Research publications

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

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Prediction of breast cancer risk based on profiling with common genetic variants

Mavaddat N, Pharoah PD, Michailidou K, Tyrer J, Brook MN, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, Luben R, Brown J, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Czene K, Darabi H, Eriksson M, Peto J, Dos-Santos-Silva I, Dudbridge F, Johnson N, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Couch FJ, Olson JE, Vachon C, Pankratz VS, Lambrechts D, Wildiers H, Van Ongeval C, van Limbergen E, Kristensen V, Grenaker Alnæs G, Nord S, Borresen-Dale AL, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Trentham-Dietz A, Newcomb P, Titus L, Egan KM, Hunter DJ, Lindstrom S, Tamimi RM, Kraft P, Rahman N, Turnbull C, Renwick A, Seal S, Li J, Liu J, Humphreys K, Benitez J, Pilar Zamora M, Arias Perez JI, Menéndez P, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Bogdanova NV, Antonenkova NN, DÖrk T, Anton-Culver H, Neuhausen SL, Ziogas A, Bernstein L, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Cox A, Cross SS, Reed MW, Khusnutdinova E, Bermisheva M, Prokofyeva D, Takhirova Z, Meindl A, Schmutzler RK, Sutter C, Yang R, Schürmann P, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Guénel P, Truong T, Menegaux F, Sanchez M, Radice P, Peterlongo P, Manoukian S, Pensotti V, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Brauch H, Brüning T, Ko YD, Sigurdson AJ, Doody MM, Hamann U, Torres D, Ulmer HU, FÖrsti A, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Andrulis IL, Knight JA, Glendon G, Marie Mulligan A, Chenevix-Trench G, Balleine R, Giles GG, Milne RL, McLean C, Lindblom A, Margolin S, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Eilber U, Wang-Gohrke S, Hooning MJ, Hollestelle A, van den Ouweland AM, Koppert LB, Carpenter J, Clarke C, Scott R, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Brenner H, Arndt V, Stegmaier C, Karina Dieffenbach A, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Offit K, Vijai J, Robson M, Rau-Murthy R, Dwek M, Swann R, Annie Perkins K, Goldberg MS, Labrèche F, Dumont M, Eccles DM, Tapper WJ, Rafiq S, John EM, Whittemore AS, Slager S, Yannoukakos D, Toland AE, Yao S, Zheng W, Halverson SL, González-Neira A, Pita G, Rosario Alonso M, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, Simard J, Hall P, Easton DF, Garcia-Closas M

(2015), J Natl Cancer Inst, 107(5), pii: djv036

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Orr N, Dudbridge F, Dryden N, Maguire S, Novo D, Perrakis E, Johnson N, Ghoussaini M, Hopper JL, Southey MC, Apicella C, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Hogervorst FB, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Gibson L, Aitken Z, Warren H, Sawyer E, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guénel P, Truong T, Cordina-Duverger E, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Hamann U, Brauch H, Justenhoven C, Brüning T, Ko YD, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Bogdanova N, DÖrk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Beesley J, Lambrechts D, Moisse M, Floris G, Beuselinck B, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Peissel B, Pensotti V, Couch FJ, Olson JE, Slettedahl S, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Kristensen V, Alnæs GG, Nord S, Borresen-Dale AL, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve CM, Van Asperen CJ, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Klevebring D, Hooning MJ, Hollestelle A, van Deurzen CH, Kriege M, Hall P, Li J, Liu J, Humphreys K, Cox A, Cross SS, Reed MW, Pharoah PD, Dunning AM, Shah M, Perkins BJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Ashworth A, Swerdlow A, Jones M, Schoemaker MJ, Meindl A, Schmutzler RK, Olswold C, Slager S, Toland AE, Yannoukakos D, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Matsuo K, Ito H, Iwata H, Ishiguro J, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Teo SH, Yip CH, Kang P, Ikram MK, Shu XO, Lu W, Gao YT, Cai H, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Miao H, Lim WY, Lee SC, Sangrajrang S, Gaborieau V, Brennan P, Mckay J, Wu PE, Hou MF, Yu JC, Shen CY, Blot W, Cai Q, Signorello LB, Luccarini C, Bayes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Hunter DJ, Lindstrom S, Dennis J, Michailidou K, Bolla MK, Easton DF, dos Santos Silva I, Fletcher O, Peto J; GENICA Network; kConFab Investigators; Australian Ovarian Cancer Study Group

(2015), Hum Mol Genet, 24(10), 2966-84

Parkinson's disease iron deposition caused by nitric oxide-induced loss of β-amyloid precursor protein

Ayton S, Lei P, Hare DJ, Duce JA, George JL, Adlard PA, McLean C, Rogers JT, Cherny RA, Finkelstein DI, Bush AI

(2015), J Neurosci, 35(8), 3591-7

Identification of novel genetic markers of breast cancer survival

Guo Q, Schmidt MK, Kraft P, Canisius S, Chen C, Khan S, Tyrer J, Bolla MK, Wang Q, Dennis J, Michailidou K, Lush M, Kar S, Beesley J, Dunning AM, Shah M, Czene K, Darabi H, Eriksson M, Lambrechts D, Weltens C, Leunen K, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Blomqvist C, Aittomäki K, Fagerholm R, Muranen TA, Couch FJ, Olson JE, Vachon C, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Broeks A, Hogervorst FB, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Cox A, Cross SS, Reed MW, Giles GG, Milne RL, McLean C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Hooning MJ, Hollestelle A, Martens JW, van den Ouweland AM, Marme F, Schneeweiss A, Yang R, Burwinkel B, Figueroa J, Chanock SJ, Lissowska J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Brenner H, Dieffenbach AK, Arndt V, Holleczek B, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Li J, Brand JS, Humphreys K, Devilee P, Tollenaar RA, Seynaeve C, Radice P, Peterlongo P, Bonanni B, Mariani P, Fasching PA, Beckmann MW, Hein A, Ekici AB, Chenevix-Trench G, Balleine R; kConFab Investigators, Phillips KA, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Hamann U, Kabisch M, Ulmer HU, Rüdiger T, Margolin S, Kristensen V, Nord S, Evans DG, Abraham JE, Earl HM, Hiller L, Dunn JA, Bowden S, Berg C, Campa D, Diver WR, Gapstur SM, Gaudet MM, Hankinson SE, Hoover RN, Hüsing A, Kaaks R, Machiela MJ, Willett W, Barrdahl M, Canzian F, Chin SF, Caldas C, Hunter DJ, Lindstrom S, García-Closas M, Hall P, Easton DF, Eccles DM, Rahman N, Nevanlinna H, Pharoah PD

(2015), J Natl Cancer Inst, 107(5), pii: djv081

Prognosis associated with cutaneous melanoma metastases

Pan Y, Haydon AM, McLean CA, McDonald PB, Kelly JW

(2015), Australas J Dermatol, 56(1), 25-8

X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the FHL1 gene

D'Arcy C, Kanellakis V, Forbes R, Wilding B, McGrath M, Howell K, Ryan M, McLean C

(2015), J Child Neurol, 30(9), 1211-7

Identification of a novel proto-oncogenic network in head and neck squamous cell carcinoma

Georgy SR, Cangkrama M, Srivastava S, Partridge D, Auden A, Dworkin S, McLean CA, Jane SM, Darido C

(2015), J Natl Cancer Inst, 107(9), pii: djv152

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

Guo X, Long J, Zeng C, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Milne RL, Shu XO, Cai Q, Beesley J, Kar SP, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel A, Benitez J, Blot W, Bogdanova N, Bojesen SE, Brauch H, Brenner H, Brinton L, Broeks A, Brüning T, Burwinkel B, Cai H, Canisius S, Chang-Claude J, Choi JY, Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Droit A, DÖrk T, Fasching PA, Fletcher O, Flyger H, Fostira F, Gaborieau V, García-Closas M, Giles GG, Grip M, Guénel P, Haiman CA, Hamann U, Hartman M, Hollestelle A, Hopper JL, Hsiung CN, Ito H, Jakubowska A, Johnson N, Kabisch M, Kang D, Khan S, Knight JA, Kosma VM, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McLean CA, Meindl A, Muir K, Neuhausen SL, Nevanlinna H, Nord S, Olson JE, Orr N, Peterlongo P, Putti TC, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Shen CY, Shi J, Shrubsole MJ, Southey MC, Swerdlow A, Teo SH, Thienpont B, Toland AE, Tollenaar RA, Tomlinson IP, Truong T, Tseng CC, van den Ouweland A, Wen W, Winqvist R, Wu A, Yip CH, Zamora MP, Zheng Y, Hall P, Pharoah PD, Simard J, Chenevix-Trench G; kConFab Investigators, Dunning AM, Easton DF, Zheng W

(2015), Cancer Epidemiol Biomarkers Prev, 24(11), 1680-91

SNP-SNP interaction analysis of NF-ΚB signaling pathway on breast cancer survival

Jamshidi M, Fagerholm R, Khan S, Aittomäki K, Czene K, Darabi H, Li J, Andrulis IL, Chang-Claude J, Devilee P, Fasching PA, Michailidou K, Bolla MK, Dennis J, Wang Q, Guo Q, Rhenius V, Cornelissen S, Rudolph A, Knight JA, Loehberg CR, Burwinkel B, Marme F, Hopper JL, Southey MC, Bojesen SE, Flyger H, Brenner H, Holleczek B, Margolin S, Mannermaa A, Kosma VM; kConFab Investigators, Van Dyck L, Nevelsteen I, Couch FJ, Olson JE, Giles GG, McLean C, Haiman CA, Henderson BE, Winqvist R, Pylkäs K, Tollenaar RA, García-Closas M, Figueroa J, Hooning MJ, Martens JW, Cox A, Cross SS, Simard J, Dunning AM, Easton DF, Pharoah PD, Hall P, Blomqvist C, Schmidt MK, Nevanlinna H

(2015), Oncotarget, 6(35), 37979-94

Letter to the editor

Lin MJ, Mar V, McLean C, Wolfe R, Kelly JW

(2015), Australas J Dermatol, 56(1), 66

Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression

Darabi H, McCue K, Beesley J, Michailidou K, Nord S, Kar S, Humphreys K, Thompson D, Ghoussaini M, Bolla MK, Dennis J, Wang Q, Canisius S, Scott CG, Apicella C, Hopper JL, Southey MC, Stone J, Broeks A, Schmidt MK, Scott RJ, Lophatananon A, Muir K, Beckmann MW, Ekici AB, Fasching PA, Heusinger K, Dos-Santos-Silva I, Peto J, Tomlinson I, Sawyer EJ, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, Benitez J, González-Neira A, Anton-Culver H, Neuhausen SL, Arndt V, Brenner H, Engel C, Meindl A, Schmutzler RK; German Consortium of Hereditary Breast and Ovarian Cancer, Arnold N, Brauch H, Hamann U, Chang-Claude J, Khan S, Nevanlinna H, Ito H, Matsuo K, Bogdanova NV, DÖrk T, Lindblom A, Margolin S; kConFab/AOCS Investigators, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Floris G, Lambrechts D, Rudolph A, Peterlongo P, Radice P, Couch FJ, Vachon C, Giles GG, McLean C, Milne RL, Dugué PA, Haiman CA, Maskarinec G, Woolcott C, Henderson BE, Goldberg MS, Simard J, Teo SH, Mariapun S, Helland Å, Haakensen V, Zheng W, Beeghly-Fadiel A, Tamimi R, Jukkola-Vuorinen A, Winqvist R, Andrulis IL, Knight JA, Devilee P, Tollenaar RA, Figueroa J, García-Closas M, Czene K, Hooning MJ, Tilanus-Linthorst M, Li J, Gao YT, Shu XO, Cox A, Cross SS, Luben R, Khaw KT, Choi JY, Kang D, Hartman M, Lim WY, Kabisch M, Torres D, Jakubowska A, Lubinski J, McKay J, Sangrajrang S, Toland AE, Yannoukakos D, Shen CY, Yu JC, Ziogas A, Schoemaker MJ, Swerdlow A, Borresen-Dale AL, Kristensen V, French JD, Edwards SL, Dunning AM, Easton DF, Hall P, Chenevix-Trench G

(2015), Am J Hum Genet, 97(1), 22-34

Serotonergic markers in Parkinson's disease and levodopa-induced dyskinesias

Cheshire P, Ayton S, Bertram KL, Ling H, Li A, McLean C, Halliday GM, O'Sullivan SS, Revesz T, Finkelstein DI, Storey E, Williams DR

(2015), Mov Disord, 30(6), 796-804

Primary apocrine adenocarcinoma of scrotum suspected as urothelial carcinoma metastasis: a clinical and pathological dilemma

Huang S, Frydenberg M, Pham A, Grummet JP

(2015), Urol Ann, 7(1), 97-9

PAX5-expressing ALK-negative anaplastic large cell lymphoma with extensive extranodal and nodal involvemen

Ong DM, Cummins KD, Pham A, Grigoriadis G

(2015), BMJ Case Rep, 2015, bcr2015211159

Parathyroid lipoadenoma

Johnson N, Serpell JW, Johnson WR, Thomson K

(2015), ANZ J Surg, 85(6), 489-90

Anti-thyroid antibodies as a predictor of thyroid cancer

Wong SL, Grodski S, Yeung MJ, Serpell JW

(2015), ANZ J Surg, 85(11), 849-53

Adenomas of cervical maldescended parathyroid glands: pearls and pitfalls

Lee JC, Mazeh H, Serpell J, Delbridge LW, Chen H, Sidhu S

(2015), ANZ J Surg, 85(12), 957-61

Restoration of vision in blind individuals using bionic devices: a review with a focus on cortical visual prostheses

Lewis PM, Ackland HM, Lowery AJ, Rosenfeld JV

(2015), Brain Res, 1595, 51-73

Environmental emergencies in theatre and critical care areas: power failure, fire, and explosion

Miles LF, Scheinkestel CD, Downey GO

(2015), Contin Educ Anaesth Crit Care Pain, 15(2), 78-83

Comparison of ultrasound-guided and fluoroscopy-assisted antegrade common femoral artery puncture techniques

Slattery MM, Goh GS, Power S, Given MF, McGrath FP, Lee MJ

(2015), Cardiovasc Intervent Radiol, 38(3), 579-82