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E. Krzesinski · SciRah

Researcher profile · Semantic Scholar

E. Krzesinski

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E. Krzesinski — researcher profile on SciRah

h-index: 10
Works: 20
Citations: 572

Most-cited papers

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
S. Lunke, S. Eggers, M. Wilson, C. Patel +62 more
2020Journal of the American Medical Association (JAMA)213 citations Open access
Semantic Scholar
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
K. Jayasinghe, Zornitza Stark, P. Kerr, C. Gaff +26 more
2020Genetics in Medicine112 citations Open access
Semantic Scholar
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
A. Bournazos, L. Riley, Shobhana Bommireddipalli, L. Adès +212 more
2021Genetics in Medicine85 citations Open access
Semantic Scholar
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
Gemma R. Brett, M. Martyn, Fiona Lynch, M. de Silva +17 more
2020Genetics in Medicine37 citations Open access
Semantic Scholar
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
D. Eratne, Amy L. Schneider, Ella Lynch, M. Martyn +37 more
2020Journal of Neurological Sciences23 citations Open access
Semantic Scholar
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
Lauren S. Akesson, S. Eggers, Clare J. Love, B. Chong +9 more
2019European Journal of Human Genetics22 citations Open access
Semantic Scholar
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
K. Jayasinghe, E. Biros, Trudie Harris, Alasdair Wood +56 more
2024Kidney International Reports20 citations Open access
Semantic Scholar
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
S. Amarasekera, D. Hock, N. Lake, S. Calvo +15 more
2023Human Molecular Genetics18 citations Open access
Semantic Scholar
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
D. Francis, Zornitza Stark, I. Scheffer, T. Tan +21 more
2022European Journal of Human Genetics12 citations Open access
Semantic Scholar
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
Lauren S. Akesson, A. Bournazos, A. Fennell, E. Krzesinski +13 more
2020Human Mutation10 citations Open access
Semantic Scholar
Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort
Kerith-Rae Dias, R. Shrestha, Deborah Schofield, Carey-Anne Evans +61 more
2024Genetics in Medicine7 citations Open access
Semantic Scholar
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
M. Wallis, Simon Bodek, J. Munro, H. Rafehi +33 more
2024Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate
Lauren S. Akesson, A. Bournazos, A. Fennell, E. Krzesinski +11 more
20205 citations Open access
Semantic Scholar
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia
Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee +16 more
2024Genetics in medicine open2 citations
Semantic Scholar
Scaling up Genomics: A Mainstream Model of Care in Nephrology.
Kushani Jayasinghe, Rigan Tytherleigh, S. Best, Simon Bodek +38 more
2026American Society of Nephrology. Clinical Journal1 citations
Semantic Scholar
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses
Mahalia S. B. Frank, M. K. Bennett, T. Ha, L. Moore +29 more
2025Human Genomics1 citations Open access
Semantic Scholar
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
K. Jayasinghe, Zornitza Stark, P. Kerr, C. Gaff +26 more
2020Genetics in Medicine1 citations Open access
Semantic Scholar
Reclassifying a LAMP2 Splicing Variant of Uncertain Significance to Pathogenic Following Familial Segregation and Functional RNA Diagnostics
A. Horton, A. Bournazos, F. Cunningham, M. Regan +5 more
2022Heart, Lung and Circulation0 citations Open access
Semantic Scholar
Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care
Lauren S. Akesson, S. Eggers, B. Chong, M. Hunter +8 more
2019Pathology (Sydney)0 citations
Semantic Scholar
A national approach to rapid genomic diagnosis in acute paediatrics
S. Lunke, C. Patel, Michael J. Wilson, J. Pinner +40 more
20190 citations
Semantic Scholar

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Zornitza Stark×16
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Zornitza Stark — researcher profile on SciRah
S. Lunke×15
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S. Lunke — researcher profile on SciRah
Lauren S. Akesson×8
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Lauren S. Akesson — researcher profile on SciRah
A. Fennell×7
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C. Patel — researcher profile on SciRah

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