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.
DOI: 10.1152/ajpendo.00120.2024
2024

Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyse Human EED Variant Function
bioRxiv
Cyrus, S.S. and Giró, S.M. and Lian, T. and Allan, D.W. and Gibson, W.T.
DOI: 10.1101/2024.02.18.580839
2024

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.
DOI: 10.1101/2024.01.12.574247
2024

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.
DOI: 10.1016/j.pnpbp.2023.110888
2024

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
Science Advances
López-Tobón, 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.
DOI: 10.1126/sciadv.adh2726
2023

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.
DOI: 10.3389/fgene.2023.1113086
2023

Activation of ß-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 Henríquez, J.P. and Gibson, W.T. and Gilbert, P.M. and Rossi, F.M.V.
DOI: 10.1016/j.devcel.2023.02.009
2023

The H3K27 acetyltransferase p300 is dispensable for thermogenic adipose tissue formation and function.
bioRxiv
Gamu, D. and Cameron, M.S. and Gibson, W.T.
DOI: 10.1101/2023.08.23.554499
2023

Benchmarking brain organoid recapitulation of fetal corticogenesis
Cristina Cheroni and Sebastiano Trattaro and Nicolò Caporale and Alejandro López-Tobón and Erika Tenderini and Flavia Troglio and Michele Gabriele and Raul Bardini Bressan and Steven M Pollard and William T Gibson and Giuseppe Testa
DOI: 10.1101/2022.04.22.488753
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
DOI: 10.1101/2022.03.08.483326
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.
DOI: 10.1101/2022.09.18.508436
2022

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.
DOI: 10.1016/j.xhgg.2022.100108
2022

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
DOI: 10.1210/clinem/dgab244
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 Sébire, 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 Krägeloh-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 Özklnay, 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 Vázquez-López, 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.
DOI: 10.1210/clinem/dgaa700
2021

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.
DOI: 10.1101/mcs.a006125
2021

SETD1B -associated neurodevelopmental disorder
Journal of Medical Genetics
Roston, A. and Evans, D. and Gill, H. and McKinnon, M. and Isidor, B. and Cogné, 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.
DOI: 10.1136/jmedgenet-2019-106756
2021

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 López-Giráldez, 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 Õunap, 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.
DOI: 10.1002/ajmg.a.61926
2021

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
DOI: 10.1101/mcs.a005058
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
DOI: 10.1084/jem.20191542
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
DOI: 10.1101/2020.04.05.026633
04/2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain : a journal of neurology
DOI: 10.1093/brain/awz379
PubMed: 31834374
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.
DOI: 10.1016/j.ajhg.2020.03.008
2020

Rare SUZ12 variants commonly cause an overgrowth phenotype.
American journal of medical genetics. Part C, Seminars in medical genetics
DOI: 10.1002/ajmg.c.31748
PubMed: 31736240
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
DOI: 10.1002/ajmg.c.31754
PubMed: 31724824
11/2019

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Journal of child neurology
DOI: 10.1177/0883073819854853
PubMed: 31208268
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
DOI: 10.1038/s10038-019-0561-0
PubMed: 30670789
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.
DOI: 10.1186/s12969-019-0374-x
2019

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.
DOI: 10.1038/s41467-019-08800-2
2019

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.
DOI: 10.1016/j.trsl.2019.02.004
2019

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.
DOI: 10.1007/s00431-019-03399-4
2019

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.
DOI: 10.1038/s41467-019-10161-9
2019

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.
DOI: 10.1038/s41467-018-06014-6
2018

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.
DOI: 10.1016/j.celrep.2017.12.033
2018

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.
DOI: 10.1152/ajpendo.00172.2017
2018

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.
DOI: 10.1159/000484532
2018

The p300 and CBP transcriptional coactivators are required for ß-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.
DOI: 10.2337/db17-0237
2018

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.
DOI: 10.1186/s13023-018-0860-0
2018

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.
DOI: 10.1136/jmedgenet-2017-105013
2018

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.
DOI: 10.1186/s13148-018-0526-8
2018

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.
DOI: 10.1101/250787
2018

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.
DOI: 10.1002/ajmg.a.38400
2017

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
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

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

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.
DOI: 10.1016/j.ajhg.2017.05.016
2017

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.
DOI: 10.1038/jhg.2016.156
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

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

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

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
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

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.
DOI: 10.1007/s10897-015-9882-0
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
PubMed: 26283276
09/2015

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

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

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

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

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

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

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

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 Röthlisberger, B. and Heinimann, K. and Hall, J.G. and Gregory-Evans, C.Y. and Wasserman, W.W. and Miny, P. and Friedman, J.M.
DOI: 10.1111/cge.12301
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

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

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.
DOI: 10.1002/mgg3.108
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. and Tétreault, 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.
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.
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.
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

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

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

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

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

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

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

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

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

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

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

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.
2005

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 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
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

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

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

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.
DOI: 10.1086/340849
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

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.
DOI: 10.1086/302422
1999

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

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