Publications by authors named "Arthavan Selvanathan"

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An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.
Samantha A Sandelowsky, Alison McEwen, Jacqui Russell, Kirsten Boggs, Rosie Junek, Arthavan Selvanathan

Int J Neonatal Screen· April 2025

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Hematologic Manifestations in Primary Mitochondrial Diseases.
Arthavan Selvanathan, Juliana Teo, Bindu Parayil Sankaran

J Pediatr Hematol Oncol· July 2024

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Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report.
Arthavan Selvanathan, Rebecca Macintosh, Alexandra Johnson, Vanessa Sarkozy, Kristen Neville

Epileptic Disord· October 2023

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Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Louisa Adams, Arthavan Selvanathan, Kiera J Batten, Nancy van Doorn, Susan Thompson

JIMD Rep· September 2023

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Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.
Arthavan Selvanathan, C Forwood, J Russell, K Batten, S Thompson

Pediatr Blood Cancer· April 2023

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The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Sarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, Louisa Adams, Carolyn Ellaway, Arthavan Selvanathan

Mol Genet Metab· January 2023

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Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
Susan Thompson, Ashley Hertzog, Arthavan Selvanathan, Kiera Batten, Katherine Lewis

Nutrients· January 2023

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Intronic variants in inborn errors of metabolism: Beyond the exome.
Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams

Front Genet· December 2022

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3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won-Tae Kim, Maina P Kava

JIMD Rep· November 2022

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A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.
Ashley Hertzog, Arthavan Selvanathan, Beena Devanapalli, Gladys Ho, Kaustuv Bhattacharya

Transl Pediatr· October 2022

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N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle

JIMD Rep· September 2022

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A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.
Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard de Jong

JIMD Rep· July 2022

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Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
Margit Shah, Arthavan Selvanathan, Gareth Baynam, Yemima Berman, Tiffany Boughtwood

J Paediatr Child Health· January 2022

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Mitochondrial iron-sulfur cluster biogenesis and neurological disorders.
Arthavan Selvanathan, Bindu Parayil Sankaran

Mitochondrion· January 2022

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FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Lisa G Riley, Michael Nafisinia, Minal J Menezes, Reta Nambiar, Andrew Williams, Arthavan Selvanathan

Mol Genet Metab· January 2022

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Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.
Ashley Hertzog, Arthavan Selvanathan, Adviye A Tolun, Bindu Parayil Sankaran, Kaustuv Bhattacharya

J Paediatr Child Health· October 2021

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Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series.
Arthavan Selvanathan, Jane Kinsella, Francesca Moore, Robert Wynn, Simon Jones

JIMD Rep· September 2021

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Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
Samantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, Corrina Cliffe, George Elakis, Arthavan Selvanathan

J Mol Diagn· July 2021

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Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.
Arthavan Selvanathan, Ashley Hertzog, Daniel A Lemberg, Carolyn Ellaway

J Pediatr Gastroenterol Nutr· August 2020

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Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Arthavan Selvanathan, Cheng Yee Nixon, Ying Zhu, Luigi Scietti, Federico Forneris

Genes (Basel)· April 2020

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User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
Sarah Josephi-Taylor, Kristine Barlow-Stewart, Arthavan Selvanathan, Tony Roscioli, Alan Bittles

J Genet Couns· April 2019

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Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, Sarah Josephi-Taylor, Lisa Worgan

Genet Med· March 2019

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Efficacy of JAK/STAT pathway inhibition in murine xenograft models of early T-cell precursor (ETP) acute lymphoblastic leukemia.
Shannon L Maude, Sibasish Dolai, Cristina Delgado-Martin, Tiffaney Vincent, Alissa Robbins, Arthavan Selvanathan

Blood· March 2015

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