Research publications

Alfred Health research outcomes are published in a wide range of peer reviewed journals.

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Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

Van Bergen, N. J., Gunanayagam, K., Bournazos, A. M., Walvekar, A. S., Warmoes, M. O., Semcesen, L. N., Lunke, S., Bommireddipalli, S., Sikora, T., Patraskaki, M., Jones, D. L., Garza, D., Sebire, D., Gooley, S., McLean, C. A., Naidoo, P., Rajasekaran, M., Stroud, D. A., Linster, C. L., Wallis, M., … Christodoulou, J

(2023), International journal of molecular sciences, 24(4), 3582

DOI: 10.3390/ijms24043582

Creutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2022

Stehmann, C., Senesi, M., Sarros, S., McGlade, A., Lewis, V., Ellett, L., Barber, D., Simpson, M., Klug, G., McLean, C. A., Masters, C. L., & Collins, S. J

(2023), Communicable diseases intelligence, 47

DOI: 10.33321/cdi.2023.47.37

The anatomical distribution of lentiginous melanoma (lentigo maligna and lentigo maligna melanoma): Differences according to sex

Punchihewa, N., Wee, E., Kelly, J. W., Mclean, C., Mar, V. J., & Pan, Y

(2023), Australasian journal of dermatology, 64(3), e277-e280

DOI: 10.1111/ajd.14058

Evaluation of dynamic dermoscopic features of melanoma and benign naevi by sequential digital dermoscopic imaging and total body photography in a high-risk Australian cohort

Nguyen J, Doolan BJ, Pan Y, Vestergaard T, Paul E, McLean C, Haskett M, Kelly J, Mar V, Chamberlain A

(2023), Australasian journal of dermatology, 64(1), 67-79

DOI: 10.1111/ajd.13975

Quantitative proteomics of tau and Aβ in detergent fractions from Alzheimer's disease brains

Mukherjee, S., Dubois, C., Perez, K., Varghese, S., Birchall, I. E., Leckey, M., Davydova, N., McLean, C., Nisbet, R. M., Roberts, B. R., Li, Q. X., Masters, C. L., & Streltsov, V. A.

(2023), Journal of neurochemistry, 164(4), 529-552

DOI: 10.1111/jnc.15713

A peptide-centric quantitative proteomics dataset for the phenotypic assessment of Alzheimer's disease

Merrihew, G. E., Park, J., Plubell, D., Searle, B. C., Keene, C. D., Larson, E. B., Bateman, R., Perrin, R. J., Chhatwal, J. P., Farlow, M. R., McLean, C. A., Ghetti, B., Newell, K. L., Frosch, M. P., Montine, T. J., & MacCoss, M. J

(2023), Scientific data, 10(1), 206

DOI: 10.1038/s41597-023-02057-7

Acute leg pain and weakness in pregnancy: A new diagnosis of myotonic dystrophy

Heron, V. C., Thomas, A., Liu, B., Crosthwaite, A. A., Skrzypek, H., McLean, C. A., & Paizis, K

(2023), Obstetric medicine, 16(4), 253-5

DOI: 10.1177/1753495X221109738

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Le Voyer, T., Parent, A. V., Liu, X., Cederholm, A., Gervais, A., Rosain, J., Nguyen, T., Perez Lorenzo, M., Rackaityte, E., Rinchai, D., Zhang, P., Bizien, L., Hancioglu, G., Ghillani-Dalbin, P., Charuel, J. L., Philippot, Q., Gueye, M. S., Maglorius Renkilaraj, M. R. L., Ogishi, M., Soudée, C., … Puel, A

(2023), Nature, 623(7988), 803-813

DOI: 10.1038/s41586-023-06717-x

Mitochondria- and NOX4-dependent antioxidant defense mitigates progression to nonalcoholic steatohepatitis in obesity

Greatorex, S., Kaur, S., Xirouchaki, C. E., Goh, P. K., Wiede, F., Genders, A. J., Tran, M., Jia, Y., Raajendiran, A., Brown, W. A., McLean, C. A., Sadoshima, J., Watt, M. J., & Tiganis, T

(2023), Journal of clinical investigation, 134(3), e162533

DOI: 10.1172/JCI162533

Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report

Folland, C., Ganesh, V., Weisburd, B., McLean, C., Kornberg, A. J., O'Donnell-Luria, A., Rehm, H. L., Stevanovski, I., Chintalaphani, S. R., Kennedy, P., Deveson, I. W., & Ravenscroft, G

(2023), NEUROLOGY-GENETICS, 9(2), e200064

DOI: 10.1212/NXG.0000000000200064

Trabid patient mutations impede the axonal trafficking of adenomatous polyposis coli to disrupt neurite growth

Frank, D., Bergamasco, M., Mlodzianoski, M. J., Kueh, A., Tsui, E., Hall, C., Kastrappis, G., Voss, A. K., McLean, C., Faux, M., Rogers, K. L., Tran, B., Vincan, E., Komander, D., Dewson, G., & Tran, H

(2023), eLife, 12, RP90796

DOI: 10.7554/eLife.90796

Improving skin cancer management with ARTificial intelligence: A pre-post intervention trial of an artificial intelligence system used as a diagnostic aid for skin cancer management in a real-world specialist dermatology setting

Felmingham C, Pan Y, Kok Y, Kelly J, Gin D, Nguyen J, Goh M, Chamberlain A, Oakley A, Tucker S, Berry W, Darling M, Jobson D, Robinson A, de Menezes S, Wang C, Willems A, McLean C, Cranwell W, Adler N, Wada M, Foley P, Brack J, Cumming S, Byars G, Bowling A, Ge Z, Haskett M, Wolfe R, Mar V; SMARTI Study Group

(2023), JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 88(5), 1138-42

DOI: 10.1016/j.jaad.2022.10.038

Nicotinamide for Skin-Cancer Chemoprevention in Transplant Recipients

Allen, N. C., Martin, A. J., Snaidr, V. A., Eggins, R., Chong, A. H., Fernandéz-Peñas, P., Gin, D., Sidhu, S., Paddon, V. L., Banney, L. A., Lim, A., Upjohn, E., Schaider, H., Ganhewa, A. D., Nguyen, J., McKenzie, C. A., Prakash, S., McLean, C., Lochhead, A., Ibbetson, J., … Damian, D. L

(2023), New England journal of medicine, 388(9), 804-812

DOI: 10.1056/NEJMoa2203086

Isolated IgG4-associated autoimmune hepatitis or the first manifestation of IgG4-related disease?

Cosentino, Carmela B.; Clayton-Chubb, Daniel Ian; McLean, Catriona; Roberts, Stuart; Kemp, William Wilson

(2023), HEPATOBILIARY & PANCREATIC DISEASES INTERNATIONAL, 22(4), 415-417

DOI: 10.1016/j.hbpd.2022.10.001

Glioneuronal brainstem tumor - It's all in the eyes

Foster E, McLean C, White O

(2019), J Clin Neurosci, 60, 151-3

DOI: 10.1016/j.jocn.2018.10.084

Interferon-beta in multiple sclerosis causing thrombotic microangiopathy

Yam C, Fok A, Mclean C, Butler E, Kempster P

(2019), Intern Med J, 49(2), 274-6

DOI: 10.1111/imj.14204

Potential Diagnostic Imaging of Alzheimer's Disease with Copper-64 Complexes That Bind to Amyloid-β Plaques

McInnes LE, Noor A, Kysenius K, Cullinane C, Roselt P, McLean CA, Chiu FCK, Powell AK, Crouch PJ, White JM, Donnelly PS.

(2019), Inorg Chem, 58(5), 3382-95

DOI: 10.1021/acs.inorgchem.8b03466

Genome-wide association study of germline variants and breast cancer-specific mortality

Escala-Garcia M, Guo Q, Dörk T, Canisius S, Keeman R, Dennis J, Beesley J, Lecarpentier J, Bolla MK, Wang Q, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Boeckx B, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brentnall A, Brinton L, Broberg P, Brock IW, Brucker SY, Burwinkel B, Caldas C, Caldés T, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Cheng TD, Chin SF, Clarke CL; NBCS Collaborators, Cordina-Duverger E, Couch FJ, Cox DG, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dunn JA, Dunning AM, Durcan L, Dwek M, Earl HM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, Gago-Dominguez M, Galle E, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Georgoulias V, Giles GG, Glendon G, Goldgar DE, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hankinson S, Harkness EF, Harrington PA, Hart SN, Hartikainen JM, Hein A, Hillemanns P, Hiller L, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Janni W, John EM, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kabisch M, Kaczmarek K, Kerin MJ, Khan S, Khusnutdinova E, Kiiski JI, Kitahara CM, Knight JA, Ko YD, Koppert LB, Kosma VM, Kraft P, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Li L, Lindblom A, Lindström S, Linet M, Lissowska J, Lo WY, Loibl S, Lubiński J, Lux MP, MacInnis RJ, Maierthaler M, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Mavroudis D, McLean C, Meindl A, Middha P, Miller N, Milne RL, Moreno F, Mulligan AM, Mulot C, Nassir R, Neuhausen SL, Newman WT, Nielsen SF, Nordestgaard BG, Norman A, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Petridis C, Pinchev M, Prajzendanc K, Prentice R, Presneau N, Prokofieva D, Pylkäs K, Rack B, Radice P, Ramachandran D, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Saloustros E, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schwentner L, Scott RJ, Scott C, Seynaeve C, Shah M, Simard J, Smeets A, Sohn C, Southey MC, Swerdlow AJ, Talhouk A, Tamimi RM, Tapper WJ, Teixeira MR, Tengström M, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Turman C, Turnbull C, Ulmer HU, Untch M, Vachon C, van Asperen CJ, van den Ouweland AMW, van Veen EM, Wendt C, Whittemore AS, Willett W, Winqvist R, Wolk A, Yang XR, Zhang Y, Easton DF, Fasching PA, Nevanlinna H, Eccles DM, Pharoah PDP, Schmidt MK

(2019), BRIT J CANCER, 120(6), 647-57

DOI: 10.1038/s41416-019-0393-x

Gastric adenocarcinoma causing biliary obstruction without ductal dilatation: a case report

Vaz K, Luber RP, McLean C, Gerstenmaier JF, Roberts SK

(2019), J Med Case Rep, 13(1), 72

DOI: 10.1186/s13256-019-1972-4

An Unusual Case of Synchronous Metastatic Melanomas With Differing Response to Pembrolizumab

Doolan BJ, McLean C, Mar V, Moore M

(2019), J Oncol Pract, 15(3), 159-60

DOI: 10.1200/JOP.18.00570

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