2024

• Kariyawasam, D., Scarfe, J., Meagher, C., Farrar, M., Bhattacharya, K., Carter, S., Newson, A., 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(3), e0299336. [More Information]

2023

• Djafar, J., Smith, N., Johnson, A., Bhattacharya, K., Ardern-Holmes, S., Ellaway, C., Dale, R., D'silva, A., Kariyawasam, D., Grattan, S., et al (2023). Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers. Pediatric Neurology, 149, 75-83. [More Information]
• Nevin, S., McGill, B., Kelada, L., Hilton, G., Maack, M., Elvidge, K., Farrar, M., Baynam, G., Katz, N., Donovan, L., Bhattacharya, K., et al (2023). The psychosocial impact of childhood dementia on children and their parents: a systematic review. Orphanet Journal of Rare Diseases, 18(1). [More Information]
• Thompson, S., Hertzog, A., Selvanathan, A., Batten, K., Lewis, K., Nisbet, J., Mitchell, A., Dalkeith, T., Billmore, K., Moore, F., Tolun, A., Devanapalli, B., Rahman, Y., Tchan, M., Bhattacharya, K., et al (2023). Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases. Nutrients, 15(3). [More Information]

2022

• Hertzog, A., Selvanathan, A., Pandithan, D., Kim, W., Kava, M., Boneh, A., Coman, D., Tolun, A., Bhattacharya, K. (2022). 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis. JIMD Reports, 63(6), 568-574. [More Information]
• Hertzog, A., Selvanathan, A., Devanapalli, B., Ho, G., Bhattacharya, K., Tolun, A. (2022). A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism. Translational Pediatrics, 11(10), 1704-1716. [More Information]
• Hertzog, A., Selvanathan, A., Halligan, R., Fazio, T., de Jong, G., Bratkovic, D., Bhattacharya, K., Tolun, A., 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(4), 271-275. [More Information]
• Rius, R., Bennett, N., Bhattacharya, K., Riley, L., Yüksel, Z., Formosa, L., Compton, A., Dale, R., Cowley, M., Gayevskiy, V., Christodoulou, J., et al (2022). Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. Human Mutation, 43(12), 1970-1978. [More Information]
• Riley, L., Nafisinia, M., Menezes, M., Nambiar, R., Williams, A., Barnes, E., Selvanathan, A., Lichkus, K., Bratkovic, D., Yaplito-Lee, J., Bhattacharya, K., Ellaway, C., Balasubramaniam, S., Christodoulou, J., et al (2022). FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children. Molecular Genetics and Metabolism, 135(1), 63-71. [More Information]
• Hertzog, A., Selvanathan, A., Farnsworth, E., Tchan, M., Adams, L., Lewis, K., Tolun, A., Bennetts, B., Ho, G., Bhattacharya, K. (2022). Intronic variants in inborn errors of metabolism: Beyond the exome. Frontiers in Genetics, 13. [More Information]

2021

• Selvanathan, A., Kinsella, J., Moore, F., Wynn, R., Jones, S., Shaw, P., Wilcken, B., Bhattacharya, K. (2021). Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series. JIMD Reports, 61(1), 3-11. [More Information]
• Frazier, A., Compton, A., Kishita, Y., Hock, D., Welch, A., Amarasekera, S., Rius, R., Formosa, L., Imai-Okazaki, S., Francis, D., Ellaway, C., Bhattacharya, K., Rodriguez, M., Christodoulou, J., et al (2021). Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med, 2(1), 49-73. [More Information]
• Parayil Sankaran, B., 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(1), 465. [More Information]
• Graves, L., Stewart, K., Ambler, G., Bhattacharya, K., Srinivasan, S. (2021). Investigating paediatric hypoglycaemia: Dynamic studies at a tertiary paediatric hospital. Journal of Paediatrics and Child Health, 57(6), 888-893. [More Information]
• 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(1), 88-95. [More Information]
• Ryder, B., Inbar-Feigenberg, M., Glamuzina, E., Halligan, R., Vara, R., Elliot, A., Coman, D., Minto, T., Lewis, K., Schiff, M., Thompson, S., Bhattacharya, K., et al (2021). New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. Journal of Inherited Metabolic Disease, 44(4), 903-915. [More Information]
• Hertzog, A., Selvanathan, A., Tolun, A., Parayil Sankaran, B., Bhattacharya, K. (2021). Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism. Journal of Paediatrics and Child Health, 57(10), 1703-1706. [More Information]
• 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(6), 778-781. [More Information]

2020

• van Rijt, W., Jager, E., Allersma, D., Aktu?lu Zeybek, A., Bhattacharya, K., Debray, F., Ellaway, C., Gautschi, M., Geraghty, M., Gil-Ortega, D., Tchan, M., et al (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in Medicine, 22(5), 908-916. [More Information]
• Mohammad, S., Angiti, R., Biggin, A., Morales-Briceno, H., Goetti, R., Perez-Duenas, B., Gregory, A., Hogarth, P., Ng, J., Papandreou, A., Bhattacharya, K., Prelog, K., Dale, R., et al (2020). Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. Brain Communications, 2(2), fcaa178. [More Information]
• Baynam, G., Wicking, C., Bhattacharya, K., Millis, N. (2020). Protecting the rare during a rare pandemic. Medical Journal of Australia, 213(2), 94-9.40E+02. [More Information]
• Bhattacharya, K., Balasubramaniam, S., Murray, K., Peters, H., Ketteridge, D., Inwood, A., Lee, J., Ellaway, C., Owens, P., Wong, M., et al (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. [More Information]
• Riley, L., Cowley, M., Gayevskiy, V., Minoche, A., Puttick, C., Thorburn, D., Rius, R., Compton, A., Menezes, M., Bhattacharya, K., Ellaway, C., Alexander, I., Adams, L., Balasubramaniam, S., Christodoulou, J., et al (2020). The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genetics in Medicine, 22(7), 1254-1261. [More Information]
• Bhattacharya, K., Matar, W., Tolun, A., 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(1), 53. [More Information]

2019

• Muntau, A., Adams, D., Bélanger-Quintana, A., Bushueva, T., Cerone, R., Chien, Y., Chiesa, A., Coşkuń, T., de las Heras, J., Feillet, F., Bhattacharya, K., et al (2019). International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Molecular Genetics and Metabolism, 127(1), 1-11. [More Information]
• Blommaert, E., Peanne, R., Cherepanova, N., Rymen, D., Staels, F., Jaeken, J., Race, V., Keldermans, L., Souche, E., Corveleyn, A., Bhattacharya, K., et al (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(20), 9865-9870. [More Information]

2018

• Selvanathan, A., Ellaway, C., Wilson, C., Owens, P., Shaw, P., Bhattacharya, K. (2018). Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series. JIMD Reports, 41, 81-89. [More Information]
• 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(11), 1255-1261. [More Information]

2017

• Nafisinia, M., Riley, L., Gold, W., Bhattacharya, K., Broderick, C., Thorburn, D., Simons, C., Christodoulou, J. (2017). Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. PloS One, 12(6), 1-12. [More Information]
• 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(1), 1-11. [More Information]
• Korula, S., Owens, P., Charlton, A., Bhattacharya, K. (2017). Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy. JIMD Reports, 32, 101-104. [More Information]

2016

• Montano, A., Lock-Hock, N., Steiner, R., Graham, B., Szlago, M., Greenstein, R., Pineda, M., Gonzalez-Meneses, A., Coker, M., Bhattacharya, K., et al (2016). Clinical course of sly syndrome (mucopolysaccharidosis type VII). Journal of Medical Genetics, 53(6), 403-418. [More Information]
• Bhattacharya, K., Pontin, J., Thompson, S. (2016). Dietary Management of the Ketogenic Glycogen Storage Diseases. Journal of Inborn Errors of Metabolism and Screening, 4, 1-6. [More Information]
• Menezes, M., Rahman, S., Bhattacharya, K., Clark, D., Christodoulou, J., Ellaway, C., Farrar, M., Pitt, M., Sampaio, H., Ware, T., Ouvrier, R., et al (2016). Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. Mitochondrion, 30, 162-167. [More Information]

2015

• Bhattacharya, K., Mundy, H., Lilburn, M., Champion, M., Morley, D., Maillot, F. (2015). A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: A randomized double-blind cross-over study. Orphanet Journal of Rare Diseases, 10(1), 1-11. [More Information]
• Berrier, K., Kazi, Z., Prater, S., Bali, D., Goldstein, J., Stefanescu, M., Rehder, C., Botha, E., Ellaway, C., Bhattacharya, K., et al (2015). CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Genetics in Medicine, 17(11), 912-918. [More Information]
• Choy, Y., Bhattacharya, K., Balasubramaniam, S., Fietz, M., Fu, A., Inwood, A., Jin, D., Kim, O., Kosuga, M., Kwun, Y., et al (2015). Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). Molecular Genetics and Metabolism, 115(1), 41-47. [More Information]
• Bhattacharya, K. (2015). Investigation and management of the hepatic glycogen storage diseases. Translational Pediatrics, 4(3), 240-248. [More Information]
• Bhattacharya, K. (2015). Where will genetic research take us? Translational Pediatrics, 4(4), 318-319. [More Information]

2014

• Estrella, J., Wilcken, B., Carpenter, K., Bhattacharya, K., Tchan, M., Wiley, V. (2014). Expanded newborn screening in New South Wales: missed cases. Journal of Inherited Metabolic Disease, 37(6), 881-887. [More Information]
• 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. JIMD Reports, 14, 55-65. [More Information]
• Baker, P., Friederich, M., Swanson, M., Shaikh, T., Bhattacharya, K., Scharer, G., Aicher, J., Creadon-Swindell, G., Geiger, E., Maclean, K., Procopis, P., et al (2014). Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain, 137(2), 366-379. [More Information]

2012

• Coman, D., Bhattacharya, K. (2012). Extended newborn screening: An update for the general paediatrician. Journal of Paediatrics and Child Health, 48(2), E68-E72. [More Information]

2011

• Bhattacharya, K. (2011). Dietary dilemmas in the management of glycogen storage disease type I. Journal of Inherited Metabolic Disease, 34(3), 621-629. [More Information]

2010

• Dagli, A., Lee, P., Correia, C., Rodriguez, C., Bhattacharya, K., Steinkrauss, L., Stanley, C., Weinstein, D. (2010). Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. Journal of Inherited Metabolic Disease, 33(Suppl 3), S151-S157. [More Information]

2009

• Shanti, B., Silink, M., Bhattacharya, K., Howard, N., Carpenter, K., Fietz, M., Clayton, P., Christodoulou, J. (2009). Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Journal of Inherited Metabolic Disease, Short Report #166 - online, 1-11. [More Information]

2006

• Bhattacharya, K., Khalili, V., Wiley, V., Carpenter, K., Wilcken, B. (2006). Newborn screening may fail to identify intermediate forms of maple syrup urine disease. Journal of Inherited Metabolic Disease, 29(4), 586-586. [More Information]