The genetic architecture of type 1 diabetes mellitus by Nyaga, Denis M., Vickers, Mark H., Jefferies, Craig, Perry, Jo K., O'Sullivan, Justin M.

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Untangling the genetic link between type 1 and type 2 diabetes using functional genomics by Nyaga, Denis M., Vickers, Mark H., Jefferies, Craig, Fadason, Tayaza, O’Sullivan, Justin M.

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Type 1 Diabetes Mellitus-Associated Genetic Variants Contribute to Overlapping Immune Regulatory Networks by Nyaga, Denis M, Vickers, Mark H, Jefferies, Craig, Perry, Jo K, O'Sullivan, Justin M

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A review of model evaluation metrics for machine learning in genetics and genomics by Miller, Catriona, Portlock, Theo, Nyaga, Denis M, O'Sullivan, Justin M

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Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand by Nyaga, Denis M., Tsai, Peter, Gebbie, Clare, Phua, Hui Hui, Yap, Patrick, Le Quesne Stabej, Polona, Farrow, Sophie, Rong, Jing, Toldi, Gergely, Thorstensen, Eric, Stark, Zornitza, Lunke, Sebastian, Gamet, Kimberley, Van Dyk, Jodi, Greenslade, Mark, O’Sullivan, Justin M.

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Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report by Nyaga, Denis M., Hildebrand, Michael S., Valles‐Ibáñez, Guillem, Keenan, Ngaire F., Ye, Zimeng, LaFlamme, Christy W., Mefford, Heather C., Bennett, Mark F., Bahlo, Melanie, Sadleir, Lynette G.

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Identifying the lungs as a susceptible site for allele-specific regulatory changes associated with type 1 diabetes risk by Ho, Daniel, Nyaga, Denis M., Schierding, William, Saffery, Richard, Perry, Jo K., Taylor, John A., Vickers, Mark H., Kempa-Liehr, Andreas W., O’Sullivan, Justin M.

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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy by Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G., Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G., Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G., Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R., Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol, Schoels, Ludger, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A., McPherson, Peter S.

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Assigning function to SNPs: Considerations when interpreting genetic variation by Fadason, Tayaza, Farrow, Sophie, Gokuladhas, Sreemol, Golovina, Evgeniia, Nyaga, Denis, O’Sullivan, Justin M., Schierding, William

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SCN8A self‐limited infantile epilepsy: Does epilepsy resolve? by Young, Emma, Harris, Rebekah, Lieffering, Nico, Valles‐Ibáñez, Guillem, Nyaga, Denis, Bennett, Mark F., Hildebrand, Michael S., Scheffer, Ingrid E., Sadleir, Lynette G.

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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia by Sibbin, Kristina, Yap, Patrick, Nyaga, Denis, Heller, Raoul, Evans, Stephen, Strachan, Kate, Alburaiky, Salam, Nguyen, Han M. (Alex), Hermann‐Le Denmat, Sylvie, Ganley, Austen R. D., O'Sullivan, Justin M., Bloomfield, Frank H.

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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia by Sibbin, Kristina, Yap, Patrick, Nyaga, Denis, Heller, Raoul, Evans, Stephen, Strachan, Kate, Alburaiky, Salam, Nguyen, Han M Alex, Hermann-Le Denmat, Sylvie, Ganley, Austen R D, O'Sullivan, Justin M, Bloomfield, Frank H

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A transcription regulatory network within the ACE2 locus may promote a pro-viral environment for SARS-CoV-2 by modulating expression of host factors by Fadason, Tayaza, Gokuladhas, Sreemol, Golovina, Evgeniia, Ho, Daniel, Farrow, Sophie, Nyaga, Denis M, Pan, Hong, Karnani, Neerja, Conroy, Wong, Cooper, Antony, Schierding, William, O'sullivan, Justin M

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