2013

• Tchan, M., Westbrook, M., Wilcox, G., Cutler, R., Smith, N., Penman, R., Strauss, B., Wilcken, B. (2013), The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients. JIMD Reports. 10, 113-117. [Abstract]
• Tchan, M., Wilcken, B., Christodoulou, J. (2013), The mild form of menkes disease: a 34 year progress report on the original case. JIMD Reports. 9, 81-84. [Abstract]

2012

• Grünert, S., Stucki, M., Morscher, R., Suormala, T., Bürer, C., Burda, P., Christensen, E., Ficicioglu, C., Herwig, J., Kölker, S., Möslinger, D., Pasquini, E., Santer, R., Schwab, K., Wilcken, B., Fowler, B., Yue, W., Baumgartner, M. (2012), 3-Methylcrotonyl-CoA Carboxylase Deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases. 7(1), 31. [Abstract]
• Bennett, M., Rinaldo, P., Wilcken, B., Pass, K., Watson, M., Wanders, R. (2012), Newborn Screening for Metabolic Disorders: How Are We Doing, and Where Are We Going?. Clinical Chemistry. 58(2), 324-331. [Abstract]
• Wilcken, B. (2012), Leukoencephalopathies associated with disorders of cobalamin and folate metabolism. Seminars in Neurology. 32(1), 68-74. [Abstract]
• Wilcken, B. (2012), Screening for disease in the newborn: the evidence base for blood-spot screening. Pathology. 44(2), 73-9. [Abstract]
• Fletcher, J., Wilcken, B. (2012), Neonatal screening for lysosomal storage disorders. Lancet. 379(9813), 294-295. [Abstract]
• Wilson, C., Kerruish, N., Wilcken, B., Wiltshire, E., Bendikson, K., Webster, D. (2012), Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009. New Zealand Medical Journal. 125(1348), 42-50. [Abstract]
• Wilcken, B. (2012), Clinical practice and the development of evidence. Journal of inherited metabolic disease. 35(1), 3-4. [Abstract]
• Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012), Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. In: JIMD Reports - Case and Research Reports, 2012/2. (pp.1-6).Germany: Springer.

2011

• Gaskin, K., Wilcken, B. (2011), Long-term outcomes for patients with cystic fibrosis in Australia. The Medical journal of Australia. 195(7), 370-1. [Abstract]
• Alodaib, A., Carpenter, K., Wiley, V., Sim, K., Christodoulou, J., Wilcken, B. (2011), An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples. Annals of clinical biochemistry. 48(5), 468-70. [Abstract]
• Wilcken, B. (2011), Ethical issues in genetics. Journal of Paediatrics and Child Health. 47(9), 668-671. [Abstract]
• Bijarnia, S., Wilcken, B., Wiley, V. (2011), Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test. Journal of inherited metabolic disease. 34(3), 827-33. [Abstract]
• Wilcken, B. (2011), Newborn screening: how are we travelling, and where should we be going?. Journal of inherited metabolic disease. 34(3), 569-74. [Abstract]
• Kölker, S., Christensen, E., Leonard, J., Greenberg, C., Boneh, A., Burlina, A., Burlina, A., Dixon, M., Duran, M., García Cazorla, A., Goodman, S., Koeller, D., Kyllerman, M., Mühlhausen, C., Müller, E., Okun, J., Wilcken, B., Hoffmann, G., Burgard, P. (2011), Diagnosis and management of glutaric aciduria type I - revised recommendations. Journal of Inherited Metabolic Disease. 34(3), 677-694. [Abstract]
• McHugh, D., Cameron, C., Abdenur, J., Abdulrahman, M., Adair, O., Al Nuaimi, S., Åhlman, H., Allen, J., Antonozzi, I., Archer, S., Au, S., Auray-Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, G., Berberich, S., Binard, R., Boemer, F., Bonham, J., Breen, N., Bryant, S., Caggana, M., Caldwell, S., Camilot, M., Campbell, C., Carducci, C., Bryant, S., Caggana, M., Caldwell, S., Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, A., Ramos, D., Chakraborty, P., Chandrasekar, R., Ramos, A., Cheillan, D., Chien, Y., Childs, T., Chrastina, P., Sica, Y., de Juan, J., Colandre, M., Espinoza, V., Corso, G., Currier, R., Cyr, D., Czuczy, N., D'Apolito, O., Davis, T., de Sain-Van der Velden, M., Delgado Pecellin, C., Di Gangi, I., Di Stefano, C., Dotsikas, Y., Downing, M., Downs, S., Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, B., El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, K., Fisher, L., Franzson, L., Frazier, D., Garcia, L., Bermejo, M., Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Y., Greed, L., Grier, R., Grycki, E., Gu, X., Gulamali-Majid, F., Hagar, A., Han, L., Hannon, W., Haslip, C., Hassan, F., He, M., Hietala, A., Himstedt, L., Hoffman, G., Hoffman, W., Hoggatt, P., Hopkins, P., Hougaard, D., Hughes, K., Hunt, P., Hwu, W., Hynes, J., Ibarra-González, I., Ingham, C., Ivanova, M., Jacox, W., John, C., Johnson, J., Jónsson, J., Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kozich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., la Marca, G., Lavochkin, M., Lee, S., Lehotay, D., Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd-Puryear, M., Lorey, F., Loukas, Y., Luedtke, J., Maffitt, N., Magee, J., Manning, A., Manos, S., Marie, S., Hadachi, S., Marquardt, G., Martin, S., Matern, D., Mayfield Gibson, S., Mayne, P., McCallister, T., McCann, M., McClure, J., McGill, J., McKeever, C., McNeilly, B., Morrissey, M., Moutsatsou, P., Mulcahy, E., Nikoloudis, D., Norgaard-Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, S., Park, H., Pasquali, M., Pasquini, E., Patel, P., Pass, K., Peterson, C., Pettersen, R., Pitt, J., Poh, S., Pollak, A., Porter, C., Poston, P., Price, R., Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, J., Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, J., Roberts, A., Rocha, H., Roche, G., Greenberg, C., Mellado, J., Juan-Fita, M., Ruiz, C., Ruoppolo, M., Rutledge, S., Ryu, E., Saban, C., Sahai, I., García-Blanco, M., Santiago-Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, M., Seeterlin, M., Sesser, D., Sevier, D., Shone, S., Sinclair, G., Skrinska, V., Stanley, E., Strovel, E., Jones, A., Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, J., Tomashitis, K., Domingos, M., Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, A., Vallance, H., Vela-Amieva, M., Vilarinho, L., von Döbeln, U., Vincent, M., Vorster, B., Watson, M., Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, S., Willis, S., Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M., Zakowicz, W. (2011), Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genetics in Medicine. 13(3), 230-254. [Abstract]
• Wilcken, B., Wiley, V. (2011), Increased iodine deficiency in Victoria, Australia: analysis of neonatal thyroid-stimulating hormone data, 2001 to 2006. The Medical Journal of Australia. , 209-210. [Abstract]

2010

• Wilcken, B. (2010), Fatty acid oxidation disorders: outcome and long-term prognosis. Journal of inherited metabolic disease. 33(5), 501-6. [Abstract]
• Wilcken, B. (2010), Expanded newborn screening: reducing harm, assessing benefit. Journal of inherited metabolic disease. 33, S205-10. [Abstract]
• Wortmann, S., Kremer, B., Graham, A., Willemsen, M., Loupatty, F., Hogg, S., Engelke, U., Kluijtmans, L., Wanders, R., Illsinger, S., Wilcken, B., Cruysberg, J., Das, A., Morava, E., Wevers, R. (2010), 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 75(12), 1079-1083. [Abstract]
• Willemsen, M., Verbeek, M., Kamsteeg, E., de Rijk-van Andel, J., Aeby, A., Blau, N., Burlina, A., Donati, M., Geurtz, B., Grattan-Smith, P., Haeussler, M., Hoffmann, G., Jung, H., de Klerk, J., van der Knaap, M., Kok, F., Leuzzi, V., de Lonlay, P., Megarbane, A., Monaghan, H., Renier, W., Rondot, P., Ryan, M., Seeger, J., Smeitink, J., Steenbergen-Spanjers, G., Wassmer, E., Weschke, B., Wijburg, F., Wilcken, B., Zafeiriou, D., Wevers, R. (2010), Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain : a journal of neurology. 133(6), 1810-22. [Abstract]
• Khalid, J., Oerton, J., Besley, G., Dalton, N., Downing, M., Green, A., Henderson, M., Krywawych, S., Wiley, V., Wilcken, B., Dezateux, C. (2010), Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency. Clinical chemistry. 56(6), 1015-21. [Abstract]
• Warne, G., Armstrong, K., Faunce, T., Wilcken, B., Boneh, A., Geelhoed, E., Craig, M. (2010), The case for newborn screening for congenital adrenal hyperplasia in Australia. The Medical Journal of Australia. , 107. [Abstract]
• Balasubramaniam, S., Rudduck, C., Bennetts, B., Peters, G., Wilcken, B., Ellaway, C. (2010), Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. Molecular genetics and metabolism. 99(1), 34-41. [Abstract]
• Spiekerkoetter, U., Bastin, J., Gillingham, M., Morris, A., Wijburg, F., Wilcken, B. (2010), Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. Journal of Inherited Metabolic Disease. 33(5), 555-561. [Abstract]

2009

• Wilcken, B. (2009), Cystic fibrosis: refining the approach to newborn screening. The Journal of Pediatrics. 155, 605-606. [Abstract]
• Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., Kirk, E., Lewis, B., McGill, J., Peters, H., Pitt, J., Ranieri, E., Yaplito-Lee, J., Boneh, A. (2009), Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics. 124(2), e241-e248. [Abstract]
• Cunningham, S., Spinoulas, A., Carpenter, K., Wilcken, B., Kuchel, P., Alexander, I. (2009), AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice. Molecular therapy : the journal of the American Society of Gene Therapy. 17(8), 1340-6. [Abstract]
• Castellani, C., Southern, K., Brownlee, K., Dankert Roelse, J., Duff, A., Farrell, M., Mehta, A., Munck, A., Pollitt, R., Sermet-Gaudelus, I., Wilcken, B., Ballmann, M., Corbetta, C., de Monestrol, I., Farrell, P., Feilcke, M., Férec, C., Gartner, S., Gaskin, K., Hammermann, J., Kashirskaya, N., Loeber, G., Macek, M., Mehta, G., Reiman, A., Rizzotti, P., Sammon, A., Sands, D., Smyth, A., Sommerburg, O., Torresani, T., Travert, G., Vernooij, A., Elborn, S. (2009), European best practice guidelines for cystic fibrosis neonatal screening. Journal of Cystic Fibrosis. 8(3), 153-173. [Abstract]
• Norman, R., Haas, M., Wilcken, B. (2009), International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions. Health policy (Amsterdam, Netherlands). 89(0), 252-60. [Abstract]
• Norman, R., Haas, M., Chaplin, M., Joy, P., Wilcken, B. (2009), Economic evaluation of tandem mass spectrometry newborn screening in Australia. Pediatrics. 123(2), 451-457. [Abstract]
• Joy, P., Black, C., Rocca, A., Haas, M., Wilcken, B. (2009), Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): The impact of early diagnosis and screening on outcome. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 15(1), 8-20. [Abstract]

2008

• Wilcken, B. (2008), Disorders of the carnitine cycle and detection by newborn screening. Annals of the Academy of Medicine, Singapore. 37(12 Suppl), 71-73. [Abstract]
• Wilcken, B. (2008), Improving child health--newborn screening for all?. Annals of the Academy of Medicine, Singapore. 37(12 Suppl), 3. [Abstract]
• Wilcken, B. (2008), Newborn screening for all identifiable disorders with tandem mass spectrometry is cost effective: the negative case. Annals of the Academy of Medicine, Singapore. 37(12 Suppl), 36-33. [Abstract]
• McKay, K., Wilcken, B. (2008), Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for. Paediatric Respiratory Reviews. 9(4), 290-294. [Abstract]
• Gleeson, H., Wiley, V., Wilcken, B., Elliott, E., Cowell, C., Thonsett, M., Byrne, G., Ambler, G. (2008), Two-year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia. Journal of Paediatrics and Child Health. 44(10), 554-559. [Abstract]
• Bijarnia, S., Wiley, V., Carpenter, K., Christodoulou, J., Ellaway, C., Wilcken, B. (2008), Glutaric aciduria type I: outcome following detection by newborn screening. Journal of inherited metabolic disease. 31(4), 503-7. [Abstract]
• Hackett, A., Gillard, J., Wilcken, B. (2008), n of 1 trial for an ornithine transcarbamylase deficiency carrier. Molecular Genetics and Metabolism. 94(2), 157-161. [Abstract]
• Wilcken, B. (2008), Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis. Journal of paediatrics and child health. , 232-233; author reply 233. [Abstract]
• Wilcken, B. (2008), The consequences of extended newborn screening programmes: Do we know who needs treatment?. Journal of Inherited Metabolic Disease. 0(0), 0. [Abstract]
• Wilcken, B. (2008), More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. The New England journal of medicine. , 647; author reply 647. [Abstract]
• Wilcken, B., Wiley, V. (2008), Newborn screening. Pathology. 40(2), 104-115. [Abstract]

2007

• Chiong, M., Procopis, P., Carpenter, K., Wilcken, B. (2007), Late-Onset Nonketotic Hyperglycinemia With Leukodystrophy and an Unusual Clinical Course. Pediatric neurology. 37(4), 283-286. [Abstract]
• Cipolli, M., Castellani, C., Wilcken, B., Massie, J., McKay, K., Gruca, M., Tamanini, A., Assael, M., Gaskin, K. (2007), Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening. Archives of disease in childhood. 92(10), 842-846. [Abstract]
• Haas, M., Chaplin, M., Joy, P., Wiley, V., Black, C., Wilcken, B. (2007), Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening. The Journal of pediatrics. 151(2), 121-126, 126.e1. [Abstract]
• Wilcken, B. (2007), Newborn screening for cystic fibrosis: Techniques and strategies. Journal of inherited metabolic disease. 30(4), 537-43. [Abstract]
• Cliffe, S., Wong, M., Taylor, P., Ruga, E., Wilcken, B., Lindeman, R., Buckley, M., Roscioli, T. (2007), The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. Prenatal diagnosis. 27(7), 674-676. [Abstract]
• Schindeler, S., Ghosh-Jerath, S., Thompson, S., Rocca, A., Joy, P., Kemp, A., Rae, C., Green, K., Wilcken, B., Christodoulou, J. (2007), The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Molecular genetics and metabolism. 91(1), 48-54. [Abstract]
• Chiong, M., Bennetts, B., Strasser, S., Wilcken, B. (2007), Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery. The Medical journal of Australia. 186(8), 418-9. [Abstract]
• Wilcken, B., Gaskin, K. (2007), More evidence to favour newborn screening for cystic fibrosis. Lancet. 369(9568), 1146-1147. [Abstract]
• Wilcken, B. (2007), Recent advances in newborn screening. Journal of inherited metabolic disease. 30(2), 129-133. [Abstract]
• Tan, E., Wiley, V., Carpenter, K., Wilcken, B. (2007), Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Molecular genetics and metabolism. 90(4), 446-448. [Abstract]
• Vyletal, P., Sokolová, J., Cooper, D., Kraus, J., Krawczak, M., Pepe, G., Rickards, O., Koch, H., Linnebank, M., Kluijtmans, L., Blom, H., Boers, G., Gaustadnes, M., Skovby, F., Wilcken, B., Wilcken, D., Andria, G., Sebastio, G., Naughten, E., Yap, S., Ohura, T., Pronicka, E., Laszlo, A., Kozich, V. (2007), Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Human mutation. 28(3), 255-264. [Abstract]
• Kölker, S., Christensen, E., Leonard, J., Greenberg, C., Burlina, A., Burlina, A., Dixon, M., Duran, M., Goodman, S., Koeller, D., Müller, E., Naughten, E., Neumaier-Probst, E., Okun, J., Kyllerman, M., Surtees, R., Wilcken, B., Hoffmann, G., Burgard, P. (2007), Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Journal of inherited metabolic disease. 30(1), 5-22. [Abstract]
• Wilcken, B., Haas, M., Joy, P., Wiley, V., Chaplin, M., Black, C., Fletcher, J., McGill, J., Boneh, A. (2007), Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet. 369(9555), 37-42. [Abstract]
• Wilson, C., Kerruish, N., Wilcken, B., Wiltshire, E., Webster, D. (2007), The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening. The New Zealand medical journal. 120(1262), U2727-U2727. [Abstract]