Karin S. Kassahn
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View article: A microarray approach to understanding stress in a coral reef fish
A microarray approach to understanding stress in a coral reef fish Open
Coral reef fishes are expected to experience a rise in sea surface temperatures due to climate change. How well tropical reef fishes will respond to these increased temperatures and which genes are important in the response to elevated tem…
View article: Genomic Screening Consortium for Australian Newborns (<scp>GenSCAN</scp>)
Genomic Screening Consortium for Australian Newborns (<span>GenSCAN</span>) Open
Background Using genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the…
View article: Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts Open
Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necessary to ensure scalability, adoption and…
View article: Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023 Open
The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney gene…
View article: Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features
Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features Open
Myeloid neoplasms arising after methotrexate
View article: Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition Open
The genomics era has facilitated the discovery of new genes that predispose individuals to bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of ETS-related gene (ERG), a novel, autosomal dominant BMF/HM p…
View article: Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion Open
\n Contains fulltext :\n 307821.pdf (Publisher’s version ) (Open Access)\n
View article: The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges Open
Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal trea…
View article: Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services Open
Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the promise of delivering the benefits of reanalysis at scale. Our study aimed to understand current reanalysis …
View article: Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services Open
Background Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. Aims Assess clinical outcomes and changes in management af…
View article: DCTA triplets: a fascinating trip
DCTA triplets: a fascinating trip Open
View article: P534: Piloting an Australian quality assurance program interpretive module for genomic testing
P534: Piloting an Australian quality assurance program interpretive module for genomic testing Open
In recent years, the Australian Government-funded healthcare scheme, Medicare, has approved the provision of genomic testing (exome or genome sequencing-based tests) as part of the Medicare Benefits Schedule (MBS) which provides publicly-s…
View article: Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Open
View article: Integrated multi-omics for rapid rare disease diagnosis on a national scale
Integrated multi-omics for rapid rare disease diagnosis on a national scale Open
View article: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Open
View article: Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation Open
View article: The clinical and genetic features of hereditary pancreatitis in South Australia
The clinical and genetic features of hereditary pancreatitis in South Australia Open
The estimated prevalence of hereditary pancreatitis in South Australia is higher than in Europe. PRSS1 gene mutations are important causes, particularly among Indigenous young people.
View article: A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence
A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence Open
Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who experienced perinatal death, an…
View article: Whole-Genome Sequencing of SARS-CoV-2 from Quarantine Hotel Outbreak
Whole-Genome Sequencing of SARS-CoV-2 from Quarantine Hotel Outbreak Open
Hotel quarantine for international travelers has been used to prevent coronavirus disease spread into Australia. A quarantine hotel-associated community outbreak was detected in South Australia. Real-time genomic sequencing enabled rapid c…
View article: HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer
HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer Open
View article: Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 Open
View article: Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Open
View article: Lost in translation: returning germline genetic results in genome-scale cancer research
Lost in translation: returning germline genetic results in genome-scale cancer research Open
View article: Additional file 2: of Lost in translation: returning germline genetic results in genome-scale cancer research
Additional file 2: of Lost in translation: returning germline genetic results in genome-scale cancer research Open
Gene List, which includes the list of candidate genes selected for the RoR process. (XLSX 60 kb)
View article: Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome Open
View article: Complex genetic test requests in SA: An MDT approach
Complex genetic test requests in SA: An MDT approach Open
View article: Erratum: Corrigendum: Whole–genome characterization of chemoresistant ovarian cancer
Erratum: Corrigendum: Whole–genome characterization of chemoresistant ovarian cancer Open
View article: Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance
Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance Open
Treatment options for patients with brain metastases ( BMs ) have limited efficacy and the mortality rate is virtually 100%. Targeted therapy is critically under‐utilized, and our understanding of mechanisms underpinning metastatic outgrow…
View article: Whole genomes redefine the mutational landscape of pancreatic cancer
Whole genomes redefine the mutational landscape of pancreatic cancer Open
View article: The ReFuGe 2020 Consortium—using “omics” approaches to explore the adaptability and resilience of coral holobionts to environmental change
The ReFuGe 2020 Consortium—using “omics” approaches to explore the adaptability and resilience of coral holobionts to environmental change Open
Human-induced environmental changes have been linked directly with loss of biodiversity. Coral reefs, which have been severely impacted by anthropogenic activities over the last few decades, exemplify this global problem and provide an opp…