We accept all test referrals. Find a Collection Centre

Home Research Our Research

Research Publications

42 results

July 2022

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Hum Mutat. 2022 Jul 29. Q1 Genetics (SJR).

Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B.

July 2022

Landscape of Mutations in Early Stage Primary Cutaneous Melanoma – An InterMEL Study.

Pigment Cell Melanoma Res. 2022 Jul 25. Q1 Biochemistry, Genetics and Molecular Biology (SJR).

Luo L, Shen R, Arora A, Orlow I, Busam KJ, Lezcano C, Lee TK, Hernando E, Gorlov I, Amos C, Ernstoff MS, Seshan V, Cust AE, Wilmott J, Scolyer RA, Mann G, Nagore E, Funchain P, Ko J, Ngo P, Edmiston SN, Conway K, Googe PB, Ollila D, Lee JE, Fang S, Rees JR, Thompson CL, Gerstenblith M, Bosenberg M, Gould Rothberg B, Osman I, Saenger Y, Reynolds AZ, Schwartz M, Boyce T, Holmen S, Brunsgaard E, Bogner P, Kuan PF, Wiggins C, Thomas NE, Begg CB, Berwick M; For InterMEL.

July 2022

Clinical Outcomes and Risk Stratification of Early-Stage Melanoma Micrometastases From an International Multicenter Study: Implications for the Management of American Joint Committee on Cancer IIIA Disease.

J Clin Oncol. 2022 Jul 18: JCO2102488. Q1 Cancer Research (SJR).

Moncrieff MD, Lo SN, Scolyer RA, Heaton MJ, Nobes JP, Snelling AP, Carr MJ, Nessim C, Wade R, Peach AH, Kisyova R, Mason J, Wilson ED, Nolan G, Pritchard Jones R, Johansson I, Olofsson Bagge R, Wright LJ, Patel NG, Sondak VK, Thompson JF, Zager JS.

July 2022

Key predictors and burden of meticillin-resistant Staphylococcus aureus in comparison with meticillin-susceptible S. aureus infections in an Australian hospital setting.

J Hosp Infect. 2022 Jul 12: S0195-6701(22)00220-1. Q1 Infectious Diseases (SJR).

Miyakis S, Brentnall S, Masso M, Reynolds G, Byrne MK, Newton P, Crawford S, Fish J, Nicholas B, Hill T, van Oijen AM; Wollongong Antimicrobial Resistance Research Alliance (WARRA); One Health Understanding Through Bacterial Resistance to Antibiotics Knowledge (OUTBREAK) Consortium.

June 2022

Is the future of peer review automated?

BMC Res Notes. 2022 Jun 11;15(1):203. Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Schulz R, Barnett A, Bernard R, Brown NJL, Byrne JA, Eckmann P, Gazda MA, Kilicoglu H, Prager EM, Salholz-Hillel M, Ter Riet G, Vines T, Vorland CJ, Zhuang H, Bandrowski A, Weissgerber TL.

June 2022

Phage Therapy of Mycobacterium Infections: Compassionate-use of Phages in Twenty Patients with Drug-Resistant Mycobacterial Disease.

Clin Infect Dis. 2022 Jun 9: ciac453. Q1 Infectious Diseases (SJR).

Dedrick RM, Smith BE, Cristinziano M, Freeman KG, Jacobs-Sera D, Belessis Y, Whitney Brown A, Cohen KA, Davidson RM, van Duin D, Gainey A, Garcia CB, Robert George CR, Haidar G, Ip W, Iredell J, Khatami A, Little JS, Malmivaara K, McMullan BJ, Michalik DE, Moscatelli A, Nick JA, Tupayachi Ortiz MG, Polenakovik HM, Robinson PD, Skurnik M, Solomon DA, Soothill J, Spencer H, Wark P, Worth A, Schooley RT, Benson CA, Hatfull GF.

June 2022

Personalized response-directed surgery and adjuvant therapy after neoadjuvant ipilimumab and nivolumab in high-risk stage III melanoma: the PRADO trial.

Nat Med. 2022 Jun;28(6):1178-1188. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Reijers ILM, Menzies AM, van Akkooi ACJ, Versluis JM, van den Heuvel NMJ, Saw RPM, Pennington TE, Kapiteijn E, van der Veldt AAM, Suijkerbuijk KPM, Hospers GAP, Rozeman EA, Klop WMC, van Houdt WJ, Sikorska K, van der Hage JA, Grünhagen DJ, Wouters MW, Witkamp AJ, Zuur CL, Lijnsvelt JM, Torres Acosta A, Grijpink-Ongering LG, Gonzalez M, Jóźwiak K, Bierman C, Shannon KF, Ch'ng S, Colebatch AJ, Spillane AJ, Haanen JBAG, Rawson RV, van de Wiel BA, van de Poll-Franse LV, Scolyer RA, Boekhout AH, Long GV, Blank CU.

June 2022

Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma.

J Invest Dermatol. 2022 Jun;142(6):1607-1616. Q1 Biochemistry (SJR).

Liyanage UE, MacGregor S, Bishop DT, Shi J, An J, Ong JS, Han X, Scolyer RA, Martin NG, Medland SE, Byrne EM, Green AC, Saw RPM, Thompson JF, Stretch J, Spillane A, Jiang Y, Tian C; 23andMe Research Team, Gordon SG, Duffy DL, Olsen CM, Whiteman DC, Long GV, Iles MM, Landi MT, Law MH.

May 2022

Off-season RSV epidemics in Australia after easing of COVID-19 restrictions.

Australian RSV study group Nat Commun. 2022 May 24;13(1):2884. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Eden JS, Sikazwe C, Xie R, Deng YM, Sullivan SG, Michie A, Levy A, Cutmore E, Blyth CC, Britton PN, Crawford N, Dong X, Dwyer DE, Edwards KM, Horsburgh BA, Foley D, Kennedy K, Minney-Smith C, Speers D, Tulloch RL, Holmes EC, Dhanasekaran V, Smith DW, Kok J, Barr IG

May 2022

ALTEN: A High-Fidelity Primary Tissue-Engineering Platform to Assess Cellular Responses Ex Vivo.

D. Adv Sci (Weinh). 2022 May 25: e2103332. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Law AMK, Chen J, Colino-Sanguino Y, Fuente LR, Fang G, Grimes SM, Lu H, Huang RJ, Boyle ST, Venhuizen J, Castillo L, Tavakoli J, Skhinas JN, Millar EKA, Beretov J, Rossello FJ, Tipper JL, Ormandy CJ, Samuel MS, Cox TR, Martelotto L, Jin D, Valdes-Mora F, Ji HP, Gallego-Ortega

June 2022

Platform for isolation and characterization of SARS-CoV‑2 variants enables rapid characterization of Omicron in Australia.

Nat Microbiol. 2022 Jun;7(6):896-908. Q1 Applied Microbiology and Biotechnology (SJR).

Aggarwal A, Stella AO, Walker G, Akerman A, Esneau C, Milogiannakis V, Burnett DL, McAllery S, Silva MR, Lu Y, Foster CSP, Brilot F, Pillay A, Van Hal S, Mathivanan V, Fichter C, Kindinger A, Hoppe AC, Munier ML, Amatayakul-Chantler S, Roth N, Coppola G, Symonds GP, Schofield P, Jackson J, Lenthall H, Henry JY, Mazigi O, Jäck HM, Davenport MP, Darley DR, Matthews GV, Khoury DS, Cromer D, Goodnow CC, Christ D, Robosa R, Starck DJ, Bartlett NW, Rawlinson WD, Kelleher A D, Turville SG

November 2022

Achieving safe surgery after COVID-19 vaccination.

ANZ J Surg. 2022 May;92(5):946-949. Q2 Surgery (SJR).

Kovoor JG, Jacobsen JHW, Duncan J, Addo AA, Tivey DR, Babidge WJ, Penn D, Churchill J, Collinson TG, Kok J, Kelly S, Lu VH, Beavis VS, MacCormick AD, Kearney BJ, Gowans EJ, Hewett PJ, Hugh TJ, Woo HH, Padbury RT, Scott DA, Frydenberg M, Maddern GJ.

May 2022

Co-infection with SARS-CoV‑2 Omicron and Delta variants revealed by genomic surveillance.

Nat Commun. 2022 May 18;13(1):2745. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Rockett RJ, Draper J, Gall M, Sim EM, Arnott A, Agius JE, Johnson-Mackinnon J, Fong W, Martinez E, Drew AP, Lee C, Ngo C, Ramsperger M, Ginn AN, Wang Q, Fennell M, Ko D, Hueston L, Kairaitis L, Holmes EC, O'Sullivan MN, Chen SC, Kok J, Dwyer DE, Sintchenko V.

May 2022

Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.

Hered Cancer Clin Pract. 2022 May 4;20(1):18. Q3 Genetics (clinical (SJR)).

Steinberg J, Chan P, Hogden E, Tiernan G, Morrow A, Kang YJ, He E, Venchiarutti R, Titterton L, Sankey L, Pearn A, Nichols C, McKay S, Hayward A, Egoroff N, Engel A, Gibbs P, Goodwin A, Harris M, Kench JG, Pachter N, Parkinson B, Pockney P, Ragunathan A, Smyth C, Solomon M, Steffens D, Toh JWT, Wallace M, Canfell K, Gill A, Macrae F, Tucker K, Taylor N.

May 2022

Priorities in Biobanking Research: A Report on the 2021 ISBER Round Table.

Biopreserv Biobank. 2022 May 4. Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Byrne JA, Banaszak AT, Carpenter JE, Carroll SL, Castelhano MG, Espinal PS, Henderson MK, Hettiaratchi A, Maseme M, Ng W, Patel K, Popescu I, Prada SI, Schleif WS, Smith M, Wee, S, Weil CJ, Woods K.

May 2022

Author Correction: Tumour gene expression signature in primary melanoma predicts long-term outcomes.

Nat Commun. 2022 May 17;13(1):2841. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Garg M, Couturier DL, Nsengimana J, Fonseca NA, Wongchenko M, Yan Y, Lauss M, Jönsson GB, Newton-Bishop J, Parkinson C, Middleton MR, Bishop DT, McDonald S, Stefanos N, Tadross J, Vergara IA, Lo S, Newell F, Wilmott JS, Thompson JF, Long GV, Scolyer RA, Corrie P, Adams DJ, Brazma A, Rabbie R.

April 2022

Development of melanoma clinical quality indicators for the Australian melanoma clinical outcomes registry (MelCOR): A modified Delphi study.

Dermatol. 2022 Apr 29. Q2 Dermatology (SJR).

Jobson D, Roffey B, Arnold C, Azzi A, Button-Sloan A, Dawson T, Fernandez-Penas P, Fishburn P, Gyorki DE, Hiscutt EL, Jakrot V, Lilleyman A, Lochhead A, Long GV, Mailer S, Mann G, McCormack CJ, Muir J, Pratt GF, Scolyer RA, Shackelton M, Shumack S, Soyer HP, Tan CG, Webb A, Zalcberg J, Morton R, Mar V. Australas

April 2022

The Australian dingo is an early offshoot of modern breed dogs.

Sci Adv. 2022 Apr 22;8(16): eabm5944.

Field MA, Yadav S, Dudchenko O, Esvaran M, Rosen BD, Skvortsova K, Edwards RJ, Keilwagen J, Cochran BJ, Manandhar B, Bustamante S, Rasmussen JA, Melvin RG, Chernoff B, Omer A, Colaric Z, Chan EKF, Minoche AE, Smith TPL, Gilbert MTP, Bogdanovic O, Zammit RA, Thomas T, Aiden EL, Ballard JWO.

March 2022

Anatomic position determines oncogenic specificity in melanoma.

Nature Mar 30. Q1 Multidisciplinary (SJR).

Weiss JM, Hunter MV, Cruz NM, Baggiolini A, Tagore M, Ma Y, Misale S, Marasco M, Simon-Vermot T, Campbell NR, Newell F, Wilmott JS, Johansson PA, Thompson JF, Long GV, Pearson JV, Mann GJ, Scolyer RA, Waddell N, Montal ED, Huang TH, Jonsson P, Donoghue MTA, Harris CC, Taylor BS, Xu T, Chaligné R, Shliaha PV, Hendrickson R, Jungbluth AA, Lezcano C, Koche R, Studer L, Ariyan CE, Solit DB, Wolchok JD, Merghoub T, Rosen N, Hayward NK, White RM

March 2022

Resistance Mutations in SARS-CoV‑2 Delta Variant after Sotrovimab Use.

N Engl J Med Mar 9:NEJMc2120219. Q1 Medicine (miscellaneous (SJR)).

Rockett R, Basile K, Maddocks S, Fong W, Agius JE, Johnson-Mackinnon J, Arnott A, Chandra S, Gall M, Draper J, Martinez E, Sim EM, Lee C, Ngo C, Ramsperger M, Ginn AN, Wang Q, Fennell M, Ko D, Lim HL, Gilroy N, O'Sullivan MVN, Chen SC, Kok J, Dwyer DE, Sintchenko V

February 2022

Correspondence on “Screening for autosomal recessive and X‑linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al.

Genet Med 2022 Feb 12: S1098-3600(22)00022-3 Q1 Genetics (clinical (SJR))

Righetti S, Dive L, Archibald AD, Freeman L, McClaren B, Kanga-Parabia A, Delatycki MB, Laing NG, Kirk EP, Newson AJ; counselling, psycho-social, and implementation science teams at Mackenzie’s Mission and the Gene Selection Committee

February 2022

Clinical Models to Define Response and Survival With Anti-PD‑1 Antibodies Alone or Combined With Ipilimumab in Metastatic Melanoma.

J Clin Oncol 2022 Feb 10: JCO2101701 Q1 Cancer Research (SJR)

Pires da Silva I, Ahmed T, McQuade JL, Nebhan CA, Park JJ, Versluis JM, Serra-Bellver P, Khan Y, Slattery T, Oberoi HK, Ugurel S, Haydu LE, Herbst R, Utikal J, Pföhler C, Terheyden P, Weichenthal M, Gutzmer R, Mohr P, Rai R, Smith JL, Scolyer RA, Arance AM, Pickering L, Larkin J, Lorigan P, Blank CU, Schadendorf D, Davies MA, Carlino MS, Johnson DB, Long GV, Lo SN, Menzies AM

February 2022

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Hum Mol Genet 2022 Feb 11: ddac040 Q1 Genetics (SJR)

Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium, Boycott KM, Geraghty MT, Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A

February 2022

Consensus guidelines and recommendations for infection prevention in multiple myeloma: a report from the International Myeloma Working Group.

Lancet Haematol 2022 Feb;9(2): e143-e161 Q1 Hematology (SJR)

Raje NS, Anaissie E, Kumar SK, Lonial S, Martin T, Gertz MA, Krishnan A, Hari P, Ludwig H, O'Donnell E, Yee A, Kaufman JL, Cohen AD, Garderet L, Wechalekar AF, Terpos E, Khatry N, Niesvizky R, Yi Q, Joshua DE, Saikia T, Leung N, Engelhardt M, Mothy M, Branagan A, Chari A, Reiman AJ, Lipe B, Richter J, Rajkumar SV, Miguel JS, Anderson KC, Stadtmauer EA, Prabhala RH, McCarthy PL, Munshi NC

January 2022

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Genet Med. 2022 Jan;24(1):130-145. Q1 Genetics (clinical (SJR)).

Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts B, Cooper ST; Australasian Consortium for RNA Diagnostics

December 2021

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG Adv. 2021 Dec 3;3(1):100075.

Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B

January 2022

Women with type 1 diabetes exhibit a progressive increase in gut Saccharomyces cerevisiae in pregnancy associated with evidence of gut inflammation.

Diabetes Res Clin Pract Jan 17.109189. Q1 Endocrinology (SJR).

Bandala-Sanchez E, Roth-Schulze AJ, Oakey H, Penno MAS, Bediaga NG, Naselli G, Ngui KM, Smith AD, Huang D, Zozaya-Valdes E, Thomson RL, Brown JD, Vuillermin PJ, Barry SC, Craig ME, Rawlinson WD, Davis EA, Harris M, Soldatos G, Colman PG, Wentworth JM, Haynes A, Morahan G, Sinnott RO, Papenfuss AT, Couper JJ, Harrison LC; ENDIA Study Group

January 2022

Maintenance of broad neutralizing antibodies and memory B cells 1 year post-infection is predicted by SARS-CoV-2-specific CD4+ T cell responses.

Cell Rep Jan 19.110345. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Balachandran H, Phetsouphanh C, Agapiou D, Adhikari A, Rodrigo C, Hammoud M, Shrestha LB, Keoshkerian E, Gupta M, Turville S, Christ D, King C, Sasson SC, Bartlett A, Grubor-Bauk B, Rawlinson W, Aggarwal A, Stella AO, Klemm V, Mina MM, Post JJ, Hudson B, Gilroy N, Konecny P, Ahlenstiel G, Dwyer DE, Sorrell TC, Kelleher A, Tedla N, Lloyd AR, Martinello M, Bull RA; COSIN Study Group

December 2021

Primary hyperparathyroidism in adults-(Part II) surgical management and postoperative follow-up: Position statement of the Endocrine Society of Australia, The Australian & New Zealand Endocrine Surgeons, and The Australian & New Zealand Bone and Mineral Society.

Clin Endocrinol (Oxf) 2021 Dec 19

Miller JA, Gundara J, Harper S, Herath M, Ramchand SK, Farrell S, Serpell J, Taubman K, Christie J, Girgis CM, Schneider HG, Clifton-Bligh R, Gill AJ, De Sousa SMC, Carroll RW, Milat F, Grossmann M

December 2021

Association of hypertension with mortality in patients hospitalised with COVID-19.

Open Heart 2021 Dec;8(2): e001853

Bhatia KS, Sritharan HP, Ciofani J, Chia J, Allahwala UK, Chui K, Nour D, Vasanthakumar S, Khandadai D, Jayadeva P, Bhagwandeen R, Brieger D, Choong C, Delaney A, Dwivedi G, Harris B, Hillis G, Hudson B, Javorski G, Jepson N, Kanagaratnam L, Kotsiou G, Lee A, Lo ST, MacIsaac AI, McQuillan B, Ranasinghe I, Walton A, Weaver J, Wilson W, Yong ASC, Zhu J, Van Gaal W, Kritharides L, Chow CK, Bhindi R

December 2021

BRAF mutation testing for patients diagnosed with stage III or stage IV melanoma: practical guidance for the Australian setting.

Pathology 2021 Dec 19: S0031-3025(21)00533-X

Scolyer RA, Atkinson V, Gyorki DE, Lambie D, O'Toole S, Saw RPM, Amanuel B, Angel CM, Button-Sloan AE, Carlino MS, Ch'ng S, Colebatch AJ, Daneshvar D, Pires da Silva I, Dawson T, Ferguson PM, Foster-Smith E, Fox SB, Gill AJ, Gupta R, Henderson MA, Hong AM, Howle JR, Jackett LA, James C, Lee CS, Lochhead A, Loh D, McArthur GA, McLean CA, Menzies AM, Nieweg OE, O'Brien BH, Pennington TE, Potter AJ, Prakash S, Rawson RV, Read RL, Rtshiladze MA, Shannon KF, Smithers BM, Spillane AJ, Stretch JR, Thompson JF, Tucker P, Varey AHR, Vilain RE, Wood BA, Long GV

December 2021

Improve in-depth immunological risk assessment to optimize genetic-compatibility and clinical outcomes in child and adolescent recipients of parental donor kidney transplants: protocol for the INCEPTION study.

BMC Nephrol 2021 Dec 19;22(1):416

Lim WH, Adams B, Alexander S, Bouts AHM, Claas F, Collins M, Cornelissen E, Dunckley H, de Jong H, D'Orsogna L, Francis A, Heidt S, Herman J, Holdsworth R, Kausman J, Khalid R, Kim JJ, Kim S, Knops N, Kosmoliaptsis V, Kramer C, Kuypers D, Larkins N, Palmer SC, Prestidge C, Prytula A, Sharma A, Shingde M, Taverniti A, Teixeira-Pinto A, Trnka P, Willis F, Wong D, Wong G

December 2021

Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients.

Mod Pathol 2021 Dec 23

Fuchs TL, Maclean F, Turchini J, Vargas AC, Bhattarai S, Agaimy A, Hartmann A, Kao CS, Ellis C, Bonert M, Leroy X, Kunju LP, Schwartz L, Matsika A, Williamson SR, Rao P, Divatia M, Guarch R, Algaba F, Balancin ML, Zhou M, Samaratunga H, da Cunha IW, Brimo F, Ryan A, Clouston D, Aron M, O'Donnell M, Chan E, Hirsch MS, Moch H, Pang CY, Wah C, Yin W, Perry-Keene J, Yilmaz A, Chou A, Clarkson A, van der Westhuizen G, Morrison E, Zwi J, Hes O, Trpkov K, Gill AJ

December 2021

Multiomic profiling of checkpoint inhibitor-treated melanoma: Identifying predictors of response and resistance, and markers of biological discordance.

Cancer Cell 2021 Dec 21: S1535-6108(21)00612-7

Newell F, Pires da Silva I, Johansson PA, Menzies AM, Wilmott JS, Addala V, Carlino MS, Rizos H, Nones K, Edwards JJ, Lakis V, Kazakoff SH, Mukhopadhyay P, Ferguson PM, Leonard C, Koufariotis LT, Wood S, Blank CU, Thompson JF, Spillane AJ, Saw RPM, Shannon KF, Pearson JV, Mann GJ, Hayward NK, Scolyer RA, Waddell N, Long GV

December 2021

Immunizations with diverse sarbecovirus receptor-binding domains elicit SARS-CoV‑2 neutralizing antibodies against a conserved site of vulnerability.

Immunity 2021 Dec 14;54(12):2908-2921

Burnett DL, Jackson KJL, Langley DB, Aggrawal A, Stella AO, Johansen MD, Balachandran H, Lenthall H, Rouet R, Walker G, Saunders BM, Singh M, Li H, Henry JY, Jackson J, Stewart AG, Witthauer F, Spence MA, Hansbro NG, Jackson C, Schofield P, Milthorpe C, Martinello M, Schulz SR, Roth E, Kelleher A, Emery S, Britton WJ, Rawlinson WD, Karl R, Schäfer S, Winkler TH, Brink R, Bull RA, Hansbro PM, Jäck HM, Turville S, Christ D, Goodnow CC

November 2021

In Reply.

Arch Pathol Lab Med. 2021 Nov 1;145(11):1326-1327. Q1 Medical Laboratory Technology (SJR)

Cooper WA, Mahar A, Myers JL, Grainge C, Corte TJ, Williamson JP, Lau EMT, Raghu G, Troy LK

November 2021

he 2021 WHO Classification of Lung Tumors: Impact of advances since 2015.

J Thorac Oncol. 2021 Nov 19: S1556-0864(21)03316-5. Q1 Medicine (miscellaneous (SJR))

Nicholson AG, Tsao MS, Beasley MB, Borczuk AC, Brambilla E, Cooper WA, Dacic S, Jain D, Kerr KM, Lantuejoul S, Noguchi M, Papotti M, Rekhtman N, Scagliotti G, van Schil P, Sholl L, Yatabe Y, Yoshida A, Travis WD

November 2021

Multi-trait genetic analysis identifies auto-immune loci associated with cutaneous melanoma.

J Invest Dermatol. 2021 Nov 20: S0022-202X (21)02513-6. Q1 Biochemistry (SJR)

Liyanage U, MacGregor S, Bishop DT, Shi J, An J, Ong JS, Han X, Scolyer RA, Martin NG, Medland SE, Byrne EM, Green AC, Saw RPM, Thompson JF, Stretch J, Spillane A, Jiang Y, Tian C; 23andMe Research Team, Gordon SG, Duffy DL, Olsen CM, Whiteman DC, Long GV, Iles MM, Landi MT, Law MH

October 2021

Why Choose a Pathology Career?

Arch Pathol Lab Med 2021 Oct 12 Q1 Medical Laboratory Technology (SJR)

Fielder T, Watts F, Howden C, Gupta R, McKenzie C

October 2021

Overcoming enzalutamide resistance in metastatic prostate cancer by targeting sphingosine kinase.

EBioMedicine 2021 Oct;72: 103625 Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR))

Lin HM, Mak B, Yeung N, Huynh K, Meikle TG, Mellett NA, Kwan EM, Fettke H, Tran B, Davis ID, Mahon KL, Zhang A, Stockler MR, Briscoe K, Marx G, Crumbaker M, Stricker PD, Du P, Yu J, Jia S, Scheinberg T, Fitzpatrick M, Bonnitcha P, Sullivan DR, Joshua AM, Azad AA, Butler LM, Meikle PJ, Horvath LG

October 2021

Combined presentation and immunogenicity analysis reveals a recurrent RAS.Q61K neoantigen in melanoma.

J Clin Invest 2021 Oct 15;131(20): e129466 Q1 Medicine (miscellaneous (SJR))

Peri A, Greenstein E, Alon M, Pai JA, Dingjan T, Reich-Zeliger S, Barnea E, Barbolin C, Levy R, Arnedo-Pac C, Kalaora S, Dassa B, Feldmesser E, Shang P, Greenberg P, Levin Y, Benedek G, Levesque MP, Adams DJ, Lotem M, Wilmott JS, Scolyer RA, Jönsson GB, Admon A, Rosenberg SA, Cohen CJ, Niv MY, Lopez-Bigas N, Satpathy AT, Friedman N, Samuels Y

September 2021

Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.

2021 Sep 14 Q1 Pathology and Forensic Medicine (SJR)

Mihaela F, Zoran G, Kiril T, Jeffrey S, Ming Z, Reza A, Williamson SR, Cristina MG, Gill AJ, Maria T, Lopez JI, Delia PM, Maris S, Eva C, Fadi B, Asli Y, Farshid S, Ankur S, Yuan G, Nikola P, Levente K, Kristyna P, Joanna R, Abbas A, Arndt H, Cristoph F, Boris R, Pavel H, Dušan D, Michael B, Georgios G, Michal M, Milan H, Ondrej H

October 2021

Correction to: Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.

Mod Pathol 2021 Oct 5 Q1 Pathology and Forensic Medicine

Farcaş M, Gatalica Z, Trpkov K, Swensen J, Zhou M, Alaghehbandan R, Williamson SR, Magi-Galluzzi C, Gill AJ, Tretiakova M, Lopez JI, Montiel DP, Sperga M, Comperat E, Brimo F, Yilmaz A, Siadat F, Sangoi A, Gao Y, Ptákova N, Kuthi L, Pivovarcikova K, Rogala J, Agaimy A, Hartmann A, Fraune C, Rychly B, Hurnik P, Durcansky D, Bonnert M, Gakis G, Michal M, Hora M, Hes O

September 2021

A single-cell tumor immune atlas for precision oncology.

2021 Oct;31(10):1913-1926 Q1 Genetics (SJR)

Nieto P, Elosua-Bayes M, Trincado JL, Marchese D, Massoni-Badosa R, Salvany M, Henriques A, Nieto J, Aguilar-Fernández S, Mereu E, Moutinho C, Ruiz S, Lorden P, Chin VT, Kaczorowski D, Chan CL, Gallagher R, Chou A, Planas-Rigol E, Rubio-Perez C, Gut I, Piulats JM, Seoane J, Powell JE, Batlle E, Heyn H

September 2021

Counting mitoses: SI(ze) matters!

2021 Sep;34(9):1651-1657 Q1 Pathology and Forensic Medicine (SJR)

Cree IA, Tan PH, Travis WD, Wesseling P, Yagi Y, White VA, Lokuhetty D, Scolyer RA

September 2021

Tracking the international spread of SARS-CoV‑2 lineages B.1.1.7 and B.1.351/501Y-V2 with grinch.

2021 Sep 17; 6:121 Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR))

O'Toole Á, Hill V, Pybus OG, Watts A, Bogoch II, Khan K, Messina JP; COVID-19 Genomics UK (COG-UK) consortium; Network for Genomic Surveillance in South Africa (NGS-SA); Brazil-UK CADDE Genomic Network, Tegally H, Lessells RR, Giandhari J, Pillay S, Tumedi KA, Nyepetsi G, Kebabonye M, Matsheka M, Mine M, Tokajian S, Hassan H, Salloum T, Merhi G, Koweyes J, Geoghegan JL, de Ligt J, Ren X, Storey M, Freed NE, Pattabiraman C, Prasad P, Desai AS, Vasanthapuram R, Schulz TF, Steinbrück L, Stadler T; Swiss Viollier Sequencing Consortium, Parisi A, Bianco A, García de Viedma D, Buenestado-Serrano S, Borges V, Isidro J, Duarte S, Gomes JP, Zuckerman NS, Mandelboim M, Mor O, Seemann T, Arnott A, Draper J, Gall M, Rawlinson W, Deveson I, Schlebusch S, McMahon J, Leong L, Lim CK, Chironna M, Loconsole D, Bal A, Josset L, Holmes E, St George K, Lasek-Nesselquist E, Sikkema RS, Oude Munnink B, Koopmans M, Brytting M, Sudha Rani V, Pavani S, Smura T, Heim A, Kurkela S, Umair M, Salman M, Bartolini B, Rueca M, Drosten C, Wolff T, Silander O, Eggink D, Reusken C, Vennema H, Park A, Carrington C, Sahadeo N, Carr M, Gonzalez G; SEARCH Alliance San Diego; National Virus Reference Laboratory; SeqCOVID-Spain; Danish Covid-19 Genome Consortium (DCGC); Communicable Diseases Genomic Network (CDGN); Dutch National SARS-CoV-2 surveillance program; Division of Emerging Infectious Diseases (KDCA), de Oliveira T, Faria N, Rambaut A, Kraemer MUG

September 2021

A single-cell and spatially resolved atlas of human breast cancers.

2021 Sep;53(9):1334-1347 Q1 Genetics (SJR)

Wu SZ, Al-Eryani G, Roden DL, Junankar S, Harvey K, Andersson A, Thennavan A, Wang C, Torpy JR, Bartonicek N, Wang T, Larsson L, Kaczorowski D, Weisenfeld NI, Uytingco CR, Chew JG, Bent ZW, Chan CL, Gnanasambandapillai V, Dutertre CA, Gluch L, Hui MN, Beith J, Parker A, Robbins E, Segara D, Cooper C, Mak C, Chan B, Warrier S, Ginhoux F, Millar E, Powell JE, Williams SR, Liu XS, O'Toole S, Lim E, Lundeberg J, Perou CM, Swarbrick A

September 2021

Intravital imaging technology guides FAK-mediated priming in pancreatic cancer precision medicine according to Merlin status.

2021 Oct;7(40): eabh0363 Q1 Multidisciplinary (SJR)

Murphy KJ, Reed DA, Vennin C, Conway JRW, Nobis M, Yin JX, Chambers CR, Pereira BA, Lee V, Filipe EC, Trpceski M, Ritchie S, Lucas MC, Warren SC, Skhinas JN, Magenau A, Metcalf XL, Stoehr J, Major G, Parkin A, Bidanel R, Lyons RJ, Zaratzian A, Tayao M, Da Silva A, Abdulkhalek L; Australian Pancreatic Genome Initiative (APGI); Australian Pancreatic Cancer Matrix Atlas (APMA), Gill AJ, Johns AL, Biankin AV, Samra J, Grimmond SM, Chou A, Goetz JG, Samuel MS, Lyons JG, Burgess A, Caldon CE, Horvath LG, Daly RJ, Gadegaard N, Wang Y, Sansom OJ, Morton JP, Cox TR, Pajic M, Herrmann D, Timpson P

August 2021

Global guideline for the diagnosis and management of rare yeast infections: an initiative of the ECMM in cooperation with ISHAM and ASM.

Lancet Infect Dis 2021 Aug 19: S1473-3099(21)00203-6 Q1 Infectious Diseases (SJR)

Chen SC, Perfect J, Colombo AL, Cornely OA, Groll AH, Seidel D, Albus K, de Almedia JN Jr, Garcia-Effron G, Gilroy N, Lass-Flörl C, Ostrosky-Zeichner L, Pagano L, Papp T, Rautemaa-Richardson R, Salmanton-García J, Spec A, Steinmann J, Arikan-Akdagli S, Arenz DE, Sprute R, Duran-Graeff L, Freiberger T, Girmenia C, Harris M, Kanj SS, Roudbary M, Lortholary O, Meletiadis J, Segal E, Tuon FF, Wiederhold N, Bicanic T, Chander J, Chen YC, Hsueh PR, Ip M, Munoz P, Spriet I, Temfack E, Thompson L, Tortorano AM, Velegraki A, Govender NP

August 2021

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.

J Allergy Clin Immunol 2021 Aug;148(2):381-393 Q1 Immunology (SJR)

Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J

July 2021

Harmonized D‑dimer levels upon admission for prognosis of COVID-19 severity: Results from a Spanish multicenter registry (BIOCOVID-Spain study).

J Thromb Thrombolysis 2021 Jul 16:1-10 Q2 Cardiology and Cardiovascular Medicine (SJR)

García de Guadiana-Romualdo L, Morell-García D, Favaloro EJ, Vílchez JA, Bauça JM, Alcaide Martín MJ, Gutiérrez Garcia I, de la Hera Cagigal P, Egea-Caparrós JM, Pérez Sanmartín S, Gutiérrez Revilla JI, Urrechaga E, Álamo JM, Hernando Holgado AM, Lorenzo-Lozano MC, Canalda Campás M, Juncos Tobarra MA, Morales-Indiano C, Vírseda Chamorro I, Pastor Murcia Y, Sahuquillo Frías L, Altimira Queral L, Nuez-Zaragoza E, Adell Ruiz de León J, Ruiz Ripa A, Salas Gómez-Pablos P, Cebreiros López I, Fernández Uriarte A, Larruzea A, López Yepes ML, Sancho-Rodríguez N, Zamorano Andrés MC, Pedregosa Díaz J, Sáenz L, Esparza Del Valle C, Baamonde Calzada MC, García Muñoz S, Vera M, Martín Torres E, Sánchez Fdez-Pacheco S, Vicente Gutiérrez L, Jiménez Añón L, Pérez Martínez A, Pons Castillo A, González Tamayo R, Férriz Vivancos J, Rodríguez-Fraga O, Díaz-Brito V, Aguadero V, García Arévalo MG, Arnaldos Carrillo M, González Morales M, Núñez Gárate M, Ruiz Iruela C, Esteban Torrella P, Vila Pérez M, Acevedo Alcaraz C, Blázquez-Manzanera AL, Galán Ortega A

July 2021

Genomics-informed responses in the elimination of COVID-19 in Victoria, Australia: an observational, genomic epidemiological study.

Lancet Public Health 2021 Aug;6(8): e547-e556 Q1 Public Health, Environmental and Occupational Health (SJR)

Lane CR, Sherry NL, Porter AF, Duchene S, Horan K, Andersson P, Wilmot M, Turner A, Dougall S, Johnson SA, Sait M, Gonçalves da Silva A, Ballard SA, Hoang T, Stinear TP, Caly L, Sintchenko V, Graham R, McMahon J, Smith D, Leong LE, Meumann EM, Cooley L, Schwessinger B, Rawlinson W, van Hal SJ, Stephens N, Catton M, Looker C, Crouch S, Sutton B, Alpren C, Williamson DA, Seemann T, Howden BP

July 2021

SARS-CoV‑2 neutralizing antibodies: Longevity, breadth, and evasion by emerging viral variants.

PLoS Med 2021 Jul 6;18(7): e1003656 Q1 Biochemistry (SJR)

Tea F, Ospina Stella A, Aggarwal A, Ross Darley D, Pilli D, Vitale D, Merheb V, Lee FXZ, Cunningham P, Walker GJ, Fichter C, Brown DA, Rawlinson WD, Isaacs SR, Mathivanan V, Hoffmann M, Pöhlman S, Mazigi O, Christ D, Dwyer DE, Rockett RJ, Sintchenko V, Hoad VC, Irving DO, Dore GJ, Gosbell IB, Kelleher AD, Matthews GV, Brilot F, Turville SG

July 2021

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Hum Genet 2021 Jul;140(7):1061-1076 Q1 Genetics (SJR)

Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ

July 2021

New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.

Mod Pathol 2021 Jul;34(7):1392-1424 Q1 Pathology and Forensic Medicine (SJR)

Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Gill AJ

Skip to content