Emma Krzesinski

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson et al. · JAMA · 2020 · 237 citations · Full text

Medicine, Child Health, Pediatrics +13

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G. Kerr et al. · Genetics in Medicine · 2020 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Gemma R. Brett, Melissa Martyn, Fiona Lynch et al. · Genetics in Medicine · 2020 · 51 citations · Full text

Life Sciences, Genetics, Pediatrics +6