Gareth Baynam

Dr

  • The University of Western Australia (M561), 35 Stirling Highway,

    6009 Perth

    Australia

  • 1450 Citations
  • 21 h-Index
20062021
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Research Output 2006 2019

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Article
2019
3 Citations (Scopus)

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

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. & 2 othersMcKenzie, F. & Heng, J. I. T., Feb 2019, In : Molecular genetics & genomic medicine. 7, 2, 17 p., 507.

Research output: Contribution to journalArticle

Open Access

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Minerva Consortium, 29 Jul 2019, In : Frontiers in Genetics. 10, 9 p., 611.

Research output: Contribution to journalArticle

Open Access
29 Citations (Scopus)

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Koehler, 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. & 49 othersJansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yueksel, 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., Gomez-Andres, D., Lochmueller, 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. & Robinson, P. N., 8 Jan 2019, In : Nucleic Acids Research. 47, D1, p. D1018-D1027 10 p.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

Yu, X., Nassar, N., Mastroiacovo, P., Canfield, M., Groisman, B., Bermejo-Sánchez, E., Ritvanen, A., Kiuru-Kuhlefelt, S., Benavides, A., Sipek, A., Pierini, A., Bianchi, F., Källén, K., Gatt, M., Morgan, M., Tucker, D., Canessa, M. A., Gajardo, R., Mutchinick, O. M., Szabova, E. & 24 othersCsáky-Szunyogh, M., Tagliabue, G., Cragan, J. D., Nembhard, W. N., Rissmann, A., Goetz, D., Bower, C., Baynam, G., Lowry, R. B., Leon, J. A., Luo, W., Rouleau, J., Zarante, I., Fernandez, N., Amar, E., Dastgiri, S., Contiero, P., Martínez-de-Villarreal, L. E., Borman, B., Bergman, J. E. H., de Walle, H. E. K., Hobbs, C. A., Nance, A. E. & Agopian, A. J., 9 Jul 2019, In : European Urology.

Research output: Contribution to journalArticle

Hypospadias

Personalised analytics for rare disease diagnostics

Anderson, D., Baynam, G., Blackwell, J. M. & Lassmann, T., 1 Dec 2019, In : Nature Communications. 10, 1, 5274.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
phenotype
gene expression
Tissue
Phenotype
2018
1 Citation (Scopus)

A review of structural brain abnormalities in Pallister-Killian syndrome

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. & Heng, J. I-T., Jan 2018, In : Molecular genetics & genomic medicine. 6, 1, p. 92-98 7 p.

Research output: Contribution to journalArticle

Open Access
Open Access
7 Citations (Scopus)

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

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. & 16 othersSavarirayan, 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. & Wuyts, W., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1246-1261 16 p.

Research output: Contribution to journalArticle

Open Access
Ectodermal Dysplasia
Extremities
Mutation
Molecular Pathology
Genetic Testing
2 Citations (Scopus)

Intellectual disability in children conceived using assisted reproductive technology

Hansen, M., Greenop, K. R., Bourke, J., Baynam, G., Hart, R. J. & Leonard, H., 1 Dec 2018, In : Pediatrics. 142, 6, e20181269.

Research output: Contribution to journalArticle

Assisted Reproductive Techniques
Intellectual Disability
Reproductive Techniques
Intracytoplasmic Sperm Injections
Western Australia
15 Citations (Scopus)

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

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. & 10 othersBaynam, G., Hamilton-Shield, J. P., Aljareh, S., Lokulo-Sodipe, O., Horton, R., Siebert, R., Elbracht, M., Temple, I. K., Eggermann, T. & Mackay, D. J. G., 1 Jul 2018, In : Journal of Medical Genetics. 55, 7, p. 497-504 8 p.

Research output: Contribution to journalArticle

Open Access
Mothers
Proteins
Exome
Pedigree
Epigenomics
2 Citations (Scopus)

Silver Russel syndrome in an aboriginal patient from Australia

Poulton, C., Azmanov, D., Atkinson, V., Beilby, J., Ewans, L., Gration, D., Dreyer, L., Shetty, V., Peake, C., McCormack, E., Palmer, R., Lewis, B., Dawkins, H., Broley, S. & Baynam, G., 1 Dec 2018, In : American Journal of Medical Genetics, Part A. 176, 12, p. 2561-2563 3 p.

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Genetic Databases
Knowledge Bases
Fetal Growth Retardation
Computer Simulation
2017
5 Citations (Scopus)

3-Dimensional facial analysis-facing precision public health

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. & Molster, C. M., 10 Apr 2017, In : Frontiers in Public Health. 5, 31.

Research output: Contribution to journalArticle

Open Access
Public Health
Public Health Practice
Technology
Phenotype
United States Public Health Service
8 Citations (Scopus)

Genotype and phenotype spectrum of NRAS germline variants

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. & 6 othersGarcía-Miñaúr, S., Plaza, D., Ahmadian, M. R., Cavé, H., Tartaglia, M. & Zenker, M., 1 Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 823-831 9 p.

Research output: Contribution to journalArticle

Genotype
Noonan Syndrome
Phenotype
Neoplasms
Costello Syndrome
10 Citations (Scopus)

Initiating an undiagnosed diseases program in the Western Australian public health system

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. & 23 othersPoulton, 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. & Goldblatt, J., 3 May 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 83.

Research output: Contribution to journalArticle

Open Access
Western Australia
Public Health
Inborn Genetic Diseases
Translational Medical Research
Medical Staff
21 Citations (Scopus)

'IRDiRC Recognized Resources': A new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

Lochmüller, H., Le Cam, Y., Jonker, A. H., Lau, L. P., Baynam, G., Kaufmann, P., Lasko, P., Dawkins, H. J., Austin, C. P. & Boycott, K. M., 1 Feb 2017, In : European Journal of Human Genetics. 25, 2, p. 162-165 4 p.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Research
Guidelines
Information Dissemination
Registries
8 Citations (Scopus)

Outcomes of an international workshop on preconception expanded carrier screening: Some considerations for governments

Molster, C. M., Lister, K., Metternick-Jones, S., Baynam, G., Clarke, A. J., Straub, V., Dawkins, H. J. S. & Laing, N., 24 Feb 2017, In : Frontiers in Public Health. 5, FEB, 25.

Research output: Contribution to journalArticle

Open Access
Education
Decision Making
Population Control
Health Services Needs and Demand
Medical Genetics
7 Citations (Scopus)
121 Downloads (Pure)

Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015

Hansen, M., Armstrong, P. K., Bower, C. & Baynam, G. S., 1 May 2017, In : The Medical journal of Australia. 206, 8, p. 351-356 6 p.

Research output: Contribution to journalArticle

Open Access
File
17 Citations (Scopus)

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

Walker, C. E., Mahede, T., Davis, G., Miller, L. J., Girschik, J., Brameld, K., Sun, W., Rath, A., Aymé, S., Zubrick, S. R., Baynam, G. S., Molster, C., Dawkins, H. & Weeramanthri, T. S., May 2017, In : Genetics in Medicine. 19, 5, p. 546-552 7 p.

Research output: Contribution to journalArticle

Open Access
Western Australia
Rare Diseases
Hospital Costs
Population
Viverridae
12 Citations (Scopus)

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

Lochmüller, H., TorrentFarnell, J., Le Cam, Y., Jonker, A. H., Lau, L. P., Baynam, G., Kaufmann, P., Dawkins, H. J. S., Lasko, P., Austin, C. P. & Boycott, K. M., 1 Dec 2017, In : European Journal of Human Genetics. 25, 12, p. 1293-1302 10 p.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Guidelines
Research
Information Dissemination
Organizations
4 Citations (Scopus)

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

Au, P. Y. B., Huang, L., Broley, S., Gallagher, L., Creede, E., Lahey, D., Ordorica, S., Mina, K., Boycott, K. M., Baynam, G. & Dyment, D. A., Jul 2017, In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
Polydactyly
X Chromosome
Tooth Abnormalities
2016
84 Citations (Scopus)

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Simeoni, I., Stephens, J. C. C., Hu, F., Deevi, S. V. V. V. V., Megy, K., Bariana, T. K. K., Lentaigne, C., Schulman, S., Sivapalaratnam, S., Vries, M. J. A. J. A., Westbury, S. K. K., Greene, D., Papadia, S., Alessi, M-C. C., Attwood, A. P. P., Ballmier, M., Baynam, G. S., Bermejo, E., Bertoli, M., Bray, P. F. F. & 59 othersBury, L., Cattaneo, M., Collins, P., Daugherty, L. C. C., Favier, R., French, D. L. L., Furie, B., Gattens, M., Germeshausen, M., Ghevaert, C., Goodeve, A. C. C., Guerrero, J. A. A., Hampshire, D. J. J., Hart, D. P. P., Heemskerk, J. W. M. W. M., Henskens, Y. M. C. M. C., Hill, M., Hogg, N., Jolley, J. D. D., Kahr, W. H. H., Kelly, A. M. M., Kerr, R., Kostadima, M., Kunishima, S., Lambert, M. P. P., Liesner, R., Lopez, J. A. A., Mapeta, R. P. P., Mathias, M., Millar, C. M. M., Nathwani, A., Neerman-Arbex, M., Nurdin, A. T. T., Nurden, P., Othman, M., Peerlinck, K., Perry, D. J. J., Poudel, P., Reitsma, P., Rondina, M. T. T., Smethurst, P. A. A., Stevenson, W., Szkotak, A., Tuna, S., van Geet, C., Whitehorn, D., Wilcox, D. A. A., Zhang, B., Revel-Vilk, S., Gresele, P., Bellissimo, D. B. B., Penkett, C. J. J., Laffan, M. A. A., Mumford, A. D. D., Rendon, A., Gomez, K., Freson, K., Ouwehand, W. H. H. & Turro, E., 2016, In : Blood. 127, 23, p. 14 14 p.

Research output: Contribution to journalArticle

Platelets
Blood Platelets
Throughput
Hemorrhage
von Willebrand Diseases
39 Citations (Scopus)

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

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. & 21 othersLacombe, 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. & Wollnik, B., 2016, In : Human Mutation. 37, 9, p. 847-864

Research output: Contribution to journalArticle

Mutation
Genes
Noonan Syndrome
Kabuki syndrome
Genetic Testing
22 Citations (Scopus)

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

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. E., Molster, C., Blackwell, J. M., Jamieson, S., Tang, D., Lassmann, T., Mina, K., Beilby, J., Davis, M. & 5 othersLaing, N., Murphy, L., Weeramanthri, T., Dawkins, H. & Goldblatt, J., 2016, In : Orphanet Journal of Rare Diseases. 11, 7 p., 77.

Research output: Contribution to journalArticle

Genetic Services
Diagnostic Services
High-Throughput Nucleotide Sequencing
Rare Diseases
Western Australia
103 Citations (Scopus)
161 Downloads (Pure)

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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., Bieneck, M., Jensen, C., Hambrock, M., Fishcer, U., Langnick, C., Feldkamp, M. & 64 othersWissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. 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'Keefe, S., Chenna, R., Van Bommel, A., Goke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Muller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielesnka, A., Ousager, L. B., Wieacker, P., Rodriguez Criago, G., Bonderson, M. L., Anneren, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Buoy, 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., Kalscheuer, V. M. & Gardner, A., Jan 2016, In : Molecular Psychiatry. 21, 1, p. 133-148 16 p.

Research output: Contribution to journalArticle

Open Access
File
Exome
Intellectual Disability
Genes
X Chromosome
High-Throughput Nucleotide Sequencing
2015
20 Citations (Scopus)

A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, H. & Goldblatt, J., 2015, In : American Journal of Medical Genetics, Part A. 167, 7, p. 1659-1667

Research output: Contribution to journalArticle

Megalencephaly
Germ-Line Mutation
Intellectual Disability
Costello Syndrome
Thorax
11 Citations (Scopus)

Monitoring of therapy for mucopolysaccharidosis type I using dysmorphometric facial phenotypic signatures

Kung, S., Walters, M., Claes, P., Lesouef, P., Goldblatt, J., Martin, A., Balasubramaniam, S. & Baynam, G., 2015, In : Journal of Inherited Metabolic Disease. 22, p. 99-106

Research output: Contribution to journalArticle

90 Citations (Scopus)

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

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. & 25 othersEvers, 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. & Loeys, B. L., 2015, In : Journal of the American College of Cardiology. 65, 13, p. 1324-1336

Research output: Contribution to journalArticle

Open Access
Transforming Growth Factor beta3
Aortic Aneurysm
Transforming Growth Factors
Thoracic Aortic Aneurysm
Dissection
4 Citations (Scopus)

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome

Abraham, M. B., Carpenter, K., Baynam, G., Mackay, D. J. G., Price, G. & Choong, C., 2015, In : Journal of Paediatrics and Child Health. 51, 5, p. 555-560

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Locus Control Region
Multiplex Polymerase Chain Reaction
Amenorrhea
PubMed
89 Citations (Scopus)

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

Groza, T., Köhler, 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. & Robinson, P. N., 2 Jul 2015, In : American Journal of Human Genetics. 97, 1, p. 111-124 14 p.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Semantics
Phenotype
Translational Medical Research
PubMed
2014

Current trends in biobanking for rare diseases: a review

Graham, C. E., Molster, C., Baynam, G., Bushby, K., Hansson, M., Kole, A., Mora, M., Monaco, L., Bellgard, M., Carpentieri, D., Posada, M., Riess, O., Rubinstein, Y. R., Schaefer, F., Taruscio, D., Terry, S. F., Zatloukal, K., Knoppers, B., Lochmuller, H. & Dawkins, H., 2014, In : Journal of Biorepository Science for Applied Medicine. 2, p. 49-61

Research output: Contribution to journalArticle

Open Access
93 Citations (Scopus)

Modeling 3D Facial Shape from DNA

Claes, P., Liberton, D. K., Daniels, K., Rosana, K. M., Quillen, E. E., Pearson, L. N., Mcevoy, B. P., Bauchet, M., Zaidi, A. A., Yao, W., Tang, H., Barsh, G. S., Absher, D. M., Puts, D. A., Rocha, J. L., Beleza, S. S., Pereira, R. W., Baynam, G., Suetens, P. L., Vandermeulen, D. & 3 othersWagner, J. K., Boster, J. S. & Shriver, M. D., 2014, In : PLoS Genetics. 10, 3

Research output: Contribution to journalArticle

Open Access
ancestry
DNA
genomics
gender
modeling
7 Citations (Scopus)

Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

Bellgard, M. I., Sleeman, M. W., Guerrero, F. D., Fletcher, S., Baynam, G., Goldblatt, J., Rubinstein, Y. R., Bell, C., Groft, S. C., Barrero, R., Bittles, A. H., Wilton, S., Mason, C. E. & Weeramanthri, T. S., 2014, In : Health Policy And Technology. 3, 4, p. 325-335

Research output: Contribution to journalArticle

Bioinformatics
Rare Diseases
Computational Biology
Health
Research
13 Citations (Scopus)

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

Lazarus, S., Mcinerney-Leo, A. M., Mckenzie, F., Baynam, G., Broley, S., Cavan, B. V., Munns, C. F. J., Pruijs, J. E. H., Sillence, D. O., Terhal, P. A., Pryce, K., Brown, M. A., Zankl, A., Thomas, G. P. & Duncan, E. L., 27 Mar 2014, In : BMC Musculoskeletal Disorders. 15, 1, p. 6pp

Research output: Contribution to journalArticle

Open Access
Bone and Bones
Mutation
5' Untranslated Regions
RNA
Initiator Codon
2013
28 Citations (Scopus)

Dispelling myths about rare disease registry system development

Bellgard, M., Beroud, C., Parkinson, K., Harris, T., Aymé, S., Baynam, G., Weeramanthri, T., Dawkins, H. & Hunter, A., 2013, In : Source Code For Biology And Medicine. 8, 21, p. 7pp

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Registries
System development
Registry
Privacy
10 Citations (Scopus)

Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis

Baynam, G., Walters, M., Dawkins, H., Bellgard, M., Halbert, A. R. & Claes, P., 2013, In : Twin Research and Human Genetics. 16, 4, p. 840-844

Research output: Contribution to journalArticle

19 Citations (Scopus)
388 Downloads (Pure)

Overexpression of aromatase associated with loss of heterozygosity of the STK11 gene accounts for pepubertal gynecomastia in boys with Peutz-Jeghers Syndrome

Ham, S., Meachem, S. J., Choong, C., Charles, A., Baynam, G., Jones, T., Samarjeewa, N. U., Simpson, E. R. & Brown, K. A., Dec 2013, In : Journal of Clinical Endocrinology & Metabolism. 98, 12, p. E1979-E1987

Research output: Contribution to journalArticle

Open Access
File
Peutz-Jeghers Syndrome
Gynecomastia
Aromatase
Loss of Heterozygosity
Genes
17 Citations (Scopus)

The Facial Evolution: Looking Backward and Moving Forward

Baynam, G., Walters, M., Claes, P., Kung, S., Le Souef, P., Dawkins, H., Gillett, D. & Goldblatt, J., 2013, In : Human Mutation. 34, 1, p. 14-22

Research output: Contribution to journalArticle

2012
3 Citations (Scopus)

3D facial analysis can investigate vaccine responses

Baynam, G., Walters, M., Claes, P. & Le Souef, P., 2012, In : Medical Hypotheses. 78, p. 497-501

Research output: Contribution to journalArticle

5 Citations (Scopus)

A dysmorphometric analysis to investigate facial phenotypic signatures as a foundation for non-invasive monitoring of lysosomal storage disorders

Kung, S., Walters, M., Claes, P., Goldblatt, J., Le Souef, P. & Baynam, G., 2012, In : Journal of Inherited Metabolic Disease. 2012, 5, p. 31-39 9 p.

Research output: Contribution to journalArticle

Phenotype
Cheek
Masks
Nose
Disease Progression
24 Citations (Scopus)

Congenital diaphragmatic hernia interval on Chromosone 8p23.1 characterized by genetics and protein interaction networks

Longoni, M., Lage, K., Russell, M., 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. & 6 othersNoonan, K. M., Park, J. H., Tracy, A. A., Lee, C., Donahoe, P. K. & Pober, B. R., 2012, In : American Journal of Medical Genetics Part A. 158A, 12, p. 3148-3158

Research output: Contribution to journalArticle

2011
25 Citations (Scopus)

Carpenter Syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Jenkins, D., Baynam, G., De Catte, L., Elcioglu, N., Gabbett, M. T., Hudgins, L., Hurst, J. A., Jehee, F. S., Oley, C. & Wilkie, A. O., 2011, In : Human Mutation. 32, 4, p. 2069-2078

Research output: Contribution to journalArticle

104 Citations (Scopus)

Extending the phenotypes associated with DICER1 mutations

Foulkes, W. D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C., Charles, A., Frieder, R., Dishop, M., Graf, N., Ekim, M., Soglio, D. B-D., Arseneau, J., Young, R. H., Sabbaghian, N., Srivastava, A., Tischkowitz, M. D. & Priest, J. R., 2011, In : Human Mutation. 32, 12, p. 1381-1384

Research output: Contribution to journalArticle

40 Citations (Scopus)

Fetal akinesia: review of the genetics of the neuromuscular causes

Ravenscroft, G., Sollis, E., Charles, A. K., North, K. A., Baynam, G. & Laing, N., 2011, In : Journal of Medical Genetics. 48, p. 793-801

Research output: Contribution to journalArticle

11 Citations (Scopus)

Intersections of epigenetics, twinning and developmental asymmetries: insights into monogenic and complex diseases and a role for 3D facial analysis

Baynam, G., Claes, P., Craig, J. M., Goldblatt, J., Kung, S., Le Souef, P. & Walters, M., 2011, In : Twin Research and Human Genetics. 14, 4, p. 305-315

Research output: Contribution to journalArticle

17 Citations (Scopus)

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

Fullston, T., Finnis, M., Hackett, A., Hodgson, B., Brueton, L., Baynam, G., Norman, A., Reish, O., Shoubridge, C. & Gecz, J., 2011, In : Clinical Genetics. 80, p. 510-522

Research output: Contribution to journalArticle

2010
23 Citations (Scopus)

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

Furuichi, T., Dai, J., Cho, T., Sakazume, S., Ikema, M., Matsui, Y., Baynam, G., Nagai, T., Miyake, N., Matsumo, N., Ohashi, H., Unger, S., Superti-Furga, A., Kim, O., Nishimura, G. & Ikegawa, S., 2010, In : Journal of Medical Genetics. 48, 1, p. 32-37

Research output: Contribution to journalArticle

5 Citations (Scopus)

The importance of environment on respiratory genotype/phenotype relationships in the Inuit

Candelaria, P., Baker, V., Khoo, S-K., Bizzintino, J. A., Hayden, C., Baynam, G. S., Laing, I., Zhang, G., Porsbjerg, C., Goldblatt, J., Le Souef, P., Backer, V., Khoo, S. & Baynam, G., 2010, In : Allergy. 65, 2, p. 229-237

Research output: Contribution to journalArticle

2008
19 Citations (Scopus)

Gender-specific effects of cytokine gene polymorphisms on childhood vaccine responses

Baynam, G., Zhang, G., Khoo, S-K., Sly, P., Holt, P., Goldblatt, J. & Le Souef, P., 2008, In : Vaccine. 26, 29-30, p. 3574-3579

Research output: Contribution to journalArticle

Tetanus Toxoid
toxoids
childhood
cytokines
Vaccines
24 Citations (Scopus)

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification : detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

Ahvenainen, T., Lehtonen, H., Lehtonen, R., Vahteristo, P., Aittomaki, K., Baynam, G., Dommering, C., Eng, C., Gruber, S. B., Gronberg, H., Harvima, R., Herva, R., Hietala, M., Kujala, M., Kaariainen, H., Sunde, L., Vierimaa, O., Pollard, P. J., Tomlinson, I. P. M., Bjorck, E. & 2 othersAaltonen, L. & Launonen, V., 2008, In : Cancer Genetics and Cytogenetics. 183, 2, p. 83-88

Research output: Contribution to journalArticle

Fumarate Hydratase
Leiomyomatosis
Multiplex Polymerase Chain Reaction
Renal Cell Carcinoma
Mutation
2007
28 Citations (Scopus)

Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response

Wiertsema, S., Baynam, G. S., Khoo, S-K., Veenhoven, R. H., Van Heerbeek, N., Zhang, G., Laing, I., Rijkers, G. T., Goldblatt, J., Sanders, E. A. M. & Le Souef, P., 2007, In : Vaccine. 25, 2, p. 306-313

Research output: Contribution to journalArticle

Interleukin-13
interleukin-4
Interleukin-4
Antibody Formation
Anti-Idiotypic Antibodies