Gear, R, Kalitsis, P, Glass, M, Isidor, B, Vincent-Delorme, C, Petit, F, Verhagen, JMA, Jorge, A, Krepischi, ACV, Osei-Owusu, I, et al.
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions..
Am J Med Genet A
197(11)
:
e64153
2025
view publication
McGahan, E, Berkman, J, Milne, D, Terrill, B, Gear, R, Gardiner, S, Eckstein, L, Nicol, D, Taylor, N, Winship, I, et al.
Empowering human research ethics committees to review genomics applications: evaluating the utility of a custom online education resource..
Eur J Hum Genet
33(7)
:
945 -955
2025
view publication
Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans..
Hum Mol Genet
31(3)
:
362 -375
2022
view publication
Bournazos, AM, Riley, LG, Bommireddipalli, S, Ades, L, Akesson, LS, Al-Shinnag, M, Alexander, SI, Archibald, AD, Balasubramaniam, S, Berman, Y, et al.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants..
Genet Med
24(1)
:
130 -145
2022
view publication
Nisselle, A, Janinski, M, Martyn, M, McClaren, B, Kaunein, N, Reporting Item Standards for Education and its Evaluation in Genomics Expert Group, Barlow-Stewart, K, Belcher, A, Bernat, JA, Best, S, et al.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)..
Genet Med
23(7)
:
1356 -1365
2021
view publication
Comparing the Efficacy and Acceptability of Genomic Testing and Skin Biopsy in Diagnosing Monogenic Skin DiseaseFunder name: National Health and Medical Research Council
2022
