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ArticlesPeer ReviewedFull Text
An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening
Author / Creator:Sandelowsky, Samantha A. ; McEwen, Alison ; Russell, Jacqui ; Boggs, Kirsten ; Junek, Rosie ; Ellaway, Carolyn ; Selvanathan, Arthavan ; Farrar, Michelle A. ; Bhattacharya, Kaustuv
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2025-06, Vol.11 (2), p.32
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ArticlesPeer ReviewedFull Text
Diagnosis and management of children with McArdle Syndrome ( GSD V) in New South Wales
Author / Creator:Adams, Louisa ; Selvanathan, Arthavan ; Batten, Kiera J. ; van Doorn, Nancy ; Thompson, Susan ; Mitchell, Ashleigh ; Sampaio, Hugo ; Dalkeith, Troy ; Russell, Jacqui ; Ellaway, Carolyn J. ; Farrar, Michelle ; Broderick, Carolyn ; Bhattacharya, Kaustuv
Publisher:United States: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-09, Vol.64 (5), p.327-336
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ArticlesPeer ReviewedFull Text
3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Author / Creator:Hertzog, Ashley ; Selvanathan, Arthavan ; Pandithan, Dinusha ; Kim, Won‐Tae ; Kava, Maina P. ; Boneh, Avihu ; Coman, David ; Tolun, Adviye Ayper ; Bhattacharya, Kaustuv
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-11, Vol.63 (6), p.568-574
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ArticlesPeer ReviewedFull Text
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
Author / Creator:Selvanathan, Arthavan ; Kinsella, Jane ; Moore, Francesca ; Wynn, Robert ; Jones, Simon ; Shaw, Peter J. ; Wilcken, Bridget ; Bhattacharya, Kaustuv
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-09, Vol.61 (1), p.3-11
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ArticlesPeer ReviewedFull Text
A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency
Author / Creator:Hertzog, Ashley ; Selvanathan, Arthavan ; Halligan, Rebecca ; Fazio, Timothy ; Jong, Gerard ; Bratkovic, Drago ; Bhattacharya, Kaustuv ; Tolun, Adviye Ayper ; Bennetts, Bruce ; Fisk, Katrina
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-07, Vol.63 (4), p.271-275
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ArticlesPeer ReviewedFull Text
N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report
Author / Creator:Selvanathan, Arthavan ; Demetriou, Kalliope ; Lynch, Matthew ; Lipke, Michelle ; Bursle, Carolyn ; Elliott, Aoife ; Inwood, Anita ; Foyn, Leanne ; McWhinney, Brett ; Coman, David ; McGill, Jim
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-09, Vol.63 (5), p.420-424
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ArticlesPeer ReviewedFull Text
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
Author / Creator:Selvanathan, Arthavan ; Nixon, Cheng Yee ; Zhu, Ying ; Scietti, Luigi ; Forneris, Federico ; Moreno Uribe, Lina M. ; Lidral, Andrew C. ; Jezewski, Peter A. ; Mulliken, John B. ; Murray, Jeffrey C. ; Buckley, Michael F. ; Cox, Timothy C. ; Roscioli, Tony
Publisher:Switzerland: MDPI
Journal title:Genes, 2020-04, Vol.11 (4), p.391
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ArticlesPeer ReviewedFull Text
Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”
Author / Creator:Kirk, Edwin P. ; Barlow-Stewart, Kristine ; Selvanathan, Arthavan ; Josephi-Taylor, Sarah ; Worgan, Lisa ; Rajagopalan, Sulekha ; Cowley, Mark J. ; Gayevskiy, Velimir ; Bittles, Alan ; Burnett, Leslie ; Elakis, George ; Lo, William ; Buckley, Michael ; Colley, Alison ; Roscioli, Tony
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.608-612
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ArticlesPeer ReviewedFull Text
Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
Author / Creator:Thompson, Susan ; Hertzog, Ashley ; Selvanathan, Arthavan ; Batten, Kiera ; Lewis, Katherine ; Nisbet, Janelle ; Mitchell, Ashleigh ; Dalkeith, Troy ; Billmore, Kate ; Moore, Francesca ; Tolun, Adviye Ayper ; Devanapalli, Beena ; Bratkovic, Drago ; Hilditch, Cathie ; Rahman, Yusof ; Tchan, Michel ; Bhattacharya, Kaustuv
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2023-01, Vol.15 (3), p.531
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ArticlesPeer ReviewedFull Text
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia
Author / Creator:Josephi-Taylor, Sarah ; Barlow-Stewart, Kristine ; Selvanathan, Arthavan ; Roscioli, Tony ; Bittles, Alan ; Meiser, Bettina ; Worgan, Lisa ; Rajagopalan, Sulekha ; Colley, Alison ; Kirk, Edwin P
Publisher:New York: Blackwell Publishing Ltd
Journal title:Journal of genetic counseling, 2019-04, p.1-11
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ReportsFull Text
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
Author / Creator:Selvanathan, Arthavan ; Kinsella, Jane ; Moore, Francesca ; Wynn, Robert ; Jones, Simon ; Shaw, Peter J ; Wilcken, Bridget ; Bhattacharya, Kaustuv
Journal title:JIMD reports, 2021, Vol.61 (1), p.3-11
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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

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Diagnosis and management of children with McArdle Syndrome ( GSD V) in New South Wales

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3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

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Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

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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

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N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

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CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer

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Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

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Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

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User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia

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Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

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