Karin S. Kassahn
Adelaide, SA, Australia
Last Updated: 09/26/2026
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Found 50 publications
NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.
Journal: BMJ open
Published: March 11, 2026
Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study.
Journal: Neuromuscular disorders : NMD
Published: December 03, 2025
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.
Journal: Epilepsia
Published: October 31, 2025
Semi-automated genomic newborn screening highlights complexities in reporting.
Journal: NPJ genomic medicine
Published: August 08, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Journal: medRxiv : the preprint server for health sciences
Published: July 15, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.
Journal: The Journal of molecular diagnostics : JMD
Published: June 10, 2025
Automated reanalysis of genomic data for rare disease diagnostics at scale.
Journal: Nature medicine
Published: May 21, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN).
Journal: Journal of paediatrics and child health
Published: March 19, 2025
Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features.
Journal: Blood cancer journal
Published: May 09, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 17, 2024
Last Updated: 09/26/2026