowth phenotype.

American journal of medical genetics. Part C, Seminars in medical genetics

11 / 2019

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

American journal of medical genetics. Part C, Seminars in medical genetics

11 / 2019

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.

Journal of child neurology

06 / 2019

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

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

Pediatric Rheumatology

Tucker, L.B. and Lamot, L. and Niemietz, I. and Chung, B.K. and Cabral, D.A. and Houghton, K. and Petty, R.E. and Morishita, K.A. and Rice, G.I. and Turvey, S.E. and Gibson, W.T. and Brown, K.L.

Correction to: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)

Nature Communications

Blok, L.S. and Rousseau, J. and Twist, J. and Ehresmann, S. and Takaku, M. and Venselaar, H. and Rodan, L.H. and Nowak, C.B. and Douglas, J. and Swoboda, K.J. and Steeves, M.A. and Sahai, I. and Stumpel, C.T.R.M. and Stegmann, A.P.A. and Wheeler, P. and Willing, M. and Fiala, E. and Kochhar, A. and Gibson, W.T. and Cohen, A.S.A. and Agbahovbe, R. and Innes, A.M. and Au, P.Y.B. and Rankin, J. and Anderson, I.J. and Skinner, S.A. and Louie, R.J. and Warren, H.E. and Afenjar, A. and Keren, B. and Nava, C. and Buratti, J. and Isapof, A. and Rodriguez, D. and Lewandowski, R. and Propst, J. and van Essen, T. and Choi, M. and Lee, S. and Chae, J.H. and Price, S. and Schnur, R.E. and Douglas, G. and Wentzensen, I.M. and Zweier, C. and Reis, A. and Bialer, M.G. and Moore, C. and Koopmans, M. and Brilstra, E.H. and Monroe, G.R. and van Gassen, K.L.I. and van Binsbergen, E. and Newbury-Ecob, R. and Bownass, L. and Bader, I. and Mayr, J.A. and Wortmann, S.B. and Jakielski, K.J. and Strand, E.A. and Kloth, K. and Bierhals, T. and McRae, J.F. and Clayton, S. and Fitzgerald, T.W. and Kaplanis, J. and Prigmore, E. and Rajan, D. and Sifrim, A. and Aitken, S. and Akawi, N. and Alvi, M. and Ambridge, K. and Barrett, D.M. and Bayzetinova, T. and Jones, P. and Jones, W.D. and King, D. and Krishnappa, N. and Mason, L.E. and Singh, T. and Tivey, A.R. and Ahmed, M. and Anjum, U. and Archer, H. and Armstrong, R. and Awada, J. and Balasubramanian, M. and Banka, S. and Baralle, D. and Barnicoat, A. and Batstone, P. and Baty, D. and Bennett, C. and Berg, J. and Bernhard, B. and Bevan, A.P. and Bitner-Glindzicz, M. and Blair, E. and Blyth, M. and Bohanna, D. and Bourdon, L. and Bourn, D. and Bradley, L. and Brady, A. and Brent, S. and Brewer, C. and Brunstrom, K. and Bunyan, D.J. and Burn, J. and Canham, N. and Castle, B. and Chandler, K. and Chatzimichali, E. and Cilliers, D. and Clarke, A. and Clasper, S. and Clayton-Smith, J. and Clowes, V. and Coates, A. and Cole, T. and Colgiu, I. and Collins, A. and Collinson, M.N. and Connell, F. and Cooper, N. and Cox, H. and Cresswell, L. and Cross, G. and Clayton-Smith, J. and Clowes, V. and Coates, A. and Cole, T. and Colgiu, I. and Collins, A. and Collinson, M.N. and Connell, F. and Cooper, N. and Cox, H. and Cresswell, L. and Cross, G. and Crow, Y. and D?Alessandro, M. and Dabir, T. and Davidson, R. and Davies, S. and de Vries, D. and Dean, J. and Deshpande, C. and Devlin, G. and Dixit, A. and Dobbie, A. and Donaldson, A. and Donnai, D. and Donnelly, D. and Donnelly, C. and Douglas, A. and Douzgou, S. and Duncan, A. and Eason, J. and Ellard, S. and Ellis, I. and Elmslie, F. and Evans, K. and Everest, S. and Fendick, T. and Fisher, R. and Flinter, F. and Foulds, N. and Fry, A. and Fryer, A. and Gardiner, C. and Gaunt, L. and Ghali, N. and Gibbons, R. and Gill, H. and Goodship, J. and Goudie, D. and Gray, E. and Green, A. and Greene, P. and Greenhalgh, L. and Gribble, S. and Harrison, R. and Harrison, L. and Harrison, V. and Hawkins, R. and He, L. and Hellens, S. and Henderson, A. and Hewitt, S. and Hildyard, L. and Hobson, E. and Holden, S. and Holder, M. and Holder, S. and Hollingsworth, G. and Homfray, T. and Humphreys, M. and Hurst, J. and Hutton, B. and Ingram, S. and Irving, M. and Islam, L. and Jackson, A. and Jarvis, J. and Jenkins, L. and Johnson, D. and Jones, E. and Josifova, D. and Joss, S. and Kaemba, B. and Kazembe, S. and Kelsell, R. and Kerr, B. and Kingston, H. and Kini, U. and Kinning, E. and Kirby, G. and Kirk, C. and Kivuva, E. and Kraus, A. and Kumar, D. and Kumar, V.K.A. and Lachlan, K. and Lam, W. and Lampe, A. and Langman, C. and Lees, M. and Lim, D. and Longman, C. and Lowther, G. and Lynch, S.A. and Magee, A. and Maher, E. and Male, A. and Mansour, S. and Marks, K. and Martin, K. and Maye, U. and McCann, E. and McConnell, V. and McEntagart, M. and McGowan, R. and McKay, K. and McKee, S. and McMullan, D.J. and McNerlan, S. and McWilliam, C. and Mehta, S. and Metcalfe, K. and Middleton, A. and Miedzybrodzka, Z. and Miles, E. and Mohammed, S. and Montgomery, T. and Moore, D. and Morgan, S. and Morton, J. and Mugalaasi, H. and Murday, V. and Murphy, H. and Naik, S. and Nemeth, A. and Nevitt, L. and Norman, A. and O?Shea, R. and Ogilvie, C. and Ong, K.-R. and Park, S.-M. and Parker, M.J. and Patel, C. and Paterson, J. and Payne, S. and Perrett, D. and Phipps, J. and Pilz, D.T. and Pollard, M. and Pottinger, C. and Poulton, J. and Pratt, N. and Prescott, K. and Pridham, A. and Procter, A. and Purnell, H. and Quarrell, O. and Ragge, N. and Rahbari, R. and Randall, J. and Raymond, L. and Rice, D. and Robert, L. and Roberts, E. and Roberts, J. and Roberts, P. and Roberts, G. and Ross, A. and Rosser, E. and Saggar, A. and Samant, S. and Sampson, J. and Sandford, R. and Sarkar, A. and Schweiger, S. and Scott, R. and Scurr, I. and Selby, A. and Seller, A. and Sequeira, C. and Shannon, N. and Sharif, S. and Shaw-Smith, C. and Shearing, E. and Shears, D. and Sheridan, E. and Simonic, I. and Singzon, R. and Skitt, Z. and Smith, A. and Smith, K. and Smithson, S. and Sneddon, L. and Splitt, M. and Squires, M. and Stewart, F. and Stewart, H. and Straub, V. and Suri, M. and Sutton, V. and Swaminathan, G.J. and Sweeney, E. and Tatton-Brown, K. and Taylor, C. and Taylor, R. and Tein, M. and Temple, I.K. and Thomson, J. and Tischkowitz, M. and Tomkins, S. and Torokwa, A. and Treacy, B. and Turner, C. and Turnpenny, P. and Tysoe, C. and Vandersteen, A. and Varghese, V. and Vasudevan, P. and Vijayarangakannan, P. and Vogt, J. and Wakeling, E. and Wallwark, S. and Waters, J. and Weber, A. and Wellesley, D. and Whiteford, M. and Widaa, S. and Wilcox, S. and Wilkinson, E. and Williams, D. and Williams, N. and Wilson, L. and Woods, G. and Wragg, C. and Wright, M. and Yates, L. and Yau, M. and Nell?ker, C. and Parker, M. and Firth, H.V. and Wright, C.F. and FitzPatrick, D.R. and Barrett, J.C. and Hurles, M.E. and Roberts, J.D. and Petrovich, R.M. and Machida, S. and Kurumizaka, H. and Lelieveld, S. and Pfundt, R. and Jansen, S. and Deriziotis, P. and Faivre, L. and Thevenon, J. and Assoum, M. and Shriberg, L. and Kleefstra, T. and Brunner, H.G. and Wade, P.A. and Fisher, S.E. and Campeau, P.M.

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

Translational Research

Brodehl, A. and Rezazadeh, S. and Williams, T. and Munsie, N.M. and Liedtke, D. and Oh, T. and Ferrier, R. and Shen, Y. and Jones, S.J.M. and Stiegler, A.L. and Boggon, T.J. and Duff, H.J. and Friedman, J.M. and Gibson, W.T. and Childs, S.J. and Gerull, B.

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit"successes and challenges

European Journal of Pediatrics

Elliott, A.M. and du Souich, C. and Lehman, A. and Guella, I. and Evans, D.M. and Candido, T. and Tooman, L. and Armstrong, L. and Clarke, L. and Gibson, W. and Gill, H. and Lavoie, P.M. and Lewis, S. and McKinnon, M.L. and Nikkel, S.M. and Patel, M. and Solimano, A. and Synnes, A. and Ting, J. and van Allen, M. and Christilaw, J. and Farrer, M.J. and Friedman, J.M. and Osiovich, H.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)

Nature Communications

Snijders Blok, L. and Rousseau, J. and Twist, J. and Ehresmann, S. and Takaku, M. and Venselaar, H. and Rodan, L.H. and Nowak, C.B. and Douglas, J. and Swoboda, K.J. and Steeves, M.A. and Sahai, I. and Stumpel, C.T.R.M. and Stegmann, A.P.A. and Wheeler, P. and Willing, M. and Fiala, E. and Kochhar, A. and Gibson, W.T. and Cohen, A.S.A. and Agbahovbe, R. and Innes, A.M. and Au, P.Y.B. and Rankin, J. and Anderson, I.J. and Skinner, S.A. and Louie, R.J. and Warren, H.E. and Afenjar, A. and Keren, B. and Nava, C. and Buratti, J. and Isapof, A. and Rodriguez, D. and Lewandowski, R. and Propst, J. and van Essen, T. and Choi, M. and Lee, S. and Chae, J.H. and Price, S. and Schnur, R.E. and Douglas, G. and Wentzensen, I.M. and Zweier, C. and Reis, A. and Bialer, M.G. and Moore, C. and Koopmans, M. and Brilstra, E.H. and Monroe, G.R. and van Gassen, K.L.I. and van Binsbergen, E. and Newbury-Ecob, R. and Bownass, L. and Bader, I. and Mayr, J.A. and Wortmann, S.B. and Jakielski, K.J. and Strand, E.A. and Kloth, K. and Bierhals, T. and McRae, J.F. and Clayton, S. and Fitzgerald, T.W. and Kaplanis, J. and Prigmore, E. and Rajan, D. and Sifrim, A. and Aitken, S. and Akawi, N. and Alvi, M. and Ambridge, K. and Barrett, D.M. and Bayzetinova, T. and Jones, P. and Jones, W.D. and King, D. and Krishnappa, N. and Mason, L.E. and Singh, T. and Tivey, A.R. and Ahmed, M. and Anjum, U. and Archer, H. and Armstrong, R. and Awada, J. and Balasubramanian, M. and Banka, S. and Baralle, D. and Barnicoat, A. and Batstone, P. and Baty, D. and Bennett, C. and Berg, J. and Bernhard, B. and Bevan, A.P. and Bitner-Glindzicz, M. and Blair, E. and Blyth, M. and Bohanna, D. and Bourdon, L. and Bourn, D. and Bradley, L. and Brady, A. and Brent, S. and Brewer, C. and Brunstrom, K. and Bunyan, D.J. and Burn, J. and Canham, N. and Castle, B. and Chandler, K. and Chatzimichali, E. and Cilliers, D. and Clarke, A. and Clasper, S. and Clayton-Smith, J. and Clowes, V. and Coates, A. and Cole, T. and Colgiu, I. and Collins, A. and Collinson, M.N. and Connell, F. and Cooper, N. and Cox, H. and Cresswell, L. and Cross, G. and Crow, Y. and D?Alessandro, M. and Dabir, T. and Davidson, R. and Davies, S. and de Vries, D. and Dean, J. and Deshpande, C. and Devlin, G. and Dixit, A. and Dobbie, A. and Donaldson, A. and Donnai, D. and Donnelly, D. and Donnelly, C. and Douglas, A. and Douzgou, S. and Duncan, A. and Eason, J. and Ellard, S. and Ellis, I. and Elmslie, F. and Evans, K. and Everest, S. and Fendick, T. and Fisher, R. and Flinter, F. and Foulds, N. and Fry, A. and Fryer, A. and Gardiner, C. and Gaunt, L. and Ghali, N. and Gibbons, R. and Gill, H. and Goodship, J. and Goudie, D. and Gray, E. and Green, A. and Greene, P. and Greenhalgh, L. and Gribble, S. and Harrison, R. and Harrison, L. and Harrison, V. and Hawkins, R. and He, L. and Hellens, S. and Henderson, A. and Hewitt, S. and Hildyard, L. and Hobson, E. and Holden, S. and Holder, M. and Holder, S. and Hollingsworth, G. and Homfray, T. and Humphreys, M. and Hurst, J. and Hutton, B. and Ingram, S. and Irving, M. and Islam, L. and Jackson, A. and Jarvis, J. and Jenkins, L. and Johnson, D. and Jones, E. and Josifova, D. and Joss, S. and Kaemba, B. and Kazembe, S. and Kelsell, R. and Kerr, B. and Kingston, H. and Kini, U. and Kinning, E. and Kirby, G. and Kirk, C. and Kivuva, E. and Kraus, A. and Kumar, D. and Kumar, V.K.A. and Lachlan, K. and Lam, W. and Lampe, A. and Langman, C. and Lees, M. and Lim, D. and Longman, C. and Lowther, G. and Lynch, S.A. and Magee, A. and Maher, E. and Male, A. and Mansour, S. and Marks, K. and Martin, K. and Maye, U. and McCann, E. and McConnell, V. and McEntagart, M. and McGowan, R. and McKay, K. and McKee, S. and McMullan, D.J. and McNerlan, S. and McWilliam, C. and Mehta, S. and Metcalfe, K. and Middleton, A. and Miedzybrodzka, Z. and Miles, E. and Mohammed, S. and Montgomery, T. and Moore, D. and Morgan, S. and Morton, J. and Mugalaasi, H. and Murday, V. and Murphy, H. and Naik, S. and Nemeth, A. and Nevitt, L. and Norman, A. and O?Shea, R. and Ogilvie, C. and Ong, K.-R. and Park, S.-M. and Parker, M.J. and Patel, C. and Paterson, J. and Payne, S. and Perrett, D. and Phipps, J. and Pilz, D.T. and Pollard, M. and Pottinger, C. and Poulton, J. and Pratt, N. and Prescott, K. and Pridham, A. and Procter, A. and Purnell, H. and Quarrell, O. and Ragge, N. and Rahbari, R. and Randall, J. and Raymond, L. and Rice, D. and Robert, L. and Roberts, E. and Roberts, J. and Roberts, P. and Roberts, G. and Ross, A. and Rosser, E. and Saggar, A. and Samant, S. and Sampson, J. and Sandford, R. and Sarkar, A. and Schweiger, S. and Scott, R. and Scurr, I. and Selby, A. and Seller, A. and Sequeira, C. and Shannon, N. and Sharif, S. and Shaw-Smith, C. and Shearing, E. and Shears, D. and Sheridan, E. and Simonic, I. and Singzon, R. and Skitt, Z. and Smith, A. and Smith, K. and Smithson, S. and Sneddon, L. and Splitt, M. and Squires, M. and Stewart, F. and Stewart, H. and Straub, V. and Suri, M. and Sutton, V. and Swaminathan, G.J. and Sweeney, E. and Tatton-Brown, K. and Taylor, C. and Taylor, R. and Tein, M. and Temple, I.K. and Thomson, J. and Tischkowitz, M. and Tomkins, S. and Torokwa, A. and Treacy, B. and Turner, C. and Turnpenny, P. and Tysoe, C. and Vandersteen, A. and Varghese, V. and Vasudevan, P. and Vijayarangakannan, P. and Vogt, J. and Wakeling, E. and Wallwark, S. and Waters, J. and Weber, A. and Wellesley, D. and Whiteford, M. and Widaa, S. and Wilcox, S. and Wilkinson, E. and Williams, D. and Williams, N. and Wilson, L. and Woods, G. and Wragg, C. and Wright, M. and Yates, L. and Yau, M. and Nell?ker, C. and Parker, M. and Firth, H.V. and Wright, C.F. and FitzPatrick, D.R. and Barrett, J.C. and Hurles, M.E. and Roberts, J.D. and Petrovich, R.M. and Machida, S. and Kurumizaka, H. and Lelieveld, S. and Pfundt, R. and Jansen, S. and Deriziotis, P. and Faivre, L. and Thevenon, J. and Assoum, M. and Shriberg, L. and Kleefstra, T. and Brunner, H.G. and Wade, P.A. and Fisher, S.E. and Campeau, P.M.

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

Nature Communications

Snijders Blok, L. and Rousseau, J. and Twist, J. and Ehresmann, S. and Takaku, M. and Venselaar, H. and Rodan, L.H. and Nowak, C.B. and Douglas, J. and Swoboda, K.J. and Steeves, M.A. and Sahai, I. and Stumpel, C.T.R.M. and Stegmann, A.P.A. and Wheeler, P. and Willing, M. and Fiala, E. and Kochhar, A. and Gibson, W.T. and Cohen, A.S.A. and Agbahovbe, R. and Innes, A.M. and Au, P.Y.B. and Rankin, J. and Anderson, I.J. and Skinner, S.A. and Louie, R.J. and Warren, H.E. and Afenjar, A. and Keren, B. and Nava, C. and Buratti, J. and Isapof, A. and Rodriguez, D. and Lewandowski, R. and Propst, J. and van Essen, T. and Choi, M. and Lee, S. and Chae, J.H. and Price, S. and Schnur, R.E. and Douglas, G. and Wentzensen, I.M. and Zweier, C. and Reis, A. and Bialer, M.G. and Moore, C. and Koopmans, M. and Brilstra, E.H. and Monroe, G.R. and van Gassen, K.L.I. and van Binsbergen, E. and Newbury-Ecob, R. and Bownass, L. and Bader, I. and Mayr, J.A. and Wortmann, S.B. and Jakielski, K.J. and Strand, E.A. and Kloth, K. and Bierhals, T. and Roberts, J.D. and Petrovich, R.M. and Machida, S. and Kurumizaka, H. and Lelieveld, S. and Pfundt, R. and Jansen, S. and Deriziotis, P. and Faive, L. and Thevenon, J. and Assoum, M. and Shriberg, L. and Kleefstra, T. and Brunner, H.G. and Wade, P.A. and Fisher, S.E. and Campeau, P.M.

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

Cell Reports

Sabatini, P.V. and Speckmann, T. and Nian, C. and Glavas, M.M. and Wong, C.K. and Yoon, J.S. and Kin, T. and Shapiro, A.M.J. and Gibson, W.T. and Verchere, C.B. and Lynn, F.C.

Genetic ablation of cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition

American Journal of Physiology - Endocrinology and Metabolism

Patankar, J.V. and Wong, C.K. and Morampudi, V. and Gibson, W.T. and Vallance, B. and Ioannou, G.N. and Hayden, M.R.

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

Molecular Syndromology

Kamien, B. and Ronan, A. and Poke, G. and Sinnerbrink, I. and Baynam, G. and Ward, M. and Gibson, W.T. and Dudding-Byth, T. and Scott, R.J.

The p300 and CBP transcriptional coactivators are required for -cell and a-cell proliferation

Diabetes

Wong, C.K. and Wade-Vallance, A.K. and Luciani, D.S. and Brindle, P.K. and Lynn, F.C. and Gibson, W.T.

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

Orphanet Journal of Rare Diseases

Barclay, S.F. and Rand, C.M. and Nguyen, L. and Wilson, R.J.A. and Wevrick, R. and Gibson, W.T. and Bech-Hansen, N.T. and Weese-Mayer, D.E.

Practice guideline: Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Journal of Medical Genetics

Armour, C.M. and Dougan, S.D. and Brock, J.-A. and Chari, R. and Chodirker, B.N. and Debie, I. and Evans, J.A. and Gibson, W.T. and Kolomietz, E. and Nelson, T.N. and Tihy, F. and Thomas, M.A. and Stavropoulos, D.J.

Loss of maternal EED results in postnatal overgrowth

Clinical Epigenetics

Prokopuk, L. and Stringer, J.M. and White, C.R. and Vossen, R.H.A.M. and White, S.J. and Cohen, A.S.A. and Gibson, W.T. and Western, P.S.

Identification of rare de novo epigenetic variations in congenital disorders

bioRxiv

Barbosa, M. and Joshi, R.S. and Garg, P. and Martin-Trujillo, A. and Patel, N. and Jadhav, B. and Watson, C.T. and Gibson, W. and Chetnik, K. and Tessereau, C. and Mei, H. and de Rubeis, S. and Reichert, J. and Lopes, F. and Vissers, L.E.L.M. and Kleefstra, T. and Grice, D.E. and Edelmann, L. and Soares, G. and Maciel, P. and Brunner, H.G. and Buxbaum, J.D. and Gelb, B.D. and Sharp, A.J.

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

American Journal of Medical Genetics, Part A

Thibodeau, M.L. and Peters, C.H. and Townsend, K.N. and Shen, Y. and Hendson, G. and Adam, S. and Selby, K. and Macleod, P.M. and Gershome, C. and Ruben, P. and Jones, S.J.M. and Friedman, J.M. and Gibson, W.T. and Horvath, G.A.

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.

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.

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.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

American Journal of Human Genetics

Lehman, A. and Thouta, S. and Mancini, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Adam, S. and du Souich, C. and Elliott, A.M. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Boelman, C. and Bolbocean, C. and Buerki, S.E. and Candido, T. and Eydoux, P. and Evans, D.M. and Gibson, W. and Horvath, G. and Huh, L. and Sinclair, G. and Tarling, T. and Toyota, E.B. and Townsend, K.N. and Van Allen, M.I. and Vercauteren, S. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.

Corrigendum: A novel mutation in EED associated with overgrowth

Journal of human genetics

Cohen, A.S. and Tuysuz, B. and Shen, Y. and Bhalla, S.K. and Jones, S.J. and Gibson, W.T.

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

01 / 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.

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

Medicine and Sport Science

Gibson, W.T.

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.

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.

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

Journal of Genetic Counseling

Predham, S. and Hamilton, S. and Elliott, A.M. and T. Gibson, W.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Clinical genetics

09 / 2015

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

Peptides

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.

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.

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.

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.

Leptin and adiponectin: Examining their clinical significance in obesity

University of Toronto Medical Journal

Tan, J. and Gibson, W.T.

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.

Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations

Clinical Genetics

Gibson, W.T.

Autosomal dominant PIK3R1 mutations cause SHORT syndrome

Clinical Genetics

Chung, B.K. and Gibson, W.T.

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.

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.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Clinical Genetics

Filges, I. and Nosova, E. and Bruder, E. and Tercanli, S. and Townsend, K. and Gibson, W.T. and Rthlisberger, B. and Heinimann, K. and Hall, J.G. and Gregory-Evans, C.Y. and Wasserman, W.W. and Miny, P. and Friedman, J.M.

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.

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.

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

Molecular Genetics and Genomic Medicine

Baskin, B. and Stavropoulos, D.J. and Rebeiro, P.A. and Orr, J. and Li, M. and Steele, L. and Marshall, C.R. and Lemire, E.G. and Boycott, K.M. and Gibson, W. and Ray, P.N.

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. and Ttreault, M. and Gibson, W. and Guerrero, K. and Cohen, A. and Gburek-Augustat, J. and Synofzik, M. and Brais, B. and Stevens, C.A. and Sanchez-Carpintero, R. and Goizet, C. and Naidu, S. and Vanderver, A. and Bernard, G.

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.

Mutations in EZH2 Cause Weaver Syndrome.

Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.

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.

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.

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.

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.

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.

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.

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.

Genetic association studies for complex traits: Relevance for the sports medicine practitioner

British Journal of Sports Medicine

Gibson, W.T.

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 Gcz, J. and Gibson, W.T.

Key concepts in human genetics: Understanding the complex phenotype

Medicine and Sport Science

Gibson, W.T.

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.

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.

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.

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.

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.

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

American Journal of Human Genetics

Friedman, J.M. and Baross, . 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.

The beat goes on: ciliary proteins are defective in Meckel syndrome.

Clinical genetics

Gibson, W.T.

Mycophenolate mofetil and animal models

Lupus

Gibson, W.T. and Hayden, M.R.

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.

Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy

Journal of the National Medical Association

Gibson, W. and Trevenen, C. and Giuffre, M. and Leung, A.K.C.

A new Marfan-like syndrome caused by pertubed transforming growth factor- signaling

Clinical Genetics

Gibson, W.T.

Another four bite the dust: mutations in a ubiquitously expressed filamin protein cause several skeletal dysplasias

Clinical Genetics

William T Gibson

06 / 2004

So many asthma loci, so little time

Clinical Genetics

Paul C Orban and William T Gibson

06 / 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.

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.

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.

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

Human reproduction and genetic ethics

Gibson, W.T. and Dormor, D.J.

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

04 / 2002

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: A novel neonatal phenotype similar to peroxisomal biogenesis disorders

American Journal of Human Genetics

Corzo, D. and Gibson, W. and Johnson, K. and Mitchell, G. and LePage, G. and Cox, G.F. and Casey, R. and Zeiss, C. and Tyson, H. and Cutting, G.R. and Raymond, G.V. and Smith, K.D. and Watkins, P.A. and Moser, A.B. and Moser, H.W. and Steinberg, S.J.

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.

Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1)gene encoding a high-affinity receptor for nerve growth factor

American Journal of Human Genetics

Mardy, S. and Miura, Y. and Endo, F. and Matsuda, I. and Sztriha, L. and Frossard, P. and Moosa, A. and Ismail, E.A.R. and Macaya, A. and Andria, G. and Toscano, E. and Gibson, W. and Graham, G.E. and Indo, Y.

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.

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.

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.