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Lunke, Sebastian
82
results:
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1
The cost of proband and trio exome and genome analysis in r..:
Mordaunt, Dylan A.
;
Gonzalez, Francisco Santos
;
Lunke, Sebastian
...
Genetics in Medicine. 26 (2024) 4 - p. 101058 , 2024
Link:
https://doi.org/10.1016/..
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2
Prospective cohort study of genomic newborn screening: Baby..:
Lunke, Sebastian
;
Bouffler, Sophie E
;
Downie, Lilian
...
BMJ Open. 14 (2024) 4 - p. e081426 , 2024
Link:
https://doi.org/10.1136/..
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3
Australian Public Perspectives on Genomic Newborn Screening..:
Lynch, Fiona
;
Best, Stephanie
;
Gaff, Clara
...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 6 , 2024
Link:
https://doi.org/10.3390/..
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4
Australian public perspectives on genomic newborn screening..:
Lynch, Fiona
;
Best, Stephanie
;
Gaff, Clara
...
Human Genomics. 18 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
5
Reanalysis of genomic data in rare disease: current practic..:
Best, Stephanie
;
Fehlberg, Zoe
;
Richards, Christopher
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
6
Gene selection for genomic newborn screening: Moving toward..:
Downie, Lilian
;
Bouffler, Sophie E.
;
Amor, David J.
...
Genetics in Medicine. 26 (2024) 5 - p. 101077 , 2024
Link:
https://doi.org/10.1016/..
?
7
Genetic counseling workforce diversity, inclusion, and capa..:
Kanga-Parabia, Anaita
;
Mitchell, Lucas
;
Smyth, Renee
...
Genetics in Medicine Open. , 2024
Link:
https://doi.org/10.1016/..
?
8
Key informant perspectives on implementing genomic newborn ..:
Tutty, Erin
;
Archibald, Alison D.
;
Downie, Lilian
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
9
P534: Piloting an Australian quality assurance program inte..:
Byrne, Alicia
;
Azmanov, Dimitar
;
Chai, Sze
...
Genetics in Medicine Open. 2 (2024) - p. 101433 , 2024
Link:
https://doi.org/10.1016/..
?
10
The BabyScreen+ Study: a genomic newborn screening pilot:
Lunke, Sebastian
Pathology. 56 (2024) - p. S20 , 2024
Link:
https://doi.org/10.1016/..
?
11
P305: Evaluation of the feasibility, diagnostic yield, and ..:
Yan Liang, Nicole Si
;
Costain, Gregory
;
D'Gama, Alissa
...
Genetics in Medicine Open. 2 (2024) - p. 101201 , 2024
Link:
https://doi.org/10.1016/..
?
12
Elusive variants in autosomal recessive disease: how can we..:
Horton, Ari E.
;
Lunke, Sebastian
;
Sadedin, Simon
..
European Journal of Human Genetics. 31 (2023) 4 - p. 371-374 , 2023
Link:
https://doi.org/10.1038/..
?
13
POLR1A variants underlie phenotypic heterogeneity in cranio..:
Smallwood, Kelly
;
Watt, Kristin E.N.
;
Ide, Satoru
...
The American Journal of Human Genetics. 110 (2023) 5 - p. 809-825 , 2023
Link:
https://doi.org/10.1016/..
?
14
Evaluation of the feasibility, diagnostic yield, and clinic..:
D'Gama, Alissa M
;
Mulhern, Sarah
;
Sheidley, Beth R
...
The Lancet Neurology. 22 (2023) 9 - p. 812-825 , 2023
Link:
https://doi.org/10.1016/..
?
15
Integrated multi-omics for rapid rare disease diagnosis on ..:
Lunke, Sebastian
;
Bouffler, Sophie E.
;
Patel, Chirag V.
...
Nature Medicine. 29 (2023) 7 - p. 1681-1691 , 2023
Link:
https://doi.org/10.1038/..
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