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Publications: Baynam, Gareth

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Journal Article

Woodward, K.J., Stampalia, J., Vanyai, H., Rijhumal, H., Potts, K., Taylor, F., Peverall, J., Grumball, T., Sivamoorthy, S., Alinejad-Rokny, H., Wray, J., Whitehouse, A., Nagarajan, L., Scurlock, J., Afchani, S., Edwards, M., Murch, A., Beilby, J., Baynam, G., Kiraly-Borri, C., McKenzie, F. and Heng, J.I.T. (2019) Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance. Molecular Genetics & Genomic Medicine, 7 (2).

Bilkey, G.A., Burns, B.L., Coles, E.P., Bowman, F.L., Beilby, J.P., Pachter, N.S., Baynam, G., Dawkins, H.J.S., Nowak, K.J. and Weeramanthri, T.S. (2019) Genomic testing for human health and disease across the life cycle: Applications and ethical, legal, and social challenges. Frontiers in Public Health, 7 .

Burns, B.L., Bilkey, G.A., Coles, E.P., Bowman, F.L., Beilby, J.P., Pachter, N.S., Baynam, G., Dawkins, H.J.S., Weeramanthri, T.S. and Nowak, K.J. (2019) Healthcare system priorities for successful integration of genomics: An Australian focus. Frontiers in Public Health, 7 .

MacLennan, A.H, Kruer, M.C, Baynam, G., Moreno-De-Luca, A., Wilson, Y.A., Zhu, C., Wintle, R.F. and Gecz, J. (2018) Cerebral palsy and genomics: an international consortium. Developmental Medicine & Child Neurology, 60 (2). pp. 209-210.

Bilkey, G.A., Baynam, G. and Molster, C. (2018) Changes to the employers' use of genetic information and Non-discrimination for health insurance in the USA: Implications for Australians. Frontiers in Public Health, 6 .

Weeramanthri, T.S., Dawkins, H.J.S., Baynam, G., Bellgard, M., Gudes, O. and Semmens, J.B. (2018) Editorial: Precision Public Health. Frontiers in Public Health, 6 .

Meester, J.A.N., Sukalo, M., Schröder, K.C., Schanze, D., Baynam, G., Borck, G., Bramswig, N.C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D.S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C., Salih, M.A., Savarirayan, R., Scurr, I., Splitt, M., Thompson, E., Titheradge, H., Travers, C.P., Van Maldergem, L., Whiteford, M., Wieczorek, D., Vandeweyer, G., Trembath, R., Van Laer, L., Loeys, B.L., Zenker, M., Southgate, L. and Wuyts, W. (2018) Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Human Mutation . Early View.

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B, Danis, D., Gourdine, J-P, Gargano, M., Harris, N.L, Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A, Mungall, C. and Robinson, P.N. (2018) Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Research, 47 (D1). D1018-D1027.

Nowak, K.J., Bauskis, A., Dawkins, H.J. and Baynam, G. (2018) Incidental inequity. European Journal of Human Genetics, 26 . pp. 616-617.

Begemann, M., Rezwan, F.I., Beygo, J., Docherty, L.E., Kolarova, J., Schroeder, C., Buiting, K., Chokkalingam, K., Degenhardt, F., Wakeling, E.L., Kleinle, S., González Fassrainer, D., Oehl-Jaschkowitz, B., Turner, C.L.S, Patalan, M., Gizewska, M., Binder, G., Bich Ngoc, C.T., Chi Dung, V., Mehta, S.G., Baynam, G., Hamilton-Shield, J.P., Aljareh, S., Lokulo-Sodipe, O., Horton, R., Siebert, R., Elbracht, M., Temple, I.K., Eggermann, T. and Mackay, D.J.G. (2018) Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. Journal of Medical Genetics, 55 (7). pp. 497-504.

Vasilevsky, N.A., Foster, E.D., Engelstad, M.E., Carmody, L., Might, M., Chambers, C., Dawkins, H.J.S., Lewis, J., Della Rocca, M.G., Snyder, M., Boerkoel, C.F., Rath, A., Terry, S.F., Kent, A., Searle, B., Baynam, G., Jones, E., Gavin, P., Bamshad, M., Chong, J., Groza, T., Adams, D., Resnick, A.C., Heath, A.P., Mungall, C., Holm, I.A., Kageth, K., Brownstein, C.A., Shefchek, K., McMurry, J.A., Robinson, P.N., Köhler, S. and Haendel, M.A. (2018) Plain-language medical vocabulary for precision diagnosis. Nature Genetics, 50 . pp. 474-476.

Kamien, B., Ronan, A., Poke, G., Sinnerbrink, I., Baynam, G., Ward, M., Gibson, W.T., Dudding-Byth, T. and Scott, R.J. (2018) A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing. Molecular Syndromology, 9 (2). pp. 70-82.

Baynam, G., Bauskis, A., Pachter, N., Schofield, L., Verhoef, H., Palmer, R.L., Kung, S., Helmholz, P., Ridout, M., Walker, C.E., Hawkins, A., Goldblatt, J., Weeramanthri, T.S., Dawkins, H.J.S. and Molster, C.M. (2017) 3-Dimensional Facial Analysis—Facing Precision Public Health. Frontiers in Public Health, 5 .

Austin, C.P., Cutillo, C.M., Lau, L.P.L., Jonker, A.H., Rath, A., Julkowska, D., Thomson, D., Terry, S.F., de Montleau, B., Ardigò, D., Hivert, V., Boycott, K.M., Baynam, G., Kaufmann, P., Taruscio, D., Lochmüller, H., Suematsu, M., Incerti, C., Draghia-Akli, R., Norstedt, I., Wang, L. and Dawkins, H.J.S. (2017) Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Clinical and Translational Science, 11 (1). pp. 21-27.

Altmüller, F., Lissewski, C., Bertola, D., Flex, E., Stark, Z., Spranger, S., Baynam, G., Buscarilli, M., Dyack, S., Gillis, J., Yntema, H.G., Pantaleoni, F., van Loon, R.L.E., MacKay, S., Mina, K., Schanze, I., Tan, T.Y., Walsh, M., White, S.M., Niewisch, M.R., García-Miñaúr, S., Plaza, D., Ahmadian, M.R., Cavé, H., Tartaglia, M. and Zenker, M. (2017) Genotype and phenotype spectrum of NRAS germline variants. European Journal of Human Genetics, 25 (7). pp. 823-831.

Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C.E., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M.E., Mattick, J.S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P.W., Daly, F., Weeramanthri, T., Dawkins, H. and Goldblatt, J. (2017) Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet Journal of Rare Diseases, 12 (1).

Molster, C.M., Lister, K., Metternick-Jones, S., Baynam, G., Clarke, A.J., Straub, V., Dawkins, H.J.S. and Laing, N. (2017) Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments. Frontiers in Public Health, 5 . Article 25.

Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., Kaufmann, P., Le Cam, Y., Hivert, V. and Austin, C.P. (2017) Progress in rare diseases research 2010-2016: An IRDiRC perspective. Clinical and Translational Science, 11 (1). pp. 11-20.

Au, P.Y.B., Huang, L., Broley, S., Gallagher, L., Creede, E., Lahey, D., Ordorica, S., Mina, K., Boycott, K.M., Baynam, G. and Dyment, D.A. (2017) Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome. European Journal of Medical Genetics, 60 (7). pp. 359-364.

Walker, C.E., Mahede, T., Davis, G., Miller, L.J., Girschik, J., Brameld, K., Sun, W., Rathod, A., Ayme, S., Zubrick, S.R., Baynam, G.S., Molster, C., Dawkins, H.J.S. and Weeramanthri, T.S. (2017) The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genetics in Medicine, 19 (5). pp. 546-552.

Poulton, C., Baynam, G., Yates, C., Alinejad-Rokny, H., Williams, S., Wright, H., Woodward, K.J., Sivamoorthy, S., Peverall, J., Shipman, P., Ravine, D., Beilby, J. and Heng, J.I-T (2017) A review of structural brain abnormalities in Pallister-Killian syndrome. Molecular Genetics & Genomic Medicine, 6 (1). pp. 92-98.

Bögershausen, N., Gatinois, V., Riehmer, V., Kayserili, H., Becker, J., Thoenes, M., Simsek-Kiper, P.Ö., Barat-Houari, M., Elcioglu, N.H., Wieczorek, D., Tinschert, S., Sarrabay, G., Strom, T.M., Fabre, A., Baynam, G., Sanchez, E., Nürnberg, G., Altunoglu, U., Capri, Y., Isidor, B., Lacombe, D., Corsini, C., Cormier-Daire, V., Sanlaville, D., Giuliano, F., Le Quan Sang, K-H, Kayirangwa, H., Nürnberg, P., Meitinger, T., Boduroglu, K., Zoll, B., Lyonnet, S., Tzschach, A., Verloes, A., Di Donato, N., Touitou, I., Netzer, C., Li, Y., Geneviève, D., Yigit, G. and Wollnik, B. (2016) Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-Linked Kabuki Syndrome subtype 2. Human Mutation, 37 (9). pp. 847-864.

Hu, H., Haas, S.A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A.P.M., Weinert, S., Froyen, G., Frints, S.G M, Laumonnier, F., Zemojtel, T., Love, M.I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M.A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K.L., Belet, S., van Roozendaal, K.E.P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., van Bömmel, A., Göke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Müller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bieleńska, A., Ousager, L.B., Wieacker, P., Rodríguez Criado, G., Bondeson, M-L, Annerén, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T.F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T.J., Chen, W., Ropers, H-H and Kalscheuer, V.M. (2016) X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry, 21 (1). pp. 133-148.

Simeoni, I., Stephens, J.C., Hu, F., Deevi, S.V.V., Megy, K., Bariana, T.K., Lentaigne, C., Schulman, S., Sivapalaratnam, S., Vries, M.J.A., Westbury, S.K., Greene, D., Papadia, S., Alessi, M-C, Attwood, A.P., Ballmaier, M., Baynam, G., Bermejo, E., Bertoli, M., Bray, P.F., Bury, L., Cattaneo, M., Collins, P., Daugherty, L.C., Favier, R., French, D.L., Furie, B., Gattens, M., Germeshausen, M., Ghevaert, C., Goodeve, A.C., Guerrero, J.A., Hampshire, D.J., Hart, D.P., Heemskerk, J.W.M., Henskens, Y.M.C., Hill, M., Hogg, N., Jolley, J.D., Kahr, W.H., Kelly, A.M., Kerr, R., Kostadima, M., Kunishima, S., Lambert, M.P., Liesner, R., Lopez, J.A., Mapeta, R.P., Mathias, M., Millar, C.M., Nathwani, A., Neerman-Arbez, M., Nurden, A.T., Nurden, P., Othman, M., Peerlinck, K., Perry, D.J., Poudel, P., Reitsma, P., Rondina, M.T., Smethurst, P.A., Stevenson, W., Szkotak, A., Tuna, S., van Geet, C., Whitehorn, D., Wilcox, D.A., Zhang, B., Revel-Vilk, S., Gresele, P., Bellissimo, D.B., Penkett, C.J., Laffan, M.A., Mumford, A.D., Rendon, A., Gomez, K., Freson, K., Ouwehand, W.H. and Turro, E. (2016) A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood, 127 (23). pp. 2791-2803.

Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Walker, C.E., Molster, C., Blackwell, J.M., Jamieson, S., Tang, D., Lassmann, T., Mina, K., Beilby, J., Davis, M., Laing, N., Murphy, L., Weeramanthri, T., Dawkins, H. and Goldblatt, J. (2016) The rare and undiagnosed diseases diagnostic service – Application of massively parallel sequencing in a state-wide clinical service. Orphanet Journal of Rare Diseases, 11 (1).

Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Graham, C., Mina, K., Beilby, J., Davis, M., Weeramanthri, T., Dawkins, H. and Goldblatt, J. (2015) AB002. The rare and undiagnosed diseases diagnostic service. Annals of Translational Medicine, 3 (Supp. 2).

Groza, T., Kohler, S., Doelken, S., Collier, N., Oellrich, A., Smedley, D., Couto, F.M., Baynam, G., Zankl, A. and Robinson, P.N. (2015) Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora. Database, 2015 . pp. 1-13.

Kung, S., Walters, M., Claes, P., LeSouef, P., Goldblatt, J., Martin, A., Balasubramaniam, S. and Baynam, G. (2015) Monitoring of therapy for mucopolysaccharidosis Type I Using dysmorphometric facial phenotypic signatures. JMID Reports, 22 . pp. 99-106.

Bertoli-Avella, A.M., Gillis, E., Morisaki, H., Verhagen, J.M.A., de Graaf, B.M., van de Beek, G., Gallo, E., Kruithof, B.P.T., Venselaar, H., Myers, L.A., Laga, S., Doyle, A.J., Oswald, G., van Cappellen, G.W.A., Yamanaka, I., van der Helm, R.M., Beverloo, B., de Klein, A., Pardo, L., Lammens, M., Evers, C., Devriendt, K., Dumoulein, M., Timmermans, J., Bruggenwirth, H.T., Verheijen, F., Rodrigus, I., Baynam, G., Kempers, M., Saenen, J., Van Craenenbroeck, E.M., Minatoya, K., Matsukawa, R., Tsukube, T., Kubo, N., Hofstra, R., Goumans, M.J., Bekkers, J.A., Roos-Hesselink, J.W., van de Laar, I.M.B.H., Dietz, H.C., Van Laer, L., Morisaki, T., Wessels, M.W. and Loeys, B.L. (2015) Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections. Journal of the American College of Cardiology, 65 (13). pp. 1324-1336.

Baynam, G., Walters, M., Claes, P., Kung, S., LeSouef, P., Dawkins, H., Bellgard, M., Girdea, M., Brudno, M., Robinson, P., Zanki, A., Groza, T., Gillet, D. and Goldblatt, J. (2015) Phenotyping: Targeting genotype's rich cousin for diagnosis. Journal of Paediatrics and Child Health, 51 (4). pp. 381-386.

Abraham, M.B., Carpenter, K., Baynam, G.S., Mackay, D.J.G., Price, G. and Choong, C.S. (2015) Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome. Journal of Paediatrics and Child Health, 51 (5). pp. 555-560.

Taruscio, D., Groft, S.C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A. and Gahl, W.A. (2015) Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Molecular Genetics and Metabolism, 116 (4). pp. 223-225.

Baynam, G. (2015) A diagnostic odyssey - red flags in the red sand. Medicus, 55 (9). pp. 40-43.

Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, H. and Goldblatt, J. (2015) A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. American Journal of Medical Genetics: Part A, 167 (7). pp. 1659-1667.

Groza, T., Kohler, S., Moldenhauer, D., Vasilevsky, N., Baynam, G., Zemojtel, T., Schriml, L.M., Kibbe, W.A., Schofield, P.N., Beck, T., Vasant, D., Brookes, A.J., Zankl, A., Washington, N.L., Mungall, C.J., Lewis, S.E., Haendel, M.A., Parkinson, H. and Robinson, P.N. (2015) The human phenotype ontology: Semantic unification of common and rare disease. The American Journal of Human Genetics, 97 (1). pp. 111-124.

Bellgard, M., Beroud, C., Parkinson, K., Harris, T., Ayme, S., Baynam, G., Weeramanthri, T., Dawkins, H. and Hunter, A. (2014) Correction: Dispelling myths about rare disease registry system development. Source Code for Biology and Medicine, 9 (1).

Lazarus, S., McInerney-Leo, A.M., McKenzie, F.A., Baynam, G., Broley, S., Cavan, B.V., Munns, C.F., Pruijs, J.E., Sillence, D., Terhal, P.A., Pryce, K., Brown, M.A., Zankl, A., Thomas, G. and Duncan, E.L. (2014) The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15 (1). p. 107.

Luquetti, D., Claes, P., Liberton, D.K., Daniels, K., Rosana, K.M., Quillen, E.E., Pearson, L.N., McEvoy, B., Bauchet, M., Zaidi, A.A., Yao, W., Tang, H, Barsh, G.S., Absher, D.M., Puts, D.A., Rocha, J., Beleza, S., Pereira, R.W., Baynam, G., Suetens, P., Vandermeulen, D., Wagner, J.K., Boster, J.S. and Shriver, M.D. (2014) Modeling 3D Facial Shape from DNA. PLoS Genetics, 10 (3). e1004224.

Rath, S.R., Bartley, A., Charles, A., Powers, Neil, Baynam, G., Jones, T., Priest, J.R., Foulkes, W.D. and Choong, C.S.Y. (2014) Multinodular goiter in children: An important pointer to a germline DICER1 mutation. The Journal of Clinical Endocrinology & Metabolism, 99 (6). pp. 1947-1948.

Bellgard, M.I., Sleeman, M.W., Guerrero, F.D., Fletcher, S., Baynam, G., Goldblatt, J., Rubinstein, Y., Bell, C., Groft, S., Barrero, R., Bittles, A.H., Wilton, S.D., Mason, C.E. and Weeramanthri, T. (2014) Rare disease research roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes. Health Policy and Technology, 3 (4). pp. 325-335.

Bellgard, M., Beroud, C., Parkinson, K., Harris, T., Ayme, S., Baynam, G., Weeramanthri, T., Dawkins, H. and Hunter, A. (2013) Dispelling myths about rare disease registry system development. Source Code for Biology and Medicine, 8 (1). p. 21.

Baynam, G.S., Walters, M., Dawkins, H., Bellgard, M., Halbert, A.R. and Claes, P. (2013) Objective monitoring of mTOR inhibitor therapy by Three-Dimensional facial analysis. Twin Research and Human Genetics, 16 (4). pp. 840-844.

Ham, S., Meachem, S.J., Choong, C.S., Charles, A.K., Baynam, G.S., Jones, T.W., Samarajeewa, N.U., Simpson, E.R. and Brown, K.A. (2013) Overexpression of aromatase associated with loss of heterozygosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers Syndrome. Journal of Clinical Endocrinology & Metabolism, 98 (12). E1979-E1987.

Tatton-Brown, K., Murray, A., Hanks, S., Douglas, J., Armstrong, R., Banka, S., Bird, L.M., Clericuzio, C.L., Cormier-Daire, V., Cushing, T., Flinter, F., Jacquemont, M-L, Joss, S., Kinning, E., Lynch, S.A., Magee, A., McConnell, V., Medeira, A., Ozono, K., Patton, M., Rankin, J., Shears, D., Simon, M., Splitt, M., Strenger, V., Stuurman, K., Taylor, C., Titheradge, H., Van Maldergem, L., Temple, I.K., Cole, T., Seal, S., Rahman, N. and Baynam, G. (2013) Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. American Journal of Medical Genetics: Part A, 161 (12). pp. 2972-2980.

Baynam, G.S., González, C. and Temtamy, S.A. (2013) A boy with hand anomalies similar to those documented with prenatal misoprostol exposure. Middle East Journal of Medical Genetics, 2 (2). pp. 58-62.

Baynam, G., Walters, M., Claes, P. and Le Souef, P. (2012) 3D facial analysis can investigate vaccine responses. Medical Hypotheses, 78 (4). pp. 497-501.

Longoni, M., Lage, K., Russell, M.K., Loscertales, M., Abdul-Rahman, O.A., Baynam, G., Bleyl, S.B., Brady, P.D., Breckpot, J., Chen, C.P., Devriendt, K., Gillessen-Kaesbach, G., Grix, A.W., Rope, A.F., Shimokawa, O., Strauss, B., Wieczorek, D., Zackai, E.H., Coletti, C.M., Maalouf, F.I., Noonan, K.M., Park, J.H., Tracy, A.A., Lee, C., Donahoe, P.K. and Pober, B.R. (2012) Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. American Journal of Medical Genetics Part A, 158A (12). pp. 3148-3158.

Baynam, G., Walters, M., Claes, P., Kung, S., LeSouef, P., Dawkins, H., Gillett, D. and Goldblatt, J. (2012) The Facial Evolution: Looking backward and moving forward. Human Mutation, 34 (1). pp. 14-22.

Furuichi, T., Dai, J., Cho, T-J, Sakazume, S., Ikema, M., Matsui, Y., Baynam, G., Nagai, T., Miyake, N., Matsumoto, N., Ohashi, H., Unger, S., Superti-Furga, A., Kim, O-H, Nishimura, G. and Ikegawa, S. (2011) CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. Journal of Medical Genetics, 48 (1). pp. 32-37.

Jenkins, D., Baynam, G., De Catte, L., Elcioglu, N., Gabbett, M.T., Hudgins, L., Hurst, J.A., Jehee, F.S., Oley, C. and Wilkie, A.O.M. (2011) Carpenter syndrome: Extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Human Mutation, 32 (4). E2069-E2078.

Foulkes, W.D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C.S., Charles, A., Frieder, R.P., Dishop, M.K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R.H., Sabbaghian, N., Srivastava, A., Tischkowitz, M.D. and Priest, J.R. (2011) Extending the phenotypes associated with DICER1 mutations. Human Mutation, 32 (12). pp. 1381-1384.

Ravenscroft, G., Sollis, E., Charles, A.K., North, K.N., Baynam, G. and Laing, N.G. (2011) Fetal akinesia: review of the genetics of the neuromuscular causes. Journal of Medical Genetics, 48 (12). pp. 793-801.

Baynam, G., Claes, P., Craig, J.M., Goldblatt, J., Kung, S., Le Souef, P. and Walters, M. (2011) Intersections of epigenetics, twinning and developmental asymmetries: Insights into monogenic and complex diseases and a role for 3D facial analysis. Twin Research and Human Genetics, 14 (4). pp. 305-315.

Fullston, T., Finnis, M., Hackett, A., Hodgson, B., Brueton, L., Baynam, G., Norman, A., Reish, O., Shoubridge, C. and Gecz, J. (2011) Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. Clinical Genetics, 80 (6). pp. 510-522.

Baynam, G.S. and Goldblatt, J. (2010) A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: Novel associations and possible Gene–Environment interactions. Twin Research and Human Genetics, 13 (4). pp. 297-300.

Candelaria, P.V., Backer, V., Khoo, S-K, Bizzintino, J.A., Hayden, C.M., Baynam, G., Laing, I.A., Zhang, G., Porsbjerg, C., Goldblatt, J. and Le Souëf, P.N. (2010) The importance of environment on respiratory genotype/phenotype relationships in the Inuit. Allergy, 65 (2). pp. 229-237.

Baynam, G., Kiraly-Borri, C., Goldblatt, J., Dickinson, J.E., Jevon, G.P. and Overkov, A. (2010) A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign. American Journal of Medical Genetics: Part A, 152A (4). pp. 966-969.

Baynam, G. and Goldblatt, J. (2009) 45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: A report and a discussion of their interrelationships. Journal of Maxillofacial and Oral Surgery, 8 (3). pp. 279-282.

Baynam, G., Goldblatt, J. and Schofield, L. (2009) Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. American Journal of Medical Genetics Part A, 149A (6). pp. 1331-1333.

Baynam, G., Goldblatt, J. and Walpole, I. (2008) Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome. American Journal of Medical Genetics Part A, 146A (12). pp. 1565-1570.

Baynam, G., Zhang, G., Khoo, S-K, Sly, P., Holt, P., Goldblatt, J. and Le Souëf, P.N. (2008) Gender-specific effects of cytokine gene polymorphisms on childhood vaccine responses. Vaccine, 26 (29-30). pp. 3574-3579.

Ahvenainen, T., Lehtonen, H.J., Lehtonen, R., Vahteristo, P., Aittomäki, K., Baynam, G., Dommering, C., Eng, C., Gruber, S.B., Grönberg, H., Harvima, R., Herva, R., Hietala, M., Kujala, M., Kääriäinen, H., Sunde, L., Vierimaa, O., Pollard, P.J., Tomlinson, I.P.M., Björck, E., Aaltonen, L.A. and Launonen, V. (2008) Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: Detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Cancer Genetics and Cytogenetics, 183 (2). pp. 83-88.

Baynam, G., Smith, N. and Goldblatt, J. (2008) A c.1019A > G mutation inFGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. American Journal of Medical Genetics Part A, 146A (17). pp. 2301-2303.

Wiertsema, S.P., Baynam, G., Khoo, S-K, Veenhoven, R.H., van Heerbeek, N., Zhang, G., Laing, I.A., Rijkers, G.T., Goldblatt, J., Sanders, E.A.M. and Le Souëf, P.N. (2007) Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response. Vaccine, 25 (2). pp. 306-313.

Wiertsema, S.P., Khoo, S-K, Baynam, G., Veenhoven, R.H., Laing, I.A., Zielhuis, G.A., Rijkers, G.T., Goldblatt, J., LeSouef, P.N. and Sanders, E.A.M. (2006) Association of CD14 promoter polymorphism with Otitis media and pneumococcal vaccine responses. Clinical and Vaccine Immunology, 13 (8). pp. 892-897.

Khoo, S.K., Zhang, G., Backer, V., Porsbjerg, C., Nepper-Christensen, S., Creegan, R., Baynam, G., de Klerk, N., Rossi, G. and Hagel, I. (2006) Associations of a novel IL4RA polymorphism, Ala57Thr, in Greenlander Inuit. Journal of Allergy and Clinical Immunology, 118 (3). pp. 627-634.

Baynam, G., Goldblatt, J. and Townshend, S. (2006) A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions. Clinical Dysmorphology, 15 (3). pp. 145-148.

Conference Paper

Bellgard, M., Render, L., McCooke, J.K., Black, M., Baynam, G., Dawkins, H., Moolhuijzen, P., Barrero, R.A. and Hunter, A. (2014) Towards integrating NGS workflows into disease registries. In: Plant & Animal Genome Asia 2014, 19 - 21 May 2014, Grand Copthorne Waterfront Hotel, Singapore

Conference Item

Bellgard, M., Render, L., McCooke, J.K., Black, M.L., Baynam, G., Dawkins, H., Barrero, R., Moolhuijzen, P., Szabo, T. and Hunter, A. (2014) Towards integrating NGS workflows within disease registries. In: Joint RD-Connect / EURenOmics / Neuromics meeting 2014, 23 - 26 February 2014, Heidelberg, Germany.

Book Chapter

Baynam, G., Bowman, F., Lister, K., Walker, C.E., Pachter, N., Goldblatt, J., Boycott, K.M., Gahl, W.A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P.N., Haendel, M., Brudno, M., Mattick, J.S., Dinger, M.E., Roscioli, T., Cowley, M.J., Olry, A., Hanauer, M., Alkuraya, F.S., Taruscio, D., Posada de la Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N.G., Julkowska, D., Le Cam, Y., Terry, S.F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S.C., Austin, C.P., Draghia-Akli, R., Weeramanthri, T.S., Molster, C. and Dawkins, H.J.S. (2017) Improved diagnosis and care for rare diseases through implementation of precision public health framework. In: de la Paz, M.P., Taruscio, D. and Groft, S.C., (eds.) Rare Diseases Epidemiology: Update and Overview. Springer, pp. 55-94.

Baynam, G., Molster, C., Bauskis, A., Kowal, E., Savarirayan, R., Kelaher, M., Easteal, S., Massey, L., Garvey, G., Goldblatt, J., Pachter, N., Weeramanthri, T.S. and Dawkins, H.J.S. (2017) Indigenous genetics and rare diseases: Harmony, diversity and equity. In: de la Paz, M.P., Taruscio, D. and Groft, S.C., (eds.) Rare Diseases Epidemiology: Update and Overview. Springer, pp. 511-520.

Kung, S., Walters, M., Claes, P., Goldblatt, J., Le Souef, P. and Baynam, G. (2012) A dysmorphometric analysis to investigate facial phenotypic signatures as a foundation for Non-invasive monitoring of Lysosomal storage disorders. In: Zschocke, J., Gibson, K.M., Brown, G., Morava, E. and Peters, V., (eds.) JIMD Reports - Case and Research Reports. Springer Berlin Heidelberg, pp. 31-39.

Liu, J. and Baynam, G. (2010) Cornelia de Lange Syndrome. In: Ahmad, S.I., (ed.) Diseases of DNA Repair. Springer New York, pp. 113-123.

This list was generated on Sat May 25 17:16:31 2019 UTC.