| Preview | Issue Date | Title | Author(s) |
| 2016 | A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts | Ha, T.; Sadleir, L.; Mandelstam, S.; Paterson, S.; Scheffer, I.; Gecz, J.; Corbett, M. |
| 2016 | A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability | Kumar, R.; Ha, T.; Pham, D.; Shaw, M.; Mangelsdorf, M.; Friend, K.L.; Hobson, L.; Turner, G.; Boyle, J.; Field, M.; Hackett, A.; Corbett, M.; Gecz, J. |
| 2023 | Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders | Batkovskyte, D.; McKenzie, F.; Taylan, F.; Simsek-Kiper, P.O.; Nikkel, S.M.; Ohashi, H.; Miyahara, H.; Eriksson, G.; Ha, T.; Utine, G.E.; Chiu, T.; Shimizu, K.; Hammarsjo, A.; Boduroglu, K.; Arts, P.; Babic, M.; Jackson, M.R.; Papadogiannakis, N.; Lindstrand, A.; Nordgren, A.; et al. |
| 2014 | Claudin-1 expression is elevated in colorectal cancer precursor lesions harboring the BRAF V600E mutation | Caruso, M.; Fung, K.; Moore, J.; Brierley, G.; Cosgrove, L.; Thomas, M.; Cheetham, G.; Brook, E.; Fraser, L.; Tin, T.; Ha, T.; Ruszkiewicz, A. |
| 2021 | Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia | De Angelis, C.; Byrne, A.B.; Morrow, R.; Feng, J.; Ha, T.; Wang, P.; Schreiber, A.W.; Babic, M.; Taranath, A.; Manton, N.; King-Smith, S.L.; Schwarz, Q.; Arts, P.; Scott, H.S.; Barnett, C. |
| 2023 | Integrated multi-omics for rapid rare disease diagnosis on a national scale | Lunke, S.; Bouffler, S.E.; Patel, C.V.; Sandaradura, S.A.; Wilson, M.; Pinner, J.; Hunter, M.F.; Barnett, C.P.; Wallis, M.; Kamien, B.; Tan, T.Y.; Freckmann, M.-L.; Chong, B.; Phelan, D.; Francis, D.; Kassahn, K.S.; Ha, T.; Gao, S.; Arts, P.; Jackson, M.R.; et al. |
| 2019 | Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment | Quartier, A.; Courraud, J.; Ha, T.; McGillivray, G.; Isidor, B.; Rose, K.; Drouot, N.; Savidan, M.-A.; Feger, C.; Jagline, H.; Chelly, J.; Shaw, M.; Laumonnier, F.; Gecz, J.; Mandel, J.-L.; Piton, A. |
| 2020 | Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome | Arts, P.; Garland, J.; Byrne, A.B.; Hardy, T.S.E.; Babic, M.; Feng, J.; Wang, P.; Ha, T.; King-Smith, S.L.; Schreiber, A.W.; Crawford, A.; Manton, N.; Moore, L.; Barnett, C.P.; Scott, H.S. |
| 2020 | RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML | Brown, A.L.; Arts, P.; Carmichael, C.L.; Babic, M.; Dobbins, J.; Chong, C.-E.; Schreiber, A.W.; Feng, J.; Phillips, K.; Wang, P.P.S.; Ha, T.; Homan, C.C.; King-Smith, S.L.; Rawlings, L.; Vakulin, C.; Dubowsky, A.; Burdett, J.; Moore, S.; McKavanagh, G.; Henry, D.; et al. |
| 2014 | The relationship between hypotension, cerebral flow, and the surgical field during endoscopic sinus surgery | Ha, T.; van Renen, R.; Ludbrook, G.; Valentine, R.; Ou, J.; Wormald, P. |
| 2022 | Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant | Yıldız Bölükbaşı, E.; Karolak, J.A.; Szafranski, P.; Gambin, T.; Matsika, A.; McManus, S.; Scott, H.S.; Arts, P.; Ha, T.; Barnett, C.P.; Rodgers, J.; Stankiewicz, P. |
