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Showing results 6 to 11 of 11
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Issue Date
Title
Author(s)
2023-08-02
Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
Freeman, L
;
Bristowe, L
;
Kirk, EP
;
Delatycki, MB
;
Scully, JL
2022-11-01
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
Archibald, AD
;
McClaren, BJ
;
Caruana, J
;
Tutty, E
;
King, EA
;
Halliday, JL
;
Best, S
;
Kanga-Parabia, A
;
Bennetts, BH
;
Cliffe, CC
;
Madelli, EO
;
Ho, G
;
Liebelt, J
;
Long, JC
;
Braithwaite, J
;
Kennedy, J
;
Massie, J
;
Emery, JD
;
McGaughran, J
;
Marum, JE
;
Boggs, K
;
Barlow-Stewart, K
;
Burnett, L
;
Dive, L
;
Freeman, L
;
Davis, MR
;
Downes, MJ
;
Wallis, M
;
Ferrie, MM
;
Pachter, N
;
Scuffham, PA
;
Casella, R
;
Allcock, RJN
;
Ong, R
;
Edwards, S
;
Righetti, S
;
Lunke, S
;
Lewis, S
;
Walker, SP
;
Boughtwood, TF
;
Hardy, T
;
Newson, AJ
;
Kirk, EP
;
Laing, NG
;
Delatycki, MB
2022-09
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.
Freeman, L
;
Righetti, S
;
Delatycki, MB
;
Scully, JL
;
Kirk, EP
2023-05
Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening.
Freeman, L
;
Delatycki, MB
;
Scully, JL
;
Briggs, N
;
Kirk, EP
2022-12
Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.
Freeman, L
;
Delatycki, MB
;
Leach Scully, J
;
Kirk, EP
2018-12-01
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Ewans, LJ
;
Schofield, D
;
Shrestha, R
;
Zhu, Y
;
Gayevskiy, V
;
Ying, K
;
Walsh, C
;
Lee, E
;
Kirk, EP
;
Colley, A
;
Ellaway, C
;
Turner, A
;
Mowat, D
;
Worgan, L
;
Freckmann, ML
;
Lipke, M
;
Sachdev, R
;
Miller, D
;
Field, M
;
Dinger, ME
;
Buckley, MF
;
Cowley, MJ
;
Roscioli, T