Villani, RM, Terrill, B, Tudini, E, Matotek, E, Mattiske, T, Cliffe, CC, Thompson, BA, Satgunaseelan, L, Hahn, CN, Lundie, B, et al.
Community co-designed workshops build confidence in use of functional evidence for variant classification.
2026
view publication
Villani, RM, Terrill, B, Tudini, E, McKenzie, ME, Cliffe, CC, Hahn, CN, Lundie, B, Mattiske, T, Matotek, E, McEwen, AE, et al.
Consultation informs strategies for improving the use of functional evidence in variant classification..
Am J Hum Genet
112(6)
:
1489 -1495
2025
view publication
Villani, RM, Terrill, B, Tudini, E, McKenzie, ME, Cliffe, CC, Hahn, CN, Lundie, B, Mattiske, T, Matotek, E, McEwen, AE, et al.
Consultation informs strategies to improve functional evidence use in variant classification..
2024
view publication
Scott, HS, Matotek, E, Mattiske, T, Bryson-Richardson, RJ, Smyth, I, Gecz, J, Christodoulou, J, Palpant, N, Smith, K, Warr, C, et al.
How the Australian Functional Genomics Network (AFGN) contributes to improved patient care.
Pathology
56:
s21 -s22
2024
view publication
Walsh, M, West, K, Taylor, JA, Thompson, BA, Hopkins, A, Sexton, A, Ragunathan, A, Verma, KP, Panetta, J, Matotek, E, et al.
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department..
Genet Med
24(7)
:
1536 -1544
2022
view publication
