Baynam, Gareth

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

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., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 677

How many rare diseases are there?

Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., et al. (2020) · Nature Reviews Drug Discovery

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

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., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

The Human Phenotype Ontology in 2024: phenotypes around the world

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., et al. (2024) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 410

Rights, Interests and Expectations: Indigenous Perspectives on Unrestricted Access to Genomic Data

Hudson, M., Garrison, N. A., Sterling, R., Caron, N. R., Fox, K., Yracheta, J., Anderson, J., Wilcox, P., Arbour, L., Brown, A., et al. (2020) · Nature Reviews Genetics

Ethics in Clinical ResearchIndigenous Health, Education, and Rights

Cited by 320

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., et al. (2019) · Cell

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 177

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Personalised analytics for rare disease diagnostics

Anderson, D., Baynam, G., Blackwell, J. M., & Lassmann, T. (2019) · Nature Communications

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 24

Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study

Junaid, M., Slack-Smith, L., Wong, K., Baynam, G., Calache, H., Hewitt, T., & Leonard, H. (2023) · The Cleft Palate Craniofacial Journal

Craniofacial Disorders and TreatmentsCleft Lip and Palate Research

Cited by 9

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

Farley, K. O., Forbes, C. A., Shaw, N. C., Kuzminski, E., Ward, M., Baynam, G., Lassmann, T., & Fear, V. S. (2024) · Human Genetics and Genomics Advances

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 5