By Associate Professor Kaustuv Bhattacharya

Book Chapters

Bhattacharya K; Moore F; Christodoulou J, 2022, 'Genetic metabolic disease', in Keeling's Fetal and Neonatal Pathology, pp. 267 - 289, http://dx.doi.org/10.1007/978-3-030-84168-3_l1

Bhattacharya K; Moore F; Christodoulou J, 2022, 'Genetic Metabolic Disease', in Keeling's Fetal and Neonatal Pathology, Springer International Publishing, pp. 267 - 289, http://dx.doi.org/10.1007/978-3-030-84168-3_11

Selvanathan A; Ellaway C; Wilson C; Owens P; Shaw PJ; Bhattacharya K, 2018, 'Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type ii: A case series', in JIMD Reports, pp. 81 - 89, http://dx.doi.org/10.1007/8904_2018_104

Bhattacharya K; Moore F; Christodoulou J, 2015, 'Genetic metabolic disease', in Keeling's Fetal and Neonatal Pathology, pp. 275 - 298, http://dx.doi.org/10.1007/978-3-319-19207-9_11

Ho G; Alexander I; Bhattacharya K; Dennison B; Ellaway C; Thompson S; Wilcken B; Christodoulou J, 2014, 'The molecular bases of phenylketonuria (PKU) in new south wales, australia: Mutation profile and correlation with tetrahydrobiopterin (BH4) Responsiveness', in JIMD Reports, pp. 55 - 65, http://dx.doi.org/10.1007/8904_2013_284

Journal articles

D'Silva A; Barnes J; Djafar J; Bhattacharya K; Yan J; Mohammad S; Bandodkar S; Johnson A; Tchan M; Miteff C; Elvidge KL; Dale RC; Farrar M, 2025, 'Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials', Neurotherapeutics, 22, http://dx.doi.org/10.1016/j.neurot.2025.e00546

Djafar J; Nevin S; Smith N; Ardern-Holmes S; Bhattacharya K; Dale R; Ellaway C; Grattan S; Johnson A; Kandula T; Kariyawasam DS; Lewis K; Meagher CE; Mohammad S; Farrar MA, 2025, ''Fighting every day': Exploring caregiver quality of life and perspectives on healthcare services for children with dementia - A cross-sectional, mixed-methods study', Archives of Disease in Childhood, pp. archdischild-2024-328011, http://dx.doi.org/10.1136/archdischild-2024-328011

Rius R; Compton AG; Baker NL; Balasubramaniam S; Best S; Bhattacharya K; Boggs K; Boughtwood T; Braithwaite J; Bratkovic D; Bray A; Brion MJ; Burke J; Casauria S; Chong B; Coman D; Cowie S; Cowley M; de Silva MG; Delatycki MB; Edwards S; Ellaway C; Fahey MC; Finlay K; Fletcher J; Frajman LE; Frazier AE; Gayevskiy V; Ghaoui R; Goel H; Goranitis I; Haas M; Hock DH; Howting D; Jackson MR; Kava MP; Kemp M; King-Smith S; Lake NJ; Lamont PJ; Lee J; Long JC; MacShane M; Madelli EO; Martin EM; Marum JE; Mattiske T; McGill J; Metke A; Murray S; Panetta J; Phillips LK; Quinn MCJ; Ryan MT; Schenscher S; Simons C; Smith N; Stroud DA; Tchan MC; Tom M; Wallis M; Ware TL; Welch AME; Wools C; Wu Y; Christodoulou J; Thorburn DR, 2025, 'The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses', Genetics in Medicine, 27, http://dx.doi.org/10.1016/j.gim.2024.101271

Nevin SM; Le Marne FA; Beavis E; Macintosh R; Palmer EE; Sachdev R; Nunn K; Bye A; van Beek A; Wittekind C; Shalhoub C; Lau CYY; Elliot C; Rogers D; Wijetilaka D; Argent E; Cotterell E; Jacobson EE; McCarthy H; Sampaio H; Dalby-Payne J; Ging J; Doyle K; Bhattacharya K; Stark K; Lorentzos M; Slade R; Evans R; Pillai S; Mohammad S; Piper S; Sarkozy V, 2024, 'Psychosocial experiences of clinicians providing care for children with severe neurological impairment', Developmental Medicine and Child Neurology, 66, pp. 1622 - 1631, http://dx.doi.org/10.1111/dmcn.15987

Heather N; Greaves RF; Bhattacharya K; Greed L; Pitt J; Siu CWK; de Hora M; Price R; Ranieri E; Wotton T; Webster D, 2024, 'Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand', International Journal of Neonatal Screening, 10, http://dx.doi.org/10.3390/ijns10030047

Kariyawasam DS; Scarfe J; Meagher C; Farrar MA; Bhattacharya K; Carter SM; Newson AJ; Otlowski M; Watson J; Millis N; Norris S, 2024, '‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives', PLoS ONE, 19, pp. 1 - 13, http://dx.doi.org/10.1371/journal.pone.0299336

Djafar JV; Smith NJ; Johnson AM; Bhattacharya K; Ardern-Holmes SL; Ellaway C; Dale RC; D'Silva AM; Kariyawasam DS; Grattan S; Kandula T; Lewis K; Mohammed SS; Farrar MA, 2023, 'Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers', Pediatric Neurology, 149, pp. 75 - 83, http://dx.doi.org/10.1016/j.pediatrneurol.2023.09.006

Nevin SM; McGill BC; Kelada L; Hilton G; Maack M; Elvidge KL; Farrar MA; Baynam G; Katz NT; Donovan L; Grattan S; Signorelli C; Bhattacharya K; Nunn K; Wakefield CE, 2023, 'The psychosocial impact of childhood dementia on children and their parents: a systematic review', Orphanet Journal of Rare Diseases, 18, http://dx.doi.org/10.1186/s13023-023-02859-3

Ji C; Farrar MA; Norris S; Bhattacharya K; Bennetts B; Newson AJ; Healy L; Millis N; Kariyawasam DS, 2023, 'The Australian landscape of newborn screening in the genomics era', Rare Disease and Orphan Drugs Journal, 2, http://dx.doi.org/10.20517/rdodj.2023.30

Adams L; Selvanathan A; Batten KJ; van Doorn N; Thompson S; Mitchell A; Sampaio H; Dalkeith T; Russell J; Ellaway CJ; Farrar M; Broderick C; Bhattacharya K, 2023, 'Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales', JIMD Reports, 64, pp. 327 - 336, http://dx.doi.org/10.1002/jmd2.12389

Batten K; Bhattacharya K; Simar D; Broderick C, 2023, 'Exercise testing and prescription in patients with inborn errors of muscle energy metabolism', Journal of Inherited Metabolic Disease, 46, pp. 763 - 777, http://dx.doi.org/10.1002/jimd.12644

Cunningham SC; Van Dijk EB; Zhu E; Sugden M; Mandwie M; Siew S; Devanapalli B; Tolun AA; Klein A; Wilson L; Aryamanesh N; Gissen P; Baruteau J; Bhattacharya K; Alexander IE, 2023, 'Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies', Human Gene Therapy, 34, pp. 917 - 926, http://dx.doi.org/10.1089/hum.2023.011

Selvanathan A; Forwood C; Russell J; Batten K; Thompson S; Palmer EE; Macintosh R; Nightingale S; Mitchell R; Alvaro F; Dudding‐Byth T; Lunke S; Christodoulou J; Stark Z; White F; Jones SA; Bhattacharya K, 2023, 'Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease', Pediatric Blood and Cancer, http://dx.doi.org/10.1002/pbc.30394

Thompson S; Hertzog A; Selvanathan A; Batten K; Lewis K; Nisbet J; Mitchell A; Dalkeith T; Billmore K; Moore F; Tolun AA; Devanapalli B; Bratkovic D; Hilditch C; Rahman Y; Tchan M; Bhattacharya K, 2023, 'Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases', Nutrients, 15, pp. 531, http://dx.doi.org/10.3390/nu15030531

Selvanathan A; Hertzog A; Ellaway C; Lewis K; Lichkus K; Adams L; Bhattacharya K; Tolun A, 2023, 'STANDARD BIOMARKERS DO NOT CORRELATE WITH DISEASE PROGRESSION IN CHILDHOOD-ONSET COBALAMIN C DISEASE', MOLECULAR GENETICS AND METABOLISM, 138, pp. 87 - 87, http://dx.doi.org/10.1016/j.ymgme.2023.107480

Hertzog A; Selvanathan A; Farnsworth E; Tchan M; Adams L; Lewis K; Tolun AA; Bennetts B; Ho G; Bhattacharya K, 2022, 'Intronic variants in inborn errors of metabolism: Beyond the exome', Frontiers in Genetics, 13, http://dx.doi.org/10.3389/fgene.2022.1031495

Rius R; Bennett NK; Bhattacharya K; Riley LG; Yüksel Z; Formosa LE; Compton AG; Dale RC; Cowley MJ; Gayevskiy V; Al Tala SM; Almehery AA; Ryan MT; Thorburn DR; Nakamura K; Christodoulou J, 2022, 'Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy', Human Mutation, 43, pp. 1970 - 1978, http://dx.doi.org/10.1002/humu.24453

Hertzog A; Selvanathan A; Pandithan D; Kim WT; Kava MP; Boneh A; Coman D; Tolun AA; Bhattacharya K, 2022, '3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis', JIMD Reports, 63, pp. 568 - 574, http://dx.doi.org/10.1002/jmd2.12332

Hertzog A; Selvanathan A; Devanapalli B; Ho G; Bhattacharya K; Tolun AA, 2022, 'A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism', Translational Pediatrics, 11, pp. 1704 - 1716, http://dx.doi.org/10.21037/tp-22-105

Mitchell JJ; Burton BK; Bober MB; Campeau PM; Cohen S; Dosenovic S; Ellaway C; Bhattacharya K; Guffon N; Hinds D; Lail A; Lin SP; Magner M; Raiman J; Schwartz-Sagi L; Stepien KM, 2022, 'Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa', Molecular Genetics and Metabolism, 137, pp. 164 - 172, http://dx.doi.org/10.1016/j.ymgme.2022.08.007

Bhattacharya K, 2022, 'International Congress of Inborn Errors of Metabolism (ICIEM) Sydney 2021', Journal of Inherited Metabolic Disease, 45, pp. 863, http://dx.doi.org/10.1002/jimd.12539

Hertzog A; Selvanathan A; Halligan R; Fazio T; de Jong G; Bratkovic D; Bhattacharya K; Tolun AA; Bennetts B; Fisk K, 2022, 'A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency', JIMD Reports, 63, pp. 271 - 275, http://dx.doi.org/10.1002/jmd2.12289

Riley LG; Nafisinia M; Menezes MJ; Nambiar R; Williams A; Barnes EH; Selvanathan A; Lichkus K; Bratkovic D; Yaplito-Lee J; Bhattacharya K; Ellaway C; Kava M; Balasubramaniam S; Christodoulou J, 2022, 'FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children', Molecular Genetics and Metabolism, 135, pp. 63 - 71, http://dx.doi.org/10.1016/j.ymgme.2021.12.001

Sankaran BP; Gupta S; Tchan M; Devanapalli B; Rahman Y; Procopis P; Bhattacharya K, 2021, 'GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome', Orphanet Journal of Rare Diseases, 16, http://dx.doi.org/10.1186/s13023-021-02073-z

Hertzog A; Selvanathan A; Tolun AA; Parayil Sankaran B; Bhattacharya K, 2021, 'Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism', Journal of Paediatrics and Child Health, 57, pp. 1703 - 1706, http://dx.doi.org/10.1111/jpc.15365

Elserafy N; Thompson S; Dalkeith T; Stormon M; Thomas G; Shun A; Sawyer J; Balasubramanian S; Bhattacharya K; Badawi N; Ellaway C, 2021, 'Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia', JIMD Reports, 60, pp. 88 - 95, http://dx.doi.org/10.1002/jmd2.12219

Ryder B; Inbar-Feigenberg M; Glamuzina E; Halligan R; Vara R; Elliot A; Coman D; Minto T; Lewis K; Schiff M; Vijay S; Akroyd R; Thompson S; MacDonald A; Woodward AJM; Gribben JEL; Grunewald S; Belaramani K; Hall M; van der Haak N; Devanapalli B; Tolun AA; Wilson C; Bhattacharya K, 2021, 'New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches', Journal of Inherited Metabolic Disease, 44, pp. 903 - 915, http://dx.doi.org/10.1002/jimd.12371

Graves LE; Stewart K; Ambler GR; Bhattacharya K; Srinivasan S, 2021, 'Investigating paediatric hypoglycaemia: Dynamic studies at a tertiary paediatric hospital', Journal of Paediatrics and Child Health, 57, pp. 888 - 893, http://dx.doi.org/10.1111/jpc.15349

Bhattacharya K; Millis N; Jaffe A; Zurynski Y, 2021, 'Rare diseases research and policy in Australia: On the journey to equitable care', Journal of Paediatrics and Child Health, 57, pp. 778 - 781, http://dx.doi.org/10.1111/jpc.15507

Frazier AE; Compton AG; Kishita Y; Hock DH; Welch AME; Amarasekera SSC; Rius R; Formosa LE; Imai-Okazaki A; Francis D; Wang M; Lake NJ; Tregoning S; Jabbari JS; Lucattini A; Nitta KR; Ohtake A; Murayama K; Amor DJ; McGillivray G; Wong FY; van der Knaap MS; Vermeulen RJ; Wiltshire EJ; Fletcher JM; Lewis B; Baynam G; Ellaway C; Balasubramaniam S; Bhattacharya K; Freckmann ML; Arbuckle S; Rodriguez M; Taft RJ; Sadedin S; Cowley MJ; Minoche AE; Calvo SE; Mootha VK; Ryan MT; Okazaki Y; Stroud DA; Simons C; Christodoulou J; Thorburn DR, 2021, 'Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus', Med, 2, pp. 49 - 73.e10, http://dx.doi.org/10.1016/j.medj.2020.06.004

Selvanathan A; Kinsella J; Moore F; Wynn R; Jones S; Shaw PJ; Wilcken B; Bhattacharya K, 2021, 'Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series', JIMD Reports, 61, pp. 3 - 11, http://dx.doi.org/10.1002/jmd2.12222

Baynam GS; Wicking C; Bhattacharya K; Millis N, 2020, 'Protecting the rare during a rare pandemic', Medical Journal of Australia, 213, pp. 94 - 94.e1, http://dx.doi.org/10.5694/mja2.50671

Riley LG; Cowley MJ; Gayevskiy V; Minoche AE; Puttick C; Thorburn DR; Rius R; Compton AG; Menezes MJ; Bhattacharya K; Coman D; Ellaway C; Alexander IE; Adams L; Kava M; Robinson J; Sue CM; Balasubramaniam S; Christodoulou J, 2020, 'The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease', Genetics in Medicine, 22, pp. 1254 - 1261, http://dx.doi.org/10.1038/s41436-020-0793-6

van Rijt WJ; Jager EA; Allersma DP; Aktuğlu Zeybek AÇ; Bhattacharya K; Debray FG; Ellaway CJ; Gautschi M; Geraghty MT; Gil-Ortega D; Larson AA; Moore F; Morava E; Morris AA; Oishi K; Schiff M; Scholl-Bürgi S; Tchan MC; Vockley J; Witters P; Wortmann SB; van Spronsen F; Van Hove JLK; Derks TGJ, 2020, 'Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency', Genetics in Medicine, 22, pp. 908 - 916, http://dx.doi.org/10.1038/s41436-019-0739-z

Bhattacharya K; Matar W; Tolun AA; Devanapalli B; Thompson S; Dalkeith T; Lichkus K; Tchan M, 2020, 'The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders', Orphanet Journal of Rare Diseases, 15, http://dx.doi.org/10.1186/s13023-020-1316-x

Mohammad SS; Angiti RR; Biggin A; Morales-Briceño H; Goetti R; Perez-Dueñas B; Gregory A; Hogarth P; Ng J; Papandreou A; Bhattacharya K; Rahman S; Prelog K; Webster RI; Wassmer E; Hayflick S; Livingston J; Kurian M; Chong WK; Dale RC; Menezes MP; Gupta S; Troedson C; Pillai S; Tantsis E; Gill D; Ellaway C; Holmes SA; Antony J; Mankad K; Carr L; Prabhakar P; Munot P; Bhate S; Gissen P; Clayton P; Tuschl K; Simmons L; Crow Y; Dalkeith T, 2020, 'Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders', Brain Communications, 2, http://dx.doi.org/10.1093/braincomms/fcaa178

Bhattacharya K; Balasubramaniam S; Murray K; Peters H; Ketteridge D; Inwood A; Lee J; Ellaway C; Owens P; Wong M; Ly C; McGill J, 2020, 'Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio A Syndrome: A Phase 3b Study', Journal of Inborn Errors of Metabolism and Screening, 8, http://dx.doi.org/10.1590/2326-4594-JIEMS-2020-0001

Blommaert E; Péanne R; Cherepanova NA; Rymen D; Staels F; Jaeken J; Race V; Keldermans L; Souche E; Corveleyn A; Sparkes R; Bhattacharya K; Devalck C; Schrijvers R; Foulquier F; Gilmore R; Matthijs G, 2019, 'Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype', Proceedings of the National Academy of Sciences of the United States of America, 116, pp. 9865 - 9870, http://dx.doi.org/10.1073/pnas.1817815116

Muntau AC; Adams DJ; Bélanger-Quintana A; Bushueva TV; Cerone R; Chien YH; Chiesa A; Coşkun T; de las Heras J; Feillet F; Katz R; Lagler F; Piazzon F; Rohr F; van Spronsen FJ; Vargas P; Wilcox G; Bhattacharya K, 2019, 'International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria', Molecular Genetics and Metabolism, 127, pp. 1 - 11, http://dx.doi.org/10.1016/j.ymgme.2019.04.004

Owens P; Wong M; Bhattacharya K; Ellaway C, 2018, 'Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response', Journal of Paediatrics and Child Health, 54, pp. 1255 - 1261, http://dx.doi.org/10.1111/jpc.14070

Nafisinia M; Riley LG; Gold WA; Bhattacharya K; Broderick CR; Thorburn DR; Simons C; Christodoulou J, 2017, 'Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction', PLoS ONE, 12, pp. e0178125, http://dx.doi.org/10.1371/journal.pone.0178125

Schrover R; Evans K; Giugliani R; Noble I; Bhattacharya K, 2017, 'Minimal clinically important difference for the 6-min walk test: Literature review and application to Morquio A syndrome', Orphanet Journal of Rare Diseases, 12, http://dx.doi.org/10.1186/s13023-017-0633-1

Korula S; Owens P; Charlton A; Bhattacharya K, 2017, 'Rare case of hepatic gaucheroma in a child on enzyme replacement therapy', , 32, pp. 101 - 104, http://dx.doi.org/10.1007/8904_2016_562

Menezes MP; Rahman S; Bhattacharya K; Clark D; Christodoulou J; Ellaway C; Farrar M; Pitt M; Sampaio H; Ware TL; Wedatilake Y; Thorburn DR; Ryan MM; Ouvrier R, 2016, 'Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease', Mitochondrion, 30, pp. 162 - 167, http://dx.doi.org/10.1016/j.mito.2016.07.014

Montaño AM; Lock-Hock N; Steiner RD; Graham BH; Szlago M; Greenstein R; Pineda M; Gonzalez-Meneses A; çoker M; Bartholomew D; Sands MS; Wang R; Giugliani R; Macaya A; Pastores G; Ketko AK; Ezgü F; Tanaka A; Arash L; Beck M; Falk RE; Bhattacharya K; Franco J; White KK; Mitchell GA; Cimbalistiene L; Holtz M; Sly WS, 2016, 'Clinical course of sly syndrome (mucopolysaccharidosis type VII)', Journal of Medical Genetics, 53, pp. 403 - 418, http://dx.doi.org/10.1136/jmedgenet-2015-103322

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