Gareth Baynam

Dr

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

    6009 Perth

    Australia

  • 1460 Citations
  • 21 h-Index
20062021
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Research Output 2006 2019

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
2 Citations (Scopus)

Genomic testing for human health and disease across the life cycle: Applications and ethical, legal, and social challenges

Bilkey, G. A., Burns, B. L., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., S. Dawkins, H. J., Nowak, K. J. & Weeramanthri, T. S., 11 Mar 2019, In : Frontiers in Public Health. 7, MAR, 40.

Research output: Contribution to journalReview article

Open Access
Life Cycle Stages
Delivery of Health Care
Health
Technology
Informed Consent
2 Citations (Scopus)

Healthcare system priorities for successful integration of genomics: An Australian focus

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. & Nowak, K. J., 11 Mar 2019, In : Frontiers in Public Health. 7, 41.

Research output: Contribution to journalReview article

Open Access
Genomics
Technology
Delivery of Health Care
Health Policy
Lenses
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
1 Citation (Scopus)

Optimizing precision medicine for public health

Bilkey, G. A., Burns, B. L., Coles, E. P., Mahede, T., Baynam, G. & Nowak, K. J., 7 Mar 2019, In : Frontiers in Public Health. 7, MAR, 42.

Research output: Contribution to journalReview article

Open Access
Precision Medicine
Public Health
Delivery of Health Care
Decision Making
Policy Making

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

Public Health Genomics

Lacaze, P. & Baynam, G., 6 Jun 2019, In : Frontiers in Public Health. 7, 2 p., 142.

Research output: Contribution to journalEditorial

Open Access

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

Poulton, C., Pathak, G., Mina, K., Lassman, T., Azmanov, D. N., McCormack, E., Broley, S., Dreyer, L., Gration, D., Taylor, E., OSullivan, M., Siafarikis, A., Ravikumara, M., Dawkins, H., Pachter, N. & Baynam, G., 30 May 2019, In : Gene. 699, p. 110-114 5 p.

Research output: Contribution to journalReview article

Diarrhea
Liver
Exosome Multienzyme Ribonuclease Complex
Genetic Databases
Delayed Diagnosis
2018
6 Citations (Scopus)

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

Kamien, B., Ronan, A., Poke, G., Sinnerbrink, I., Baynam, G., Ward, M., Gibson, W. T., Dudding-Byth, T. & Scott, R. J., 2018, In : Molecular Syndromology. 9, 2, p. 70-82

Research output: Contribution to journalReview article

High-Throughput Nucleotide Sequencing
Genetic Counseling
Genes
Phenotype
Neoplasms
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
6 Citations (Scopus)

Cerebral palsy and genomics: an international consortium

On behalf of the members of the International Cerebral Palsy Genomics Consortium, 1 Feb 2018, In : Developmental Medicine and Child Neurology. 60, 2, p. 209-210 2 p.

Research output: Contribution to journalLetter

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
36 Citations (Scopus)
105 Downloads (Pure)

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

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. & 3 othersWang, L., Dawkins, H. J. S. & on behalf of the International Rare Diseases Research Consortium (IRDiRC), 1 Jan 2018, In : Clinical and Translational Science. 11, 1, p. 21-27 7 p.

Research output: Contribution to journalReview article

Open Access
File
5 Citations (Scopus)

Incidental inequity

Nowak, K. J., Bauskis, A., Dawkins, H. J. & Baynam, G., 1 May 2018, In : European Journal of Human Genetics. 26, 5, p. 616-617 2 p.

Research output: Contribution to journalLetter

Open Access
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
16 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
9 Citations (Scopus)

Plain-language medical vocabulary for precision diagnosis

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. & 13 othersGroza, T., Adams, D., Resnick, A. C., Heath, A. P., Mungall, C., Holm, I. A., Rageth, K., Brownstein, C. A., Shefchek, K., McMurry, J. A., Robinson, P. N., Köhler, S. & Haendel, M. A., 1 Apr 2018, In : Nature Genetics. 50, 4, p. 474-476 3 p.

Research output: Contribution to journalLetter

Open Access
20 Citations (Scopus)

Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

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., Austin, C. P. & International Rare Diseases Research Consortium (IRDiRC), 1 Jan 2018, In : Clinical and Translational Science. 11, 1, p. 11-20 10 p.

Research output: Contribution to journalReview article

Open Access
3 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
7 Citations (Scopus)

Improved diagnosis and care for rare diseases through implementation of precision public health framework

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. & 39 othersVerhoef, 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. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paperChapter

Public health
Rare Diseases
Public Health
Health Policy
Health
2 Citations (Scopus)

Indigenous genetics and rare diseases: Harmony, diversity and equity

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. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 511-520 10 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paperChapter

Inborn Genetic Diseases
Rare Diseases
Genetic Services
Translational Medical Research
Public health
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
85 Citations (Scopus)

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., Dyke, S. O. M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S. C., Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M. E. & 20 othersKaufmann, P., Knoppers, B. M., Krischer, J. P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A. A., Rehm, H. L., Robinson, P. N., Sham, P. C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M. R., Zhang, H. F., Brunner, H. G., Bamshad, M. J. & Lochmüller, H., 4 May 2017, In : American Journal of Human Genetics. 100, 5, p. 695-705 11 p.

Research output: Contribution to journalComment/debate

Open Access
International Cooperation
Inborn Genetic Diseases
Rare Diseases
Genetic Association Studies
Research
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

New Opportunities for Evidence in Fetal Alcohol Spectrum Disorder

Bower, C. & Baynam, G., Aug 2017, In : JAMA Pediatrics. 171, 8, p. 731-732 3 p.

Research output: Contribution to journalEditorial

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
18 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
14 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
2 Citations (Scopus)

Translating aboriginal genomics — four letters closing the gap

Baynam, G. S., Pearson, G. & Blackwell, J., 17 Oct 2016, In : Medical Journal of Australia. 205, 8, p. 379-379.e1 1 p.

Research output: Contribution to journalLetter

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

A Diagnostic Odyssey - – Red Flags in the Red Sand

Baynam, G. S., 2015, In : MEDICUS. 2015, p. 2 2 p.

Research output: Contribution to journalReview article

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

92 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
17 Citations (Scopus)

Phenotyping: Targeting genotype’s rich cousin for diagnosis

Baynam, G., Walters, M., Claes, P., Kung, S., Le Souef, P., Dawkins, H., Bellgard, M., Girdea, M., Brudno, M., Robinson, P., Zankl, A., Groza, T., Gillett, D. & Goldblatt, J., 2015, In : Journal of Paediatrics and Child Health. 51, p. 381-386

Research output: Contribution to journalLiterature review

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
95 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
15 Citations (Scopus)

Multinodular goiter in children: an important pointer to a germline DICER1 mutation

Rath, S. R., Bartley, A., Charles, A., Powers, N., Baynam, G., Jones, T., Priest, J. R., Foulkes, W. D. & Choong, C., 2014, In : Journal of Clinical Endocrinology and Metabolism. 99, 6, p. 1947-1948

Research output: Contribution to journalReview article