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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

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.

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.

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

January 1970

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

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

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

August 2022

Effect of Aspirin vs Enoxaparin on Symptomatic Venous Thromboembolism in Patients Undergoing Hip or Knee Arthroplasty: The CRISTAL Randomized Trial

JAMA. 2022 Aug 23;328(8):719-727. Q1 Medicine (miscellaneous) (SJR)

CRISTAL Study Group, Sidhu VS, Kelly TL, Pratt N, Graves SE, Buchbinder R, Adie S, Cashman K, Ackerman I, Bastiras D, Brighton R, Burns AWR, Chong BH, Clavisi O, Cripps M, Dekkers M, de Steiger R, Dixon M, Ellis A, Griffith EC, Hale D, Hansen A, Harris A, Hau R, Horsley M, James D, Khorshid O, Kuo L, Lewis P, Lieu D, Lorimer M, MacDessi S, McCombe P, McDougall C, Mulford J, Naylor JM, Page RS, Radovanovic J, Solomon M, Sorial R, Summersell P, Tran P, Walter WL, Webb S, Wilson C, Wysocki D, Harris IA

August 2022

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Eur J Hum Genet. 2022 Aug 15. Q1 Genetics (SJR)

Ewans LJ, Minoche AE, Schofield D, Shrestha R, Puttick C, Zhu Y, Drew A, Gayevskiy V, Elakis G, Walsh C, Adès LC, Colley A, Ellaway C, Evans CA, Freckmann ML, Goodwin L, Hackett A, Kamien B, Kirk EP, Lipke M, Mowat D, Palmer E, Rajagopalan S, Ronan A, Sachdev R, Stevenson W, Turner A, Wilson M, Worgan L, Morel-Kopp MC, Field M, Buckley MF, Cowley MJ, Dinger ME, Roscioli T

August 2022

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

Ann Neurol. 2022 Aug 10. Q1 Neurology (SJR)

Helman G, Zarekiani P, Tromp SAM, Andrews A, Botto LD, Bonkowsky JL, Chassevent A, Giorgio E, Pippucci T, Wei S, Smith-Hicks C, Vaula G, Willemsen MAAP, Schimmel M, Vollert K, Shimizu F, Kanda T, Lynch M, Roscioli T, Taft RJ, Simons C, Bugiani M, Kuijpers TW, van der Knaap MS

August 2022

Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis

Nat Commun. 2022 Aug 6;13(1):4587. Q1 Biochemistry, Genetics and Molecular Biology (SJR)

Papanicolaou M, Parker AL, Yam M, Filipe EC, Wu SZ, Chitty JL, Wyllie K, Tran E, Mok E, Nadalini A, Skhinas JN, Lucas MC, Herrmann D, Nobis M, Pereira BA, Law AMK, Castillo L, Murphy KJ, Zaratzian A, Hastings JF, Croucher DR, Lim E, Oliver BG, Mora FV, Parker BL, Gallego-Ortega D, Swarbrick A, O'Toole S, Timpson P, Cox TR

August 2022

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Genet Med. 2022 Aug 1: S1098-3600(22)00803-6. Q1 Genetics (clinical) (SJR)

Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T

September 2022

Obesity is associated with altered tumor metabolism in metastatic melanoma

Clin Cancer Res. 2022 Sep 27:CCR-22-2661. Q1 Cancer Research

Hahn AW, Menk AV, Rivadeneira DB, Augustin RC, Xu M, Li J, Wu X, Mishra AK, Gide TN, Quek C, Zang Y, Spencer CN, Menzies AM, Daniel CR, Hudgens CW, Nowicki T, Haydu LE, Khan MAW, Gopalakrishnan V, Burton EM, Malke J, Simon JM, Bernatchez C, Putluri N, Woodman SE, Gopal Y N V, Guerrieri R, Fischer GM, Wang J, Wani KM, Thompson JF, Lee JE, Hwu P, Ajami N, Gershenwald JE, Long GV, Scolyer RA, Tetzlaff MT, Lazar AJ, Schadendorf D, Wargo JA, Kirkwood JM, DeBerardinis RJ, Liang H, Futreal A, Zhang J, Wilmott JS, Peng W, Davies MA, Delgoffe GM, Najjar YG, McQuade JL

September 2022

Longitudinal Characterization of Phagocytic and Neutralization Functions of Anti-Spike Antibodies in Plasma of Patients after Severe Acute Respiratory Syndrome Coronavirus 2 Infection

J Immunol. 2022 Sep 9:ji2200272. Q1 Immunology

Adhikari A, Abayasingam A, Rodrigo C, Agapiou D, Pandzic E, Brasher NA, Fernando BSM, Keoshkerian E, Li H, Kim HN, Lord M, Popovic G, Rawlinson W, Mina M, Post JJ, Hudson B, Gilroy N, Dwyer D, Sasson SC, Grubor-Bauk B, Lloyd AR, Martinello M, Bull RA, Tedla N; COSIN Study Group

September 2022

Thermoresponsive and Injectable Hydrogel for Tissue Agnostic Regeneration

Adv Healthc Mater. 2022 Sep 23:e2201714. Q1 Biomaterials

Calder D, Fathi A, Oveissi F, Maleknia S, Abrams T, Wang Y, Maitz J, Tsai KH, Maitz P, Chrzanowski W, Canoy I, Ashoka V, Menon, Lee K, Ahern BJ, Lean NE, Silva DM, Young PM, Traini D, Ong HX, Mahmoud RS, Montazerian H, Khademhosseini A, Dehghani F

September 2022

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Am J Med Genet A. 2022 Sep 22. Q2 Genetics

Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA

September 2022

SARS-CoV‑2 Omicron BA.5: Evolving tropism and evasion of potent humoral responses and resistance to clinical immunotherapeutics relative to viral variants of concern

EBioMedicine. 2022 Sep 18;84:104270. Q1 Biochemistry, Genetics and Molecular Biology

Aggarwal A, Akerman A, Milogiannakis V, Silva MR, Walker G, Stella AO, Kindinger A, Angelovich T, Waring E, Amatayakul-Chantler S, Roth N, Manni S, Hauser T, Barnes T, Condylios A, Yeang M, Wong M, Jean T, Foster CSP, Christ D, Hoppe AC, Munier ML, Darley D, Churchill M, Stark DJ, Matthews G, Rawlinson WD, Kelleher AD, Turville SG

September 2022

Assessment of immunological anti-platelet factor 4 antibodies for vaccine-induced thrombotic thrombocytopenia (VITT) in a large Australian cohort: A multicenter study comprising 1284 patients

J Thromb Haemost. 2022 Sep 15. Q1 Hematology

Favaloro EJ, Clifford J, Leitinger E, Parker M, Sung P, Chunilal S, Tran H, Kershaw G, Fu S, Passam F, Ahuja M, Ho SJ, Duncan E, Yacoub O, Tan CW, Kaminskis L, Modica N, Pepperell D, Ballard L, Clarke L, Lee CSM, Gardiner EE, Young-Ill Choi P, Tohidi-Esfahani I, Bird R, Brighton T, Chen VM

September 2022

Comparative genomics provides etiological and biological insights into melanoma subtypes

Cancer Discov. 2022 Sep 13:CD-22-0603. Q1 Oncology

Newell F, Johansson PA, Wilmott JS, Nones K, Lakis V, Pritchard AL, Lo SN, Rawson RV, Kazakoff SH, Colebatch AJ, Koufariotis LT, Ferguson PM, Wood S, Leonard C, Law MH, Brooks KM, Broit N, Palmer JM, Couts KL, Vergara IA, Long GV, Barbour AP, Nieweg OE, Shivalingam B, Robinson WA, Stretch JR, Spillane AJ, Saw RPM, Shannon KF, Thompson JF, Mann GJ, Pearson JV, Scolyer RA, Waddell N, Hayward NK

September 2022

African-specific molecular taxonomy of prostate cancer

Nature. 2022 Sep;609(7927):552-559. Q1 Multidiscipinary

Jaratlerdsiri W, Jiang J, Gong T, Patrick SM, Willet C, Chew T, Lyons RJ, Haynes AM, Pasqualim G, Louw M, Kench JG, Campbell R, Horvath LG, Chan EKF, Wedge DC, Sadsad R, Brum IS, Mutambirwa SBA, Stricker PD, Bornman MSR, Hayes VM

October 2022

Reply to Yongbao Wei, Haijian Huang, and Liefu Ye’s Letter to the Editor re: George J. Netto, Mahul B. Amin, Daniel M. Berney, et al. The 2022 World Health Organization Classification of Tumors of the Urinary System and Male Genital Organs-Part B: Prostate and Urinary Tract Tumors. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2022.07.002

Eur Urol. 2022 Oct 4: S0302-2838(22)02697-5. Q1 Urology

Rubin MA, Amin MB, Compérat E, Gill A, Hartman A, Menon S, Raspollini M, Srigley J, Tan PH, Ticktoo S, Tsuzuki T, Turajlic S, Cree I, Berney D, Moch H, Netto GJ

November 2022

Global disparities in SARS-CoV‑2 genomic surveillance

Nat Commun. 2022 Nov 16;13(1):7003. Q1 Biochemistry, Genetics and Molecular Biology

Brito AF, Semenova E, Dudas G, Hassler GW, Kalinich CC, Kraemer MUG, Ho J, Tegally H, Githinji G, Agoti CN, Matkin LE, Whittaker C; Bulgarian SARS-CoV-2 sequencing group; Communicable Diseases Genomics Network (Australia and New Zealand); COVID-19 Impact Project; Danish Covid-19 Genome Consortium; Fiocruz COVID-19 Genomic Surveillance Network; GISAID core curation team; Network for Genomic Surveillance in South Africa (NGS-SA); Swiss SARS-CoV-2 Sequencing Consortium, Howden BP, Sintchenko V, Zuckerman NS, Mor O, Blankenship HM, de Oliveira T, Lin RTP, Siqueira MM, Resende PC, Vasconcelos ATR, Spilki FR, Aguiar RS, Alexiev I, Ivanov IN, Philipova I, Carrington CVF, Sahadeo NSD, Branda B, Gurry C, Maurer-Stroh S, Naidoo D, von Eije KJ, Perkins MD, van Kerkhove M, Hill SC, Sabino EC, Pybus OG, Dye C, Bhatt S, Flaxman S, Suchard MA, Grubaugh ND, Baele G, Faria NR

November 2022

Response to Li and Sun

Genet Med. 2022 Nov 14:S1098-3600(22)00972-8. Q1 Genetics (clinical)

Freeman L, Delatycki MB, Scully JL, Kirk EP

November 2022

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. Q1 Genetics

Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium

November 2022

Diet-driven microbial ecology underpins associations between cancer immunotherapy outcomes and the gut microbiome

Nat Med. 2022 Nov;28(11):2344-2352. Q1 Biochemistry, Genetics and Molecular Biology

Simpson RC, Shanahan ER, Batten M, Reijers ILM, Read M, Silva IP, Versluis JM, Ribeiro R, Angelatos AS, Tan J, Adhikari C, Menzies AM, Saw RPM, Gonzalez M, Shannon KF, Spillane AJ, Velickovic R, Lazar AJ, Damania AV, Mishra AK, Chelvanambi M, Banerjee A, Ajami NJ, Wargo JA, Macia L, Holmes AJ, Wilmott JS, Blank CU, Scolyer RA, Long GV

November 2022

Landscape of mutations in early stage primary cutaneous melanoma: An InterMEL study.

Pigment Cell Melanoma Res. 2022 Nov;35(6):605-612. Q1 Biochemistry, Genetics and Molecular Biology

Luo L, Shen R, Arora A, Orlow I, Busam KJ, Lezcano C, Lee TK, Hernando E, Gorlov I, Amos C, Ernstoff MS, Seshan VE, 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; InterMEL

November 2022

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

J Hosp Infect. 2022 Nov;129:41-48. Q1 Infectious Diseases

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) and One Health Understanding Through Bacterial Resistance to Antibiotics Knowledge (OUTBREAK) Consortium

December 2022

A tribute to Prof. Ondrej Hes, MD, PhD (1968–2022).

Mod Pathol. 2022 Dec;35(12):2023-2024. Q1 Pathology and Forensic Medicine (SJR).

Alaghehbandan R, Agaimy A, Ali L, Alvarado-Cabrero I, Amin MB, Boudova L, Caliò A, Comperat EM, Damjanov I, Daum O, Farcas M, Gatalica Z, Gill AJ, Hartmann A, Hayes MM, Hora M, Kojima F, Kristiansen G, Kuroda N, López JI, Maclean F, Magi-Galluzzi C, Martignoni G, McKenney JK, Michalová K, Michal M, Mohanty SK, Netto GJ, Ohashi R, Ondič O, Osunkoya AO, Gomez MDPM, Petersson F, Picken MM, Pivovarcikova K, Rogala J, Shah RB, Siadat F, Skenderi F, Sperga M, Suster SM, Svajdler M, Tretiakova M, Trpkov K, Ulamec M, Williamson SR, Yang XJ, Zhou M, Vranic S, Vujanic G, Michal M.

February 2023

The Ring Study: an international comparison of PD-L1 diagnostic assays and their interpretation in non-small cell lung cancer, head and neck squamous cell cancer and urothelial cancer.

Pathology. 2023 Feb;55(1):19-30. Q1 Pathology and Forensic Medicine (SJR).

Yu SL, Hsiao YJ, Cooper WA, Choi YL, Avilés-Salas A, Chou TY, Coudry R, Raskin GA, Fox SB, Huang CC, Jeon YK, Ko YH, Ku WH, Kwon GY, Leslie C, Lin MC, Lou PJ, Scapulatempo-Neto C, Mendoza Ramírez S, Savelov N, Shim HS, Lara Torres CO, Cunha IW, Zavalishina L, Chen YM.

February 2023

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

Biopreserv Biobank. 2023 Feb;21(1):111-113. 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.

March 2023

Blockade of ROS production inhibits oncogenic signaling in acute myeloid leukemia and amplifies response to precision therapies.

Sci Signal. 2023 Mar 28;16(778):eabp9586. Q1 Biochemistry (SJR).

Germon ZP, Sillar JR, Mannan A, Duchatel RJ, Staudt D, Murray HC, Findlay IJ, Jackson ER, McEwen HP, Douglas AM, McLachlan T, Schjenken JE, Skerrett-Byrne DA, Huang H, Melo-Braga MN, Plank MW, Alvaro F, Chamberlain J, De Iuliis G, Aitken RJ, Nixon B, Wei AH, Enjeti AK, Huang Y, Lock RB, Larsen MR, Lee H, Vaghjiani V, Cain JE, de Bock CE, Verrills NM, Dun MD.

March 2023

REPLY to MS#JAAD-D-23–00002R1.

J Am Acad Dermatol. 2023 Mar 17:S0190-9622(23)00440-1. Q1 Dermatology (SJR).

El Sharouni MA, Lo SN, Scolyer RA, van Gils CH, Thompson JF.

March 2023

A composite serum biomarker index for the diagnosis of systemic sclerosis interstitial lung disease: a multicentre, observational, cohort study.

Arthritis Rheumatol. 2023 Mar 12. Q1 Immunology (SJR).

Jee AS, Stewart I, Youssef P, Adelstein S, Lai D, Hua S, Stevens W, Proudman S, Ngian GS, Glaspole IN, Moodley YP, Bleasel JF, Macansh S, Nikpour M, Sahhar J, Corte TJ; Australian Scleroderma Cohort Study, Australian Scleroderma Interest Group, Australian Idiopathic Pulmonary Fibrosis Registry, and associated investigators.

March 2023

Development of the oral resistome during the first decade of life.

Nat Commun. 2023 Mar 9;14(1):1291. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Sukumar S, Wang F, Simpson CA, Willet CE, Chew T, Hughes TE, Bockmann MR, Sadsad R, Martin FE, Lydecker HW, Browne GV, Davis KM, Bui M, Martinez E, Adler CJ.

March 2023

Australian Genomics: Outcomes of a 5‑year national program to accelerate the integration of genomics in healthcare.

Am J Hum Genet. 2023 Mar 2;110(3):419-426. Q1 Genetics (SJR).

Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN.

March 2023

Nicotinamide for Skin-Cancer Chemoprevention in Transplant Recipients.

N Engl J Med. 2023 Mar 2;388(9):804-812. Q1 Medicine (miscellaneous (SJR)).

Allen NC, Martin AJ, Snaidr VA, Eggins R, Chong AH, Fernandéz-Peñas P, Gin D, Sidhu S, Paddon VL, Banney LA, Lim A, Upjohn E, Schaider H, Ganhewa AD, Nguyen J, McKenzie CA, Prakash S, McLean C, Lochhead A, Ibbetson J, Dettrick A, Landgren A, Allnutt KJ, Allison C, Davenport RB, Mumford BP, Wong B, Stagg B, Tedman A, Gribbin H, Edwards HA, De Rosa N, Stewart T, Doolan BJ, Kok Y, Simpson K, Low ZM, Kovitwanichkanont T, Scolyer RA, Dhillon HM, Vardy JL, Chadban SJ, Bowen DG, Chen AC, Damian DL.

March 2023

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

Am J Hum Genet. 2023 Mar 2;110(3):499-515. Q1 Genetics (SJR).

Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE.

March 2023

The current state of laboratory mycology in Asia/Pacific: A survey from the European Confederation of Medical Mycology (ECMM) and International Society for Human and Animal Mycology (ISHAM).

Int J Antimicrob Agents. 2023 Mar;61(3):106718. Q1 Infectious Diseases (SJR).

Salmanton-García J, Au WY, Hoenigl M, Chai LYA, Badali H, Basher A, Brockhoff RA, Chen SC, Chindamporn A, Chowdhary A, Heath CH, Jabeen K, Lee J, Matar M, Taj-Aldeen SJ, Tan BH, Uno K, Wahyuningsih R, Zhu L, Chakrabarti A, Cornely OA.

April 2023

The evolution and international spread of extensively drug resistant Shigella sonnei.

Nat Commun. 2023 Apr 8;14(1):1983. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Mason LCE, Greig DR, Cowley LA, Partridge SR, Martinez E, Blackwell GA, Chong CE, De Silva PM, Bengtsson RJ, Draper JL, Ginn AN, Sandaradura I, Sim EM, Iredell JR, Sintchenko V, Ingle DJ, Howden BP, Lefèvre S, Njamkepo E, Weill FX, Ceyssens PJ, Jenkins C, Baker KS.

April 2023

A novel transcriptional signature identifies T‑cell infiltration in high-risk paediatric cancer.

Genome Med. 2023 Apr 3;15(1):20. Q1 Genetics (SJR).

Mayoh C, Gifford AJ, Terry R, Lau LMS, Wong M, Rao P, Shai-Hee T, Saletta F, Khuong-Quang DA, Qin V, Mateos MK, Meyran D, Miller KE, Yuksel A, Mould EVA, Bowen-James R, Govender D, Senapati A, Zhukova N, Omer N, Dholaria H, Alvaro F, Tapp H, Diamond Y, Pozza LD, Moore AS, Nicholls W, Gottardo NG, McCowage G, Hansford JR, Khaw SL, Wood PJ, Catchpoole D, Cottrell CE, Mardis ER, Marshall GM, Tyrrell V, Haber M, Ziegler DS, Vittorio O, Trapani JA, Cowley MJ, Neeson PJ, Ekert PG.

April 2023

rMEL: An international biorepository and clinical database to uncover predictors of survival in early-stage melanoma.

PLoS One. 2023 Apr 3;18(4): e0269324. Q1 Multidisciplinary (SJR).

Orlow I, Sadeghi KD, Edmiston SN, Kenney JM, Lezcano C, Wilmott JS, Cust AE, Scolyer RA, Mann GJ, Lee TK, Burke H, Jakrot V, Shang P, Ferguson PM, Boyce TW, Ko JS, Ngo P, Funchain P, Rees JR, O'Connell K, Hao H, Parrish E, Conway K, Googe PB, Ollila DW, Moschos SJ, Hernando E, Hanniford D, Argibay D, Amos CI, Lee JE, Osman I, Luo L, Kuan PF, Aurora A, Gould Rothberg BE, Bosenberg MW, Gerstenblith MR, Thompson C, Bogner PN, Gorlov IP, Holmen SL, Brunsgaard EK, Saenger YM, Shen R, Seshan V, Nagore E, Ernstoff MS, Busam KJ, Begg CB, Thomas NE, Berwick M; InterMEL Consortium.

April 2023

Emergence and antibody evasion of BQ, BA.2.75 and SARS-CoV‑2 recombinant sub-lineages in the face of maturing antibody breadth at the population level.

EBioMedicine. 2023 Apr;90:104545. Q1 Biochemistry, Genetics and Molecular Biology (miscellaneous (SJR)).

Akerman A, Milogiannakis V, Jean T, Esneau C, Silva MR, Ison T, Fichter C, Lopez JA, Chandra D, Naing Z, Caguicla J, Li D, Walker G, Amatayakul-Chantler S, Roth N, Manni S, Hauser T, Barnes T, Condylios A, Yeang M, Wong M, Foster CSP, Sato K, Lee S, Song Y, Mao L, Sigmund A, Phu A, Vande More AM, Hunt S, Douglas M, Caterson I, Britton W, Sandgren K, Bull R, Lloyd A, Triccas J, Tangye S, Bartlett NW, Darley D, Matthews G, Stark DJ, Petoumenos K, Rawlinson WD, Murrell B, Brilot F, Cunningham AL, Kelleher AD, Aggarwal A, Turville SG.

April 2023

Defining Morphologic Features of Invasion in Pulmonary Nonmucinous Adenocarcinoma With Lepidic Growth: A Proposal by the International Association for the Study of Lung Cancer Pathology Committee.

J Thorac Oncol. 2023 Apr;18(4):447-462. Q1 Medicine (miscellaneous (SJR)).

Thunnissen E, Beasley MB, Borczuk A, Dacic S, Kerr KM, Lissenberg-Witte B, Minami Y, Nicholson AG, Noguchi M, Sholl L, Tsao MS, Le Quesne J, Roden AC, Chung JH, Yoshida A, Moreira AL, Lantuejoul S, Pelosi G, Poleri C, Hwang D, Jain D, Travis WD, Brambilla E, Chen G, Botling J, Bubendorf L, Mino-Kenudson M, Motoi N, Chou TY, Papotti M, Yatabe Y, Cooper W; Invasion Working Group.

May 2023

Current epidemiology and clinical features of Cryptococcus infection in patients without HIV infection: a multicentre study in 46 hospitals from Australia and New Zealand.

Clin Infect Dis. 2023 May 26:ciad321.

Coussement J, Heath CH, Roberts MB, Lane RJ, Spelman T, Smibert OC, Longhitano A, Morrissey O, Nield B, Tripathy M, Davis JS, Kennedy KJ, Lynar SA, Crawford LC, Crawford SJ, Smith BJ, Gador-Whyte AP, Haywood R, Mahony AA, Howard JC, Walls GB, O'Kane GM, Broom MT, Keighley CL, Bupha-Intr O, Cooley L, O'Hern JA, Jackson JD, Morris AJ, Bartolo C, Tramontana AR, Grimwade KC, Au Yeung V, Chean R, Woolnough E, Teh BW, Chen SC, Slavin MA; Australian and New Zealand study group for cryptococcosis in patients without HIV infection.

May 2023

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

Am J Med Genet A. 2023 May;191(5):1227-1239.

Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC.

June 2023

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Am J Hum Genet. 2023 Jun 1;110(6):963-978.

Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G, Küpper H, Petit F, Ibrahim V, Top D, Di Cara F; Genomics England Research Consortium; Louie RJ, Stolerman E, Brunner HG, Vissers LELM, Kramer JM, Kleefstra T.

 

June 2023

International survey of antibiotic dosing and monitoring in adult intensive care units.

Crit Care. 2023 Jun 19;27(1):241.

Williams PG, Tabah A, Cotta MO, Sandaradura I, Kanji S, Scheetz MH, Imani S, Elhadi M, Luque-Pardos S, Schellack N, Sanches C, Timsit JF, Xie J, Farkas A, Wilks K, Roberts JA; National Coordinators on behalf of the European Society of Intensive Care Medicine (ESICM) and the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Study Group for Infections in Critically Ill Patients [ESGCIP].

July 2023

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.

Genet Med. 2023 Jul;25(7):100861.

Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K.

July 2023

Longer-term Mortality and Kidney Outcomes of Participants in the Combination Antibiotics for Methicillin-Resistant Staphylococcus aureus (CAMERA2) Trial: A Post Hoc Analysis.

Open Forum Infect Dis. 2023 Jul 3;10(7):ofad337.

Legg A, Roberts MA, Davies J, Cass A, Meagher N, Sud A, Daitch V, Dishon Benattar Y, Yahav D, Paul M, Xinxin C, Ping YH, Lye D, Lee R, Robinson JO, Foo H, Tramontana AR, Bak N, Grenfell A, Rogers B, Li Y, Joshi N, O'Sullivan M, McKew G, Ghosh N, Schneider K, Holmes NE, Dotel R, Chia T, Archuleta S, Smith S, Warner MS, Titin C, Kalimuddin S, Roberts JA, Tong SYC, Davis JS; Combination Antibiotics for Methicillin-Resistant Staphylococcus aureus (CAMERA2) Study Group.

August 2023

Cutaneous melanoma.

Lancet. 2023 Aug 5;402(10400):485-502.

Long GV, Swetter SM, Menzies AM, Gershenwald JE, Scolyer RA.

August 2023

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Am J Hum Genet. 2023 Aug 3;110(8):1356-1376.

Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R.

August 2023

High-Throughput Drug Screening of Primary Tumor Cells Identifies Therapeutic Strategies for Treating Children with High-Risk Cancer.

Cancer Res. 2023 Aug 15;83(16):2716-2732.

Mayoh C, Mao J, Xie J, Tax G, Chow SO, Cadiz R, Pazaky K, Barahona P, Ajuyah P, Trebilcock P, Malquori A, Gunther K, Avila A, Yun DY, Alfred S, Gopalakrishnan A, Kamili A, Wong M, Cowley MJ, Jessop S, Lau LMS, Trahair TN, Ziegler DS, Fletcher JI, Gifford AJ, Tsoli M, Marshall GM, Haber M, Tyrrell V, Failes TW, Arndt GM, Lock RB, Ekert PG, Dolman MEM.

August 2023

A Composite Serum Biomarker Index for the Diagnosis of Systemic Sclerosis-Associated Interstitial Lung Disease: A Multicenter, Observational Cohort Study.

Arthritis Rheumatol. 2023 Aug;75(8):1424-1433.

Jee AS, Stewart I, Youssef P, Adelstein S, Lai D, Hua S, Stevens W, Proudman S, Ngian GS, Glaspole IN, Moodley YP, Bleasel JF, Macansh S, Nikpour M, Sahhar J, Corte TJ; Australian Scleroderma Cohort Study, Australian Scleroderma Interest Group, Australian Idiopathic Pulmonary Fibrosis Registry, and associated investigators.

August 2023

Cytomegalovirus cyclin-dependent kinase ortholog vCDK/pUL97 undergoes regulatory interaction with human cyclin H and CDK7 to codetermine viral replication efficiency. Schütz M, Wangen C, Sommerer M, Kögler M, Eickhoff J, Degenhart C, Klebl B, Naing Z, Egilmezer E, Hamilton ST, Rawlinson WD, Sticht H, Marschall M. Virus Res. 2023 Oct 2;335:199200. doi: 10.1016/j.virusres.2023.199200. Epub 2023 Aug 19. PMID: 37591314 Free PMC article.

Virus Res. 2023 Oct 2;335:199200.

Schütz M, Wangen C, Sommerer M, Kögler M, Eickhoff J, Degenhart C, Klebl B, Naing Z, Egilmezer E, Hamilton ST, Rawlinson WD, Sticht H, Marschall M.

September 2023

Trends in invasive bacterial diseases during the first 2 years of the COVID-19 pandemic: analyses of prospective surveillance data from 30 countries and territories in the IRIS Consortium.

Lancet Digit Health. 2023 Sep;5(9):e582-e593.

Shaw D, Abad R, Amin-Chowdhury Z, Bautista A, Bennett D, Broughton K, Cao B, Casanova C, Choi EH, Chu YW, Claus H, Coelho J, Corcoran M, Cottrell S, Cunney R, Cuypers L, Dalby T, Davies H, de Gouveia L, Deghmane AE, Demczuk W, Desmet S, Domenech M, Drew R, du Plessis M, Duarte C, Erlendsdóttir H, Fry NK, Fuursted K, Hale T, Henares D, Henriques-Normark B, Hilty M, Hoffmann S, Humphreys H, Ip M, Jacobsson S, Johnson C, Johnston J, Jolley KA, Kawabata A, Kozakova J, Kristinsson KG, Krizova P, Kuch A, Ladhani S, Lâm TT, León ME, Lindholm L, Litt D, Maiden MCJ, Martin I, Martiny D, Mattheus W, McCarthy ND, Meehan M, Meiring S, Mölling P, Morfeldt E, Morgan J, Mulhall R, Muñoz-Almagro C, Murdoch D, Murphy J, Musilek M, Mzabi A, Novakova L, Oftadeh S, Perez-Argüello A, Pérez-Vázquez M, Perrin M, Perry M, Prevost B, Roberts M, Rokney A, Ron M, Sanabria OM, Scott KJ, Sheppard C, Siira L, Sintchenko V, Skoczyńska A, Sloan M, Slotved HC, Smith AJ, Steens A, Taha MK, Toropainen M, Tzanakaki G, Vainio A, van der Linden MPG, van Sorge NM, Varon E, Vohrnova S, von Gottberg A, Yuste J, Zanella R, Zhou F, Brueggemann AB.

September 2023

Beyond the Global Brain Differences: Intra-individual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.

Biol Psychiatry. 2023 Sep 1:S0006-3223(23)01530-5.

Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Facorro BC, Dannlowski U, David FS, de Geus EJC, de Zubicaray GI, Desrivières S, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Forstner AJ, Uyà LF, Frouin V, Fukunaga M, Ge T, Glahn DC, Goltermann J, Grabe HJ, Green MJ, Groenewold NA, Grotegerd D, Hahn T, Hashimoto R, Hehir-Kwa JY, Henskens FA, Holmes AJ, Haberg AK, Haavik J, Jacquemont S, Jansen A, Jockwitz C, Jonsson EG, Kikuchi M, Kircher T, Kumar K, Le Hellard S, Leu C, Linden DE, Liu J, Loughnan R, Mather KA, McMahon KL, McRae AF, Medland SE, Meinert S, Moreau CA, Morris DW, Mowry BJ, Muhleisen TW, Nenadić I, Nöthen MM, Nyberg L, Owen MJ, Paolini M, Paus T, Pausova Z, Persson K, Quidé Y, Marques TR, Sachdev PS, Sando SB, Schall U, Scott RJ, Selbæk G, Shumskaya E, Silva AI, Sisodiya SM, Stein F, Stein DJ, Straube B, Streit F, Strike LT, Teumer A, Teutenberg L, Thalamuthu A, Tooney PA, Tordesillas-Gutierrez D, Trollor JN, Ent DV', van den Bree MBM, van Haren NEM, Vazquez-Bourgon J, Volzke H, Wen W, Wittfeld K, Ching CRK, Westlye LT, Thompson PM, Bearden CE, Selmer KK, Alnæs D, Andreassen OA, Sonderby IE.

September 2023

A first-in-class pan-lysyl oxidase inhibitor impairs stromal remodeling and enhances gemcitabine response and survival in pancreatic cancer.

Nat Cancer. 2023 Sep;4(9):1326-1344.

Chitty JL, Yam M, Perryman L, Parker AL, Skhinas JN, Setargew YFI, Mok ETY, Tran E, Grant RD, Latham SL, Pereira BA, Ritchie SC, Murphy KJ, Trpceski M, Findlay AD, Melenec P, Filipe EC, Nadalini A, Velayuthar S, Major G, Wyllie K, Papanicolaou M, Ratnaseelan S, Phillips PA, Sharbeen G, Youkhana J, Russo A, Blackwell A, Hastings JF, Lucas MC, Chambers CR, Reed DA, Stoehr J, Vennin C, Pidsley R, Zaratzian A, Da Silva AM, Tayao M, Charlton B, Herrmann D, Nobis M, Clark SJ, Biankin AV, Johns AL, Croucher DR, Nagrial A, Gill AJ, Grimmond SM; Australian Pancreatic Cancer Genome Initiative (APGI); Australian Pancreatic Cancer Matrix Atlas (APMA); Pajic M, Timpson P, Jarolimek W, Cox TR.

September 2023

The clinicopathological features of thrombosis with thrombocytopenia syndrome following ChAdOx1‑S (AZD1222) vaccination and case outcomes in Australia: a population-based study.

Lancet Reg Health West Pac. 2023 Sep 4;40:100894.

Tran HA, Deng L, Wood N, Choi P, Singleton S, Clarke L, Khanlari S, Maitland-Scott I, Bird R, Brown S, Manoharan B, Tan CW, Gold M, Hissaria P, Melody S, Chunilal S SD, Buttery J, Clothier H, Crawford NW, Phuong L, Pepperell D, Effler P, Parker C, Carter N, Macartney K, McStea M, Miller T, Nissen M, Larter C, Kay E, Chen VM.

October 2023

Looking beyond workforce parity: addressing gender inequity in pathology.

Pathology. 2023 Oct;55(6):760-771.

McKenzie CA, Gupta R, Jackett L, Anderson L, Chen V, Dahlstrom JE, Dray M, Farshid G, Hemmings C, Karim R, Kench JG, Klebe S, Kramer N, Kumarasinghe P, Maclean F, Morey A, Nguyen MA, O'Toole S, Rowbotham B, Salisbury ELC, Scolyer RA, Stewart K, Waring L, Cooper CL, Cooper WA.

October 2023

Current Epidemiology and Clinical Features of Cryptococcus Infection in Patients Without Human Immunodeficiency Virus: A Multicenter Study in 46 Hospitals in Australia and New Zealand.

Clin Infect Dis. 2023 Oct 5;77(7):976-986.

Coussement J, Heath CH, Roberts MB, Lane RJ, Spelman T, Smibert OC, Longhitano A, Morrissey O, Nield B, Tripathy M, Davis JS, Kennedy KJ, Lynar SA, Crawford LC, Crawford SJ, Smith BJ, Gador-Whyte AP, Haywood R, Mahony AA, Howard JC, Walls GB, O'Kane GM, Broom MT, Keighley CL, Bupha-Intr O, Cooley L, O'Hern JA, Jackson JD, Morris AJ, Bartolo C, Tramontana AR, Grimwade KC, Au Yeung V, Chean R, Woolnough E, Teh BW, Chen SCA, Slavin MA; Australian and New Zealand Study Group for Cryptococcosis in Patients Without HIV Infection.

October 2023

Genome-wide transcription factor-binding maps reveal cell-specific changes in the regulatory architecture of human HSPCs.

Blood. 2023 Oct 26;142(17):1448-1462.

Subramanian S, Thoms JAI, Huang Y, Cornejo-Páramo P, Koch FC, Jacquelin S, Shen S, Song E, Joshi S, Brownlee C, Woll PS, Chacon-Fajardo D, Beck D, Curtis DJ, Yehson K, Antonenas V, O'Brien T, Trickett A, Powell JA, Lewis ID, Pitson SM, Gandhi MK, Lane SW, Vafaee F, Wong ES, Göttgens B, Alinejad-Rokny H, Wong JWH, Pimanda JE.

October 2023

International Association for the Study of Lung Cancer Study of Reproducibility in Assessment of Pathologic Response in Resected Lung Cancers After Neoadjuvant Therapy.

J Thorac Oncol. 2023 Oct;18(10):1290-1302.

Dacic S, Travis W, Redman M, Saqi A, Cooper WA, Borczuk A, Chung JH, Glass C, Lopez JM, Roden AC, Sholl L, Weissferdt A, Posadas J, Walker A, Zhu H, Wijeratne MT, Connolly C, Wynes M, Bota-Rabassedas N, Sanchez-Espiridion B, Lee JJ, Berezowska S, Chou TY, Kerr K, Nicholson A, Poleri C, Schalper KA, Tsao MS, Carbone DP, Ready N, Cascone T, Heymach J, Sepesi B, Shu C, Rizvi N, Sonett J, Altorki N, Provencio M, Bunn PA Jr, Kris MG, Belani CP, Kelly K, Wistuba I; IASLC Pathology Committee.

October 2023

Comparison of humans versus mobile phone-powered artificial intelligence for the diagnosis and management of pigmented skin cancer in secondary care: a multicentre, prospective, diagnostic, clinical trial.

Lancet Digit Health. 2023 Oct;5(10):e679-e691.

Menzies SW, Sinz C, Menzies M, Lo SN, Yolland W, Lingohr J, Razmara M, Tschandl P, Guitera P, Scolyer RA, Boltz F, Borik-Heil L, Herbert Chan H, Chromy D, Coker DJ, Collgros H, Eghtedari M, Corral Forteza M, Forward E, Gallo B, Geisler S, Gibson M, Hampel A, Ho G, Junez L, Kienzl P, Martin A, Moloney FJ, Regio Pereira A, Ressler JM, Richter S, Silic K, Silly T, Skoll M, Tittes J, Weber P, Weninger W, Weiss D, Woo-Sampson P, Zilberg C, Kittler H.

October 2023

Risk of Recurrence after Surgical Resection for Adenocarcinoma Arising from Intraductal Papillary Mucinous Neoplasia (IPMN) with Patterns of Distribution and Treatment: An International, Multicentre, Observational Study.

Ann Surg. 2023 Oct 24.

Lucocq J, Hawkyard J, Robertson FP, Haugk B, Lye J, Parkinson D, White S, Mownah O, Zen Y, Menon K, Furukawa T, Inoue Y, Hirose Y, Sasahira N, Feretis M, Balakrishnan A, Zelga P, Ceresa C, Davidson B, Pande R, Dasari B, Tanno L, Karavias D, Helliwell J, Young A, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, van Laarhoven S, Doyle J, Bhogal R, Harrison E, Roalso M, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Bellotti R, Stättner S, Alsaoudi T, Bhardwaj N, Jeffery F, Connor S, Cameron A, Jamieson N, Sheen A, Mittal A, Samra J, Gill A, Roberts K, Soreide K, Pandanaboyana S.

October 2023

Corrigendum: Thrombotic Microangiopathy in the Renal Allograft: Results of the TMA Banff Working Group Consensus on Pathologic Diagnostic Criteria.

Transpl Int. 2023 Oct 16;36:12047.

Afrouzian M, Kozakowski N, Liapis H, Broecker V, Truong L, Avila-Casado C, Regele H, Seshan S, Ambruzs JM, Farris AB, Buob D, Chander PN, Cheraghvandi L, Clahsen-van Groningen MC, de Almeida Araujo S, Baydar DE, Formby M, Ljubanovic DG, Hernandez LH, Honsova E, Mohamed N, Ozluk Y, Rabant M, Royal V, Stevenson HL, Toniolo MF, Taheri D.

November 2023

Vaccine value profile for cytomegalovirus.

Vaccine. 2023 Nov 3;41 Suppl 2:S53-S75.

Boppana SB, van Boven M, Britt WJ, Gantt S, Griffiths PD, Grosse SD, Hyde TB, Lanzieri TM, Mussi-Pinhata MM, Pallas SE, Pinninti SG, Rawlinson WD, Ross SA, Vossen ACTM, Fowler KB.

December 2023

Ann Surg Oncol. 2023 Dec 20.

Gjorup CA, Woodford R, Li I, Carlino MS, Ch'ng S, Chung D, Hsiao E, Lo SN, London K, Long GV, Menzies AM, Nieweg OE, Pennington TE, Rtshiladze MA, Saw RPM, Scolyer RA, Shannon KF, Spillane AJ, Stretch JR, Thompson JF, Varey AHR, van Akkooi ACJ.

November 2023

Advancing pathogen genomics in resource-limited settings.

Cell Genom. 2023 Nov 17;3(12):100443.

Pronyk PM, de Alwis R, Rockett R, Basile K, Boucher YF, Pang V, Sessions O, Getchell M, Golubchik T, Lam C, Lin R, Mak TM, Marais B, Twee-Hee Ong R, Clapham HE, Wang L, Cahyorini Y, Polotan FGM, Rukminiati Y, Sim E, Suster C, Smith GJD, Sintchenko V.

January 2024

Primary hyperparathyroidism in adults-(Part I) assessment and medical management: 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). 2024 Jan;100(1):3-18.

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

January 2024

Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.

Biol Psychiatry. 2024 Jan 15;95(2):147-160.

Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC, de Zubicaray GI, Desrivières S, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Forstner AJ, Fortaner-Uyà L, Frouin V, Fukunaga M, Ge T, Glahn DC, Goltermann J, Grabe HJ, Green MJ, Groenewold NA, Grotegerd D, Grøntvedt GR, Hahn T, Hashimoto R, Hehir-Kwa JY, Henskens FA, Holmes AJ, Håberg AK, Haavik J, Jacquemont S, Jansen A, Jockwitz C, Jönsson EG, Kikuchi M, Kircher T, Kumar K, Le Hellard S, Leu C, Linden DE, Liu J, Loughnan R, Mather KA, McMahon KL, McRae AF, Medland SE, Meinert S, Moreau CA, Morris DW, Mowry BJ, Mühleisen TW, Nenadić I, Nöthen MM, Nyberg L, Ophoff RA, Owen MJ, Pantelis C, Paolini M, Paus T, Pausova Z, Persson K, Quidé Y, Marques TR, Sachdev PS, Sando SB, Schall U, Scott RJ, Selbæk G, Shumskaya E, Silva AI, Sisodiya SM, Stein F, Stein DJ, Straube B, Streit F, Strike LT, Teumer A, Teutenberg L, Thalamuthu A, Tooney PA, Tordesillas-Gutierrez D, Trollor JN, van 't Ent D, van den Bree MBM, van Haren NEM, Vázquez-Bourgon J, Völzke H, Wen W, Wittfeld K, Ching CRK, Westlye LT, Thompson PM, Bearden CE, Selmer KK, Alnæs D, Andreassen OA, Sønderby IE; ENIGMA-CNV Working Group.

January 2024

In vitro characterization of rare anti-αIIbβ3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation. Lee CSM, Huguenin Y, Pillois X, Moulieras M, Marcy E, Whittaker S, Chen VMY, Fiore M. Res Pract Thromb Haemost. 2023 Nov 4;8(1):102253. doi: 10.1016/j.rpth.2023.102253. eCollection 2024 Jan. PMID: 38268518 Free PMC article.

Res Pract Thromb Haemost. 2023 Nov 4;8(1):102253.

Lee CSM, Huguenin Y, Pillois X, Moulieras M, Marcy E, Whittaker S, Chen VMY, Fiore M.

January 2024

A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia.

ERJ Open Res. 2024 Jan 8;10(1):00115-2023.

Kos R, Goutaki M, Kobbernagel HE, Rubbo B, Shoemark A, Aliberti S, Altenburg J, Anagnostopoulou P, Athanazio RA, Beydon N, Dell SD, Emiralioglu N, Ferkol TW, Loebinger MR, Lorent N, Maître B, Marthin J, Morgan LC, Nielsen KG, Ringshausen FC, Shteinberg M, Tiddens HAWM, Maitland-Van der Zee AH, Chalmers JD, Lucas JSA, Haarman EG.

January 2024

Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort.

Genet Med. 2024 Jan 19:101076.

Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans L, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T.

February 2024

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

Lancet Infect Dis. 2024 Feb 9:S1473-3099(23)00731-4.

Chang CC, Harrison TS, Bicanic TA, Chayakulkeeree M, Sorrell TC, Warris A, Hagen F, Spec A, Oladele R, Govender NP, Chen SC, Mody CH, Groll AH, Chen YC, Lionakis MS, Alanio A, Castañeda E, Lizarazo J, Vidal JE, Takazono T, Hoenigl M, Alffenaar JW, Gangneux JP, Soman R, Zhu LP, Bonifaz A, Jarvis JN, Day JN, Klimko N, Salmanton-García J, Jouvion G, Meya DB, Lawrence D, Rahn S, Bongomin F, McMullan BJ, Sprute R, Nyazika TK, Beardsley J, Carlesse F, Heath CH, Ayanlowo OO, Mashedi OM, Queiroz-Telles Filho F, Hosseinipour MC, Patel AK, Temfack E, Singh N, Cornely OA, Boulware DR, Lortholary O, Pappas PG, Perfect JR.

February 2024

Association of the Genomic Profile of Medullary Thyroid Carcinoma with Tumor Characteristics and Clinical Outcomes in an International Multicenter Study.

Thyroid. 2024 Feb;34(2):167-176.

Xu B, Viswanathan K, Ahadi MS, Ahmadi S, Alzumaili B, Bani MA, Baudin E, Behrman DB, Capelletti M, Chau NG, Chiarucci F, Chou A, Clifton-Bligh R, Coluccelli S, de Biase D, De Leo A, Dogan S, Fagin JA, Fuchs TL, Glover AR, Hadoux J, Lacroix L, Lamartina L, Lubin DJ, Luxford C, Magliocca K, Maloberti T, Mohanty AS, Najdawi F, Nigam A, Papachristos AJ, Repaci A, Robinson B, Scoazec JY, Shi Q, Sidhu S, Solaroli E, Sywak M, Tuttle RM, Untch B, Barletta JA, Al Ghuzlan A, Gill AJ, Ghossein R, Tallini G, Ganly I.

February 2024

Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing.

Cancers (Basel). 2024 Feb 15;16(4):785.

Fielding D, Lakis V, Dalley AJ, Chittoory H, Newell F, Koufariotis LT, Patch AM, Kazakoff S, Bashirzadeh F, Son JH, Ryan K, Steinfort D, Williamson JP, Bint M, Pahoff C, Nguyen PT, Twaddell S, Arnold D, Grainge C, Pattison A, Fairbairn D, Gune S, Christie J, Holmes O, Leonard C, Wood S, Pearson JV, Lakhani SR, Waddell N, Simpson PT, Nones K.

March 2024

Long-term Outcomes following Resection of Adenocarcinoma Arising from Intraductal Papillary Mucinous Neoplasm (A‑IPMN) versus Pancreatic Ductal Adenocarcinoma (PDAC): A Propensity-score Matched Analysis.

Ann Surg. 2024 Mar 22.

Lucocq J, Halle-Smith J, Haugk B, Joseph N, Hawkyard J, Lye J, Parkinson D, White S, Mownah O, Zen Y, Menon K, Furukawa T, Inoue Y, Hirose Y, Sasahira N, Mittal A, Samra J, Sheen A, Feretis M, Balakrishnan A, Ceresa C, Davidson B, Pande R, Dasari BVM, Tanno L, Karavias D, Helliwell J, Young A, Marks K, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, van Laarhoven S, Nawara H, Doyle J, Bhogal R, Harrison E, Roalso M, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Bellotti R, Stättner S, Alsaoudi T, Bhardwaj N, Rajesh S, Jeffery F, Connor S, Cameron A, Jamieson N, Soreide K, Gill AJ, Roberts K, Pandanaboyana S.

March 2024

The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.

Cell Rep. 2024 Mar 26;43(3):113826

Zeng PYF, Prokopec SD, Lai SY, Pinto N, Chan-Seng-Yue MA, Clifton-Bligh R, Williams MD, Howlett CJ, Plantinga P, Cecchini MJ, Lam AK, Siddiqui I, Wang J, Sun RX, Watson JD, Korah R, Carling T, Agrawal N, Cipriani N, Ball D, Nelkin B, Rooper LM, Bishop JA, Garnis C, Berean K, Nicolson NG, Weinberger P, Henderson YC, Lalansingh CM, Tian M, Yamaguchi TN, Livingstone J, Salcedo A, Patel K, Vizeacoumar F, Datti A, Xi L, Nikiforov YE, Smallridge R, Copland JA, Marlow LA, Hyrcza MD, Delbridge L, Sidhu S, Sywak M, Robinson B, Fung K, Ghasemi F, Kwan K, MacNeil SD, Mendez A, Palma DA, Khan MI, Shaikh M, Ruicci KM, Wehrli B, Winquist E, Yoo J, Mymryk JS, Rocco JW, Wheeler D, Scherer S, Giordano TJ, Barrett JW, Faquin WC, Gill AJ, Clayman G, Boutros PC, Nichols AC.

March 2024

Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.

Nat Rev Endocrinol. 2024 Mar;20(3):168-184.

Taïeb D, Nölting S, Perrier ND, Fassnacht M, Carrasquillo JA, Grossman AB, Clifton-Bligh R, Wanna GB, Schwam ZG, Amar L, Bourdeau I, Casey RT, Crona J, Deal CL, Del Rivero J, Duh QY, Eisenhofer G, Fojo T, Ghayee HK, Gimenez-Roqueplo AP, Gill AJ, Hicks R, Imperiale A, Jha A, Kerstens MN, de Krijger RR, Lacroix A, Lazurova I, Lin FI, Lussey-Lepoutre C, Maher ER, Mete O, Naruse M, Nilubol N, Robledo M, Sebag F, Shah NS, Tanabe A, Thompson GB, Timmers HJLM, Widimsky J, Young WJ Jr, Meuter L, Lenders JWM, Pacak K.

April 2024

Adjuvant chemotherapy for adenocarcinoma arising from intraductal papillary mucinous neoplasia: multicentre ADENO-IPMN study.

Br J Surg. 2024 Apr 3;111(4):znae100.

Lucocq J, Hawkyard J, Haugk B, Mownah O, Menon K, Furukawa T, Inoue Y, Hirose Y, Sasahira N, Feretis M, Balakrishnan A, Ceresa C, Davidson B, Pande R, Dasari B, Tanno L, Karavias D, Helliwell J, Young A, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, Van Laarhoven S, Robertson F, Nawara H, Doyle J, Bhogal R, Harrison E, Roalso M, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Bellotti R, Stättner S, Alsaoudi T, Bhardwaj N, Rajesh S, Jeffery F, Connor S, Cameron A, Jamieson N, Sheen A, Mittal A, Samra J, Gill A, Roberts K, Søreide K, Pandanaboyana S.

March 2024

Hepatitis C Virus Antiviral Drug Resistance and Salvage Therapy Outcomes Across Australia.

Open Forum Infect Dis. 2024 Mar 18;11(4):ofae155.

Wang DS, Phu A, McKee K, Strasser SI, Sheils S, Weltman M, Sellar S, Davis JS, Young M, Braund A, Farrell GC, Blunn A, Harding D, Ralton L, Muller K, Davison SA, Shaw D, Wood M, Hajkowicz K, Skolen R, Davies J, Tate-Baker J, Doyle A, Tuma R, Hazeldine S, Lam W, Edmiston N, Zohrab K, Pratt W, Watson B, Zekry A, Stephens C, Clark PJ, Day M, Park G, Kim H, Wilson M, McGarity B, Menzies N, Russell D, Lam T, Boyd P, Kok J, George J, Douglas MW.

April 2024

De novo variants in the non-coding spliceosomal snRNA gene RNU4‑2 are a frequent cause of syndromic neurodevelopmental disorders.

medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438.

Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N.

April 2024

The Impact of Next-generation Sequencing on Interobserver Agreement and Diagnostic Accuracy of Desmoplastic Melanocytic Neoplasms.

Am J Surg Pathol. 2024 Apr 9.

Chen A, Sharma N, Patel P, Olivares S, Bahrami A, Barnhill RL, Blokx WAM, Bosenberg M, Busam KJ, de La Fouchardière A, Duncan LM, Elder DE, Ko JS, Landman G, Lazar AJ, Lezcano C, Lowe L, Maher N, Massi D, Messina J, Mihic-Probst D, Parker DC, Redpath M, Scolyer RA, Shea CR, Spatz A, Tron V, Xu X, Yeh I, Jung Yun S, Zembowicz A, Gerami P.

May 2024

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Genet Med. 2024 May;26(5):101076.

Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T.

May 2024

Novel prognostic nomogram for predicting recurrence-free survival in medullary thyroid carcinoma.

Histopathology. 2024 May;84(6):947-959.

Aksoy YA, Xu B, Viswanathan K, Ahadi MS, Al Ghuzlan A, Alzumaili B, Bani MA, Barletta JA, Chau N, Chou A, Clarkson A, Clifton-Bligh RJ, De Leo A, Dogan S, Ganly I, Ghossein R, Gild ML, Glover AR, Hadoux J, Lamartina L, Lubin DJ, Magliocca K, Najdawi F, Nigam A, Papachristos A, Repaci A, Robinson BG, Sheen A, Shi Q, Sidhu SB, Sioson L, Solaroli E, Sywak MS, Tallini G, Tsang V, Turchini J, Untch BR, Gill AJ, Fuchs TL.

June 2024

Fusarium species,Scedosporium species, and Lomentospora prolificans: A systematic review to inform the World Health Organization priority list of fungal pathogens.

Med Mycol. 2024 Jun 27;62(6):myad128.

Marinelli T, Kim HY, Halliday CL, Garnham K, Bupha-Intr O, Dao A, Morris AJ, Alastruey-Izquierdo A, Colombo A, Rickerts V, Perfect J, Denning DW, Nucci M, Hamers RL, Cassini A, Oladele R, Sorrell TC, Ramon-Pardo P, Fusire T, Chiller TM, Wahyuningsih R, Forastiero A, Al-Nuseirat A, Beyer P, Gigante V, Beardsley J, Sati H, Alffenaar JW, Morrissey CO.

June 2024

Predictors of long-term survival after resection of adenocarcinoma arising from intraductal papillary mucinous neoplasm and derivation of a prognostic model: An international multicenter study (ADENO-IPMN study).

Surgery. 2024 Jun 24:S0039-6060(24)00307-6.

Lucocq J, Joseph N, Hawkyard J, Haugk B, White S, Lye J, Parkinson D, Mownah O, Menon K, Furukawa T, Hirose Y, Sasahira N, Inoue Y, Mittal A, Samra J, Sheen A, Feretis M, Balakrishnan A, Ceresa C, Davidson B, Pande R, Dasari B, Roberts K, Tanno L, Karavias D, Helliwell J, Young A, Marks K, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, van Laarhoven S, Nawara H, Doyle J, Bhogal R, Harrison E, Roalso M, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Stättner S, Bellotti R, Alsaoudi T, Bhardwaj N, Rajesh S, Jeffery F, Connor S, Cameron A, Jamieson N, Gill A, Soreide K, Pandanaboyana S.

June 2024

Precision-guided treatment in high-risk pediatric cancers.

Nat Med. 2024 Jun 6.

Lau LMS, Khuong-Quang DA, Mayoh C, Wong M, Barahona P, Ajuyah P, Senapati A, Nagabushan S, Sherstyuk A, Altekoester AK, Fuentes-Bolanos NA, Yeung V, Sullivan A, Omer N, Diamond Y, Jessop S, Battaglia L, Zhukova N, Cui L, Lin A, Gifford AJ, Fleuren EDG, Dalla-Pozza L, Moore AS, Khaw SL, Eisenstat DD, Gottardo NG, Wood PJ, Tapp H, Alvaro F, McCowage G, Nicholls W, Hansford JR, Manoharan N, Kotecha RS, Mateos MK, Lock RB, Tyrrell V, Haber M, Trahair TN, Cowley MJ, Ekert PG, Marshall GM, Ziegler DS.

June 2024

Neoadjuvant Nivolumab and Ipilimumab in Resectable Stage III Melanoma.

N Engl J Med. 2024 Jun 2.

Blank CU, Lucas MW, Scolyer RA, van de Wiel BA, Menzies AM, Lopez-Yurda M, Hoeijmakers LL, Saw RPM, Lijnsvelt JM, Maher NG, Pulleman SM, Gonzalez M, Torres Acosta A, van Houdt WJ, Lo SN, Kuijpers AMJ, Spillane A, Klop WMC, Pennington TE, Zuur CL, Shannon KF, Seinstra BA, Rawson RV, Haanen JBAG, Ch'ng S, Naipal KAT, Stretch J, van Thienen JV, Rtshiladze MA, Wilgenhof S, Kapoor R, Meerveld-Eggink A, Grijpink-Ongering LG, van Akkooi ACJ, Reijers ILM, Gyorki DE, Grünhagen DJ, Speetjens FM, Vliek SB, Placzke J, Spain L, Stassen RC, Amini-Adle M, Lebbé C, Faries MB, Robert C, Ascierto PA, van Rijn R, van den Berkmortel FWPJ, Piersma D, van der Westhuizen A, Vreugdenhil G, Aarts MJB, Stevense-den Boer MAM, Atkinson V, Khattak M, Andrews MC, van den Eertwegh AJM, Boers-Sonderen MJ, Hospers GAP, Carlino MS, de Groot JB, Kapiteijn E, Suijkerbuijk KPM, Rutkowski P, Sandhu S, van der Veldt AAM, Long GV.

June 2024

Dominant negative OTULIN-related autoinflammatory syndrome.

J Exp Med. 2024 Jun 3;221(6):e20222171.

Davidson S, Shibata Y, Collard S, Zheng H, Kong K, Sun JM, Laohamonthonkul P, Cerra A, Kratina T; CIRCA; AADRY; Li MWY, Russell C, van Beek A, Kirk EP, Walsh R, Alqanatish J, Almojali A, Alsuwairi W, Alrasheed A, Lalaoui N, Gray PE, Komander D, Masters SL.

June 2024

The Impact of Next-generation Sequencing on Interobserver Agreement and Diagnostic Accuracy of Desmoplastic Melanocytic Neoplasms.

Am J Surg Pathol. 2024 Jun 1;48(6):708-718.

Chen A, Sharma N, Patel P, Olivares S, Bahrami A, Barnhill RL, Blokx WAM, Bosenberg M, Busam KJ, de La Fouchardière A, Duncan LM, Elder DE, Ko JS, Landman G, Lazar AJ, Lezcano C, Lowe L, Maher N, Massi D, Messina J, Mihic-Probst D, Parker DC, Redpath M, Scolyer RA, Shea CR, Spatz A, Tron V, Xu X, Yeh I, Jung Yun S, Zembowicz A, Gerami P.

July 2024

Invasive intraductal oncocytic papillary neoplasms (IOPN) and adenocarcimoma arising from intraductal papillary mucinous neoplasms (A‑IPMN) of the pancreas: comparative analysis of clinicopathological features, patterns of recurrence and survival: a multicentre study.

HPB (Oxford). 2024 Jul 20:S1365-182X(24)02222-6.

Lucocq J, Haugk B, Joseph N, Hawkyard J, White S, Mownah O, Menon K, Furukawa T, Inoue Y, Hirose Y, Sasahira N, Mittal A, Samra J, Sheen A, Feretis M, Balakrishnan A, Ceresa C, Davidson B, Pande R, Dasari BVM, Tanno L, Karavias D, Helliwell J, Young A, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, van Laarhoven S, Nawara H, Doyle J, Bhogal R, Harrison E, Roalso M, Zaharia C, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Bellotti R, Stättner S, Alsaoudi T, Bhardwaj N, Jeffery F, Connor S, Cameron A, Jamieson N, Roberts K, Soreide K, Gill AJ, Pandanaboyana S.

July 2024

The clinical relevance of MOG antibody testing in cerebrospinal fluid.

Ann Clin Transl Neurol. 2024 Jul 28.

Reynolds M, Tan I, Nguyen K, Merheb V, Lee FXZ, Trewin BP, Lerch M, Shah S, Wolfe N, Buzzard K, Lechner-Scott J, Fabis-Pedrini M, Fok A, John N, Kneebone C, Yiannikas C, Brown DA, Kermode AG, Reddel S, Dale RC, Brilot F, Ramanathan S; Australasian MOGAD Study Group.

July 2024

Improving the assessment of risk factors relevant to potential carcinogenicity of gene therapies: a consensus paper.

Hum Gene Ther. 2024 Jul 25.

Klapwijk JC, Del Rio Espinola A, Libertini S, Collin P, Fellows MD, Jobling S, Lynch AM, Martus H, Vickers C, Zeller A, Biasco L, Brugman MH, Bushmann FD, Cathomen T, Ertl HCJ, Gabriel R, Gao G, Jadlowsky JK, Kimber I, Lanz TA, Levine BL, Micklethwaite KP, Onodera M, Pizzurro DM, Reed S, Rothe M, Sabatino D, Salk JJ, Schambach A, Themis M, Yuan J.

July 2024

A foundation model for clinical-grade computational pathology and rare cancers detection.

Nat Med. 2024 Jul 22.

Vorontsov E, Bozkurt A, Casson A, Shaikovski G, Zelechowski M, Severson K, Zimmermann E, Hall J, Tenenholtz N, Fusi N, Yang E, Mathieu P, van Eck A, Lee D, Viret J, Robert E, Wang YK, Kunz JD, Lee MCH, Bernhard JH, Godrich RA, Oakley G, Millar E, Hanna M, Wen H, Retamero JA, Moye WA, Yousfi R, Kanan C, Klimstra DS, Rothrock B, Liu S, Fuchs TJ.

July 2024

Environmental Determinants of Islet Autoimmunity (ENDIA) longitudinal prospective pregnancy to childhood cohort study of Australian children at risk of type 1 diabetes: parental demographics and birth information.

BMJ Open Diabetes Res Care. 2024 Jul 16;12(4):e004130.

Thomson RL, Oakey H, Haynes A, Craig ME, Harrison LC, Wentworth JM, Anderson A, Ashwood P, Barry S, Brittain B, Brown JD, Colman PG, Davis EA, Hamilton-Williams E, Huynh D, Huynh T, Kim KW, McGorm KJ, Morahan G, Rawlinson W, Sinnott RO, Soldatos G, Tye-Din JA, Vuillermin PJ, Penno MAS, Couper JJ.

July 2024

ASO Visual Abstract: Precursor Epithelial Subtypes of Adenocarcinoma Arising from Intraductal Papillary Mucinous Neoplasms (A‑IPMN)-Clinicopathological Features, Recurrence and Response to Adjuvant Chemotherapy.

Ann Surg Oncol. 2024 Jul 15.

Lucocq J, Haugk B, Parkinson D, Darne A, Joseph N, Hawkyard J, White S, Mownah O, Menon K, Furukawa T, Inoue Y, Hirose Y, Sasahira N, Mittal A, Samra J, Sheen A, Feretis M, Balakrishnan A, Ceresa C, Davidson B, Pande R, Dasari BVM, Tanno L, Karavias D, Helliwell J, Young A, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, van Laarhoven S, Nawara H, Doyle J, Bhogal R, Harrison E, Roalso M, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Bellotti R, Stättner S, Alsaoudi T, Bhardwaj N, Jeffery F, Connor S, Cameron A, Jamieson N, Roberts K, Soreide K, Gill AJ, Pandanaboyana S.

July 2024

The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis.

Nat Commun. 2024 Jul 11;15(1):5585.

Murray JE, Valli E, Milazzo G, Mayoh C, Gifford AJ, Fletcher JI, Xue C, Jayatilleke N, Salehzadeh F, Gamble LD, Rouaen JRC, Carter DR, Forgham H, Sekyere EO, Keating J, Eden G, Allan S, Alfred S, Kusuma FK, Clark A, Webber H, Russell AJ, de Weck A, Kile BT, Santulli M, De Rosa P, Fleuren EDG, Gao W, Wilkinson-White L, Low JKK, Mackay JP, Marshall GM, Hilton DJ, Giorgi FM, Koster J, Perini G, Haber M, Norris MD.

July 2024

De novo variants in the RNU4‑2 snRNA cause a frequent neurodevelopmental syndrome.

Nature. 2024 Jul 11.

Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N.

July 2024

Precursor Epithelial Subtypes of Adenocarcinoma Arising from Intraductal Papillary Mucinous Neoplasms (A‑IPMN): Clinicopathological Features, Recurrence and Response to Adjuvant Chemotherapy.

Ann Surg Oncol. 2024 Jul 3.

Lucocq J, Haugk B, Parkinson D, Darne A, Joseph N, Hawkyard J, White S, Mownah O, Menon K, Furukawa T, Inoue Y, Hirose Y, Sasahira N, Mittal A, Samra J, Sheen A, Feretis M, Balakrishnan A, Ceresa C, Davidson B, Pande R, Dasari BVM, Tanno L, Karavias D, Helliwell J, Young A, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, van Laarhoven S, Nawara H, Doyle J, Bhogal R, Harrison E, Roalso M, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Bellotti R, Stättner S, Alsaoudi T, Bhardwaj N, Jeffery F, Connor S, Cameron A, Jamieson N, Roberts K, Soreide K, Gill AJ, Pandanaboyana S.

July 2024

Temporally resolved proteomics identifies nidogen‑2 as a cotarget in pancreatic cancer that modulates fibrosis and therapy response.

Sci Adv. 2024 Jul 5;10(27):eadl1197.

Pereira BA, Ritchie S, Chambers CR, Gordon KA, Magenau A, Murphy KJ, Nobis M, Tyma VM, Liew YF, Lucas MC, Naeini MM, Barkauskas DS, Chacon-Fajardo D, Howell AE, Parker AL, Warren SC, Reed DA, Lee V, Metcalf XL, Lee YK, O'Regan LP, Zhu J, Trpceski M, Fontaine ARM, Stoehr J, Rouet R, Lin X, Chitty JL, Porazinski S, Wu SZ, Filipe EC, Cadell AL, Holliday H, Yang J, Papanicolaou M, Lyons RJ, Zaratzian A, Tayao M, Da Silva A, Vennin C, Yin J, Dew AB, McMillan PJ, Goldstein LD, Deveson IW, Croucher DR, Samuel MS, Sim HW, Batten M, Chantrill L, Grimmond SM, Gill AJ, Samra J, Jeffry Evans TR, Sasaki T, Phan TG, Swarbrick A, Sansom OJ, Morton JP; Australian Pancreatic Cancer Matrix Atlas (APMA); Australian Pancreatic Cancer Genome Initiative (APGI); Pajic M, Parker BL, Herrmann D, Cox TR, Timpson P.

July 2024

Precision-guided treatment in high-risk pediatric cancers.

Nat Med. 2024 Jul;30(7):1913-1922.

Lau LMS, Khuong-Quang DA, Mayoh C, Wong M, Barahona P, Ajuyah P, Senapati A, Nagabushan S, Sherstyuk A, Altekoester AK, Fuentes-Bolanos NA, Yeung V, Sullivan A, Omer N, Diamond Y, Jessop S, Battaglia L, Zhukova N, Cui L, Lin A, Gifford AJ, Fleuren EDG, Dalla-Pozza L, Moore AS, Khaw SL, Eisenstat DD, Gottardo NG, Wood PJ, Tapp H, Alvaro F, McCowage G, Nicholls W, Hansford JR, Manoharan N, Kotecha RS, Mateos MK, Lock RB, Tyrrell V, Haber M, Trahair TN, Cowley MJ, Ekert PG, Marshall GM, Ziegler DS.

July 2024

Risk of Recurrence After Surgical Resection for Adenocarcinoma Arising From Intraductal Papillary Mucinous Neoplasia (IPMN) With Patterns of Distribution and Treatment: An International, Multicenter, Observational Study (ADENO-IPMN Study).

Ann Surg. 2024 Jul 1;280(1):126-135.

Lucocq J, Hawkyard J, Robertson FP, Haugk B, Lye J, Parkinson D, White S, Mownah O, Zen Y, Menon K, Furukawa T, Inoue Y, Hirose Y, Sasahira N, Feretis M, Balakrishnan A, Zelga P, Ceresa C, Davidson B, Pande R, Dasari B, Tanno L, Karavias D, Helliwell J, Young A, Nunes Q, Urbonas T, Silva M, Gordon-Weeks A, Barrie J, Gomez D, van Laarhoven S, Doyle J, Bhogal R, Harrison E, Roalso M, Ciprani D, Aroori S, Ratnayake B, Koea J, Capurso G, Bellotti R, Stättner S, Alsaoudi T, Bhardwaj N, Jeffery F, Connor S, Cameron A, Jamieson N, Sheen A, Mittal A, Samra J, Gill A, Roberts K, Soreide K, Pandanaboyana S.

August 2024

Finding individualised treatment in obese needing enoxaparin (FIT ONE): a multicentre study of therapeutic enoxaparin and the role of anti-factor Xa monitoring.

J Thromb Thrombolysis. 2024 Aug 27.

Appay M, Lai J, Hay J, Calvisi C, Wills G, Kharadi S, Nanayakkara S, Ryu JS, Alameddine R, Jupp S, Lin M, Nguyen J, Nguyen T, Harrison N, Gad F, Kagaya S, Nguyen L, Piyush S, Shion V, Pandya A, Emin M, Lim ES, Rahman U, Hayat F, Gajaweera C, Sheriff N, Patanwala AE, Pasalic L, Alffenaar JW.

August 2024

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Nat Commun. 2024 Aug 6;15(1):6524.

LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC.

August 2024

Improving the Assessment of Risk Factors Relevant to Potential Carcinogenicity of Gene Therapies: A Consensus Article.

Hum Gene Ther. 2024 Aug;35(15-16):527-542.

Klapwijk JC, Del Rio Espinola A, Libertini S, Collin P, Fellows MD, Jobling S, Lynch AM, Martus H, Vickers C, Zeller A, Biasco L, Brugman MH, Bushmann FD, Cathomen T, Ertl HCJ, Gabriel R, Gao G, Jadlowsky JK, Kimber I, Lanz TA, Levine BL, Micklethwaite KP, Onodera M, Pizzurro DM, Reed S, Rothe M, Sabatino DE, Salk JJ, Schambach A, Themis M, Yuan J.

August 2024

De novo variants in the RNU4‑2 snRNA cause a frequent neurodevelopmental syndrome.

Nature. 2024 Aug;632(8026):832-840.

Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N.

August 2024

Antimicrobial therapeutic drug monitoring in critically ill adult patients – An international perspective on access, utilisation, and barriers.

Int J Antimicrob Agents. 2024 Aug;64(2):107192.

Williams P, Cotta MO, Tabah A, Sandaradura I, Kanji S, Scheetz MH, Imani S, Elhadi M, Pardos SL, Schellack N, Sanches C, Timsit JF, Xie J, Farkas A, Wilks K, Roberts JA; National Coordinators; European Society of Intensive Care Medicine (ESICM) and the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Study Group for Infections in Critically Ill Patients [ESGCIP].

August 2024

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

Lancet Infect Dis. 2024 Aug;24(8):e495-e512.

Chang CC, Harrison TS, Bicanic TA, Chayakulkeeree M, Sorrell TC, Warris A, Hagen F, Spec A, Oladele R, Govender NP, Chen SC, Mody CH, Groll AH, Chen YC, Lionakis MS, Alanio A, Castañeda E, Lizarazo J, Vidal JE, Takazono T, Hoenigl M, Alffenaar JW, Gangneux JP, Soman R, Zhu LP, Bonifaz A, Jarvis JN, Day JN, Klimko N, Salmanton-García J, Jouvion G, Meya DB, Lawrence D, Rahn S, Bongomin F, McMullan BJ, Sprute R, Nyazika TK, Beardsley J, Carlesse F, Heath CH, Ayanlowo OO, Mashedi OM, Queiroz-Telles Filho F, Hosseinipour MC, Patel AK, Temfack E, Singh N, Cornely OA, Boulware DR, Lortholary O, Pappas PG, Perfect JR.

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NSW Health Pathology acknowledges the Traditional Custodians of the land across NSW whose cultures and customs have nurtured and continue to nurture this land. We would like to pay our respects to the Elders past, present and emerging, for they hold the memories, the traditions, the culture and hopes of Aboriginal and Torres Strait Islander peoples across the state.

Aboriginal Workforce Development Closing the Gap

NSW Health Pathology acknowledges the Traditional Custodians of the land across NSW whose cultures and customs have nurtured and continue to nurture this land. We would like to pay our respects to the Elders past, present and emerging, for they hold the memories, the traditions, the culture and hopes of Aboriginal and Torres Strait Islander peoples across the state.

Aboriginal Workforce Development Closing the Gap
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