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Kassahn, Karin S
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1

Germline ERG haploinsufficiency defines a new syndrome with..:

Zerella, Jiarna Rose ; Homan, Claire C ; Arts, Peer...
Blood Journal.  , 2024
Link: https://doi.org/10.1182/..
 
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2

The Multi-Omic Approach to Newborn Screening: Opportunities..:

Ashenden, Alex J. ; Chowdhury, Ayesha ; Anastasi, Lucy T....
International Journal of Neonatal Screening.  10 (2024)  3 - p. 42 , 2024
Link: https://doi.org/10.3390/..
 
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3

Extending the new era of genomic testing into pregnancy man..:

Rogers, Alice ; De Jong, Lucas ; Waters, Wendy...
Australian and New Zealand Journal of Obstetrics and Gynaecology.  , 2024
Link: https://doi.org/10.1111/..
 
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4

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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5

Genomic autopsy to identify underlying causes of pregnancy ..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine.  29 (2023)  1 - p. 180-189 , 2023
Link: https://doi.org/10.1038/..
 
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6

Author Correction: Genomic autopsy to identify underlying c..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine.  30 (2023)  1 - p. 302-302 , 2023
Link: https://doi.org/10.1038/..
 
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7

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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8

Expanding the phenotype of DNMT3A as a cause a congenital m..:

Ghaoui, Roula ; Ha, Thuong T. ; Kerkhof, Jennifer...
Neuromuscular Disorders.  33 (2023)  6 - p. 484-489 , 2023
Link: https://doi.org/10.1016/..
 
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9

Identification and targeted management of a neurodegenerati..:

Byrne, Alicia B. ; Arts, Peer ; Polyak, Steven W....
npj Genomic Medicine.  4 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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10

Hypermutation In Pancreatic Cancer:

Humphris, Jeremy L. ; Patch, Ann-Marie ; Nones, Katia...
Gastroenterology.  152 (2017)  1 - p. 68-74.e2 , 2017
Link: https://doi.org/10.1053/..
 
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11

Lost in translation: returning germline genetic results in ..:

Australian Pancreatic Cancer Genome Initiative ; Johns, Amber L. ; McKay, Skye H....
Genome Medicine.  9 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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12

Complex genetic test requests in SA: An MDT approach:

Kaub, Peter A. ; Kassahn, Karin S. ; Fletcher, Janice M.
Pathology.  48 (2016)  - p. S29 , 2016
Link: https://doi.org/10.1016/..
 
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13

Case report of whole genome sequencing in the XY female: id..:

De Sousa, Sunita M. C. ; Kassahn, Karin S. ; McIntyre, Liam C....
BMC Endocrine Disorders.  16 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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14

Whole–genome characterization of chemoresistant ovarian can..:

Patch, Ann-Marie ; Christie, Elizabeth L. ; Etemadmoghadam, Dariush...
Nature.  521 (2015)  7553 - p. 489-494 , 2015
Link: https://doi.org/10.1038/..
 
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15

Erratum: Corrigendum: Whole–genome characterization of chem..:

The Australian Ovarian Cancer Study ; Patch, Ann-Marie ; Christie, Elizabeth L....
Nature.  527 (2015)  7578 - p. 398-398 , 2015
Link: https://doi.org/10.1038/..
 
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