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Lunke, Sebastian
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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10

The BabyScreen+ Study: a genomic newborn screening pilot:

Lunke, Sebastian
Pathology.  56 (2024)  - p. S20 , 2024
Link: https://doi.org/10.1016/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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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