By Associate Professor Kaustuv Bhattacharya

Journal articles

Derks TGJ; Overduin RJ; Grünert SC; Rossi A; de Oliveira BM; Park JH; Weinstein D; De Leon DD; Landau YE; La Rosa A; Cohen D; Schumann A; Kwun AKM; Kang Y; de Boer F; Clemente M; Smith WE; Breilyn MS; Riba-Wolman R; Loechner K; Mount M; Mitchell J; Vergano S; Rosenbaum-Fabian S; King S; Ferrecchia I; Bhattacharya K; Rodriguez-Buritica DF; Ross K; Skouma A; Lund AM; Robinson E; Hessenthaler C; Corcoran E; Tonon T; Karall D; Sliwoski L; Steuerwald U; Mohand PP; Sallago JB; Maldonado NL; Bethel R; Boyer M; Fazio T; Gragnaniello V; Couce ML; Falanga C; Groselj U; Rawls-Castillo B; Olivares-Sandoval Z; Moura de Souza CF; Scholl-Buergi S; Madeo A; Hennermann JB; Venegas E; Maiorana A; Haas D; Weil B; Thimm E; Shtylla A; Opladen T; Scherer T; Bourque DK; Preci T; Hochuli M; Casswall T; Crushell E; Kaur S; Zsidegh P; Lapatto R; Gautschi M; Möslinger D; Witters P; Stachelhaus-Theimer U; Tomberlin F; Torkar AD; Procopio E; Matos LD; Wortmann S; Neugebauer J; Rink T; Weinhold N; Vijay S; Engen K; Nuoffer JM; Haijer-Schreuder A; Freisinger P; Williams M; Janeiro P; Parnarauskienė J; Kasapkara ÇS; Olmos MAM; El-Gharbawy A; Saavedra H; Longo N; Apodaca MR; Bijarnia-Mahay S; Tümer L, 2025, 'State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases', Journal of Inherited Metabolic Disease, 48, http://dx.doi.org/10.1002/jimd.70040

Sandelowsky SA; McEwen A; Russell J; Boggs K; Junek R; Ellaway C; Selvanathan A; Farrar MA; Bhattacharya K, 2025, 'An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.', Int J Neonatal Screen, 11, http://dx.doi.org/10.3390/ijns11020032

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

Bhattacharya K; Pontin J; Thompson S, 2016, 'Dietary management of the ketogenic glycogen storage diseases', Journal of Inborn Errors of Metabolism and Screening, 4, http://dx.doi.org/10.1177/2326409816661359

Berrier KL; Kazi ZB; Prater SN; Bali DS; Goldstein J; Stefanescu MC; Rehder CW; Botha EG; Ellaway C; Bhattacharya K; Tylki-Szymanska A; Karabul N; Rosenburg AS; Kishnani PS, 2015, 'CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy', Genetics in Medicine, 17, pp. 912 - 918, http://dx.doi.org/10.1038/gim.2015.6

Bhattacharya K, 2015, 'Where will genetic research take us?', TRANSLATIONAL PEDIATRICS, 4, pp. 318 - 319, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.10.09

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