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Items: 1 to 50 of 249

1.

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.

Zammit NW, Siggs OM, Gray PE, Horikawa K, Langley DB, Walters SN, Daley SR, Loetsch C, Warren J, Yap JY, Cultrone D, Russell A, Malle EK, Villanueva JE, Cowley MJ, Gayevskiy V, Dinger ME, Brink R, Zahra D, Chaudhri G, Karupiah G, Whittle B, Roots C, Bertram E, Yamada M, Jeelall Y, Enders A, Clifton BE, Mabbitt PD, Jackson CJ, Watson SR, Jenne CN, Lanier LL, Wiltshire T, Spitzer MH, Nolan GP, Schmitz F, Aderem A, Porebski BT, Buckle AM, Abbott DW, Ziegler JB, Craig ME, Benitez-Aguirre P, Teo J, Tangye SG, King C, Wong M, Cox MP, Phung W, Tang J, Sandoval W, Wertz IE, Christ D, Goodnow CC, Grey ST.

Nat Immunol. 2019 Oct;20(10):1299-1310. doi: 10.1038/s41590-019-0492-0. Epub 2019 Sep 18.

PMID:
31534238
2.

Flexible Coordination of N,P-Donor Ligands in Aluminum Dimethyl and Dihydride Complexes.

Falconer RL, Nichol GS, Cowley MJ.

Inorg Chem. 2019 Sep 3;58(17):11439-11448. doi: 10.1021/acs.inorgchem.9b01061. Epub 2019 Aug 14.

3.

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.

Rius R, Cowley MJ, Riley L, Puttick C, Thorburn DR, Christodoulou J.

Genet Med. 2019 Jun 7. doi: 10.1038/s41436-019-0568-0. [Epub ahead of print]

PMID:
31171843
4.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T.

J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25.

PMID:
31129566
5.

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Kim A, Kumar KR, Davis RL, Mallawaarachchi AC, Gayevskiy V, Minoche AE, Walls Z, Kim HJ, Jang M, Cowley MJ, Choi JH, Shin C, Sue CM, Jeon B.

Cerebellum. 2019 Aug;18(4):781-790. doi: 10.1007/s12311-019-01038-0.

PMID:
31104286
6.

Next-Generation Sequencing and Emerging Technologies.

Kumar KR, Cowley MJ, Davis RL.

Semin Thromb Hemost. 2019 Oct;45(7):661-673. doi: 10.1055/s-0039-1688446. Epub 2019 May 16.

PMID:
31096307
7.

Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.

McCabe MJ, Pinese M, Chan CL, Sheriff N, Thompson TJ, Grady J, Wong M, Gauthier MA, Puttick C, Gayevskiy V, Hajdu E, Wong SQ, Barrett W, Earls P, Lukeis R, Cheng YY, Lin RCY, Thomas DM, Watkins DN, Dinger ME, McCormack AI, Cowley MJ.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003764. doi: 10.1101/mcs.a003764. Print 2019 Apr.

8.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.

Am J Hum Genet. 2019 Apr 4;104(4):778. doi: 10.1016/j.ajhg.2019.03.016. Epub 2019 Mar 28. No abstract available.

9.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.

Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 Apr 4;104(4):778.

10.

Mutational Patterns in Metastatic Cutaneous Squamous Cell Carcinoma.

Mueller SA, Gauthier MA, Ashford B, Gupta R, Gayevskiy V, Ch'ng S, Palme CE, Shannon K, Clark JR, Ranson M, Cowley MJ.

J Invest Dermatol. 2019 Jul;139(7):1449-1458.e1. doi: 10.1016/j.jid.2019.01.008. Epub 2019 Jan 23.

PMID:
30684551
11.

Precision Oncology in Surgery: Patient Selection for Operable Pancreatic Cancer.

Dreyer SB, Pinese M, Jamieson NB, Scarlett CJ, Colvin EK, Pajic M, Johns AL, Humphris JL, Wu J, Cowley MJ, Chou A, Nagrial AM, Chantrill L, Chin VT, Jones MD, Moran-Jones K, Carter CR, Dickson EJ, Samra JS, Merrett ND, Gill AJ, Kench JG, Duthie F, Miller DK, Cooke S, Aust D, Knösel T, Rümmele P, Grützmann R, Pilarsky C, Nguyen NQ, Musgrove EA, Bailey PJ, McKay CJ, Biankin AV, Chang DK; Australian Pancreatic Cancer Genome Initiative; Glasgow Precision Oncology Laboratory.

Ann Surg. 2018 Nov 30. doi: 10.1097/SLA.0000000000003143. [Epub ahead of print]

PMID:
30570546
12.

Seave: a comprehensive web platform for storing and interrogating human genomic variation.

Gayevskiy V, Roscioli T, Dinger ME, Cowley MJ.

Bioinformatics. 2019 Jan 1;35(1):122-125. doi: 10.1093/bioinformatics/bty540.

13.

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Rius R, Riley LG, Guo Y, Menezes M, Compton AG, Van Bergen NJ, Gayevskiy V, Cowley MJ, Cummings BB, Adams L, Ellaway C, Thorburn DR, Hakonarson H, Christodoulou J.

Mol Genet Metab. 2019 Jan;126(1):77-82. doi: 10.1016/j.ymgme.2018.12.002. Epub 2018 Dec 11.

PMID:
30558828
14.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.

Cowley MJ, Liu YC, Oliver KL, Carvill G, Myers CT, Gayevskiy V, Delatycki M, Vlaskamp DRM, Zhu Y, Mefford H, Buckley MF, Bahlo M, Scheffer IE, Dinger ME, Roscioli T.

Hum Mutat. 2019 Apr;40(4):374-379. doi: 10.1002/humu.23699. Epub 2019 Jan 31.

15.

Intercepting the Disilene-Silylsilylene Equilibrium.

Stanford MW, Schweizer JI, Menche M, Nichol GS, Holthausen MC, Cowley MJ.

Angew Chem Int Ed Engl. 2019 Jan 28;58(5):1329-1333. doi: 10.1002/anie.201810056. Epub 2019 Jan 3.

PMID:
30461143
16.

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Mallawaarachchi AC, Furlong TJ, Shine J, Harris PC, Cowley MJ.

Genet Med. 2019 Jun;21(6):1425-1434. doi: 10.1038/s41436-018-0324-x. Epub 2018 Oct 29.

17.

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL, Gayevskiy V, Steinfort DP, De Massy MR, Gonzalez-Rajal A, Marini KD, Stone E, Chin V, Havryk A, Plit M, Irving LB, Jennings BR, McCloy RA, Jayasekara WSN, Alamgeer M, Boolell V, Field A, Russell PA, Kumar B, Gough DJ, Szczepny A, Ganju V, Rossello FJ, Cain JE, Papenfuss AT, Asselin-Labat ML, Cowley MJ, Watkins DN.

Oncogene. 2019 Mar;38(10):1661-1675. doi: 10.1038/s41388-018-0536-1. Epub 2018 Oct 22.

18.

Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer.

Tsoli M, Wadham C, Pinese M, Failes T, Joshi S, Mould E, Yin JX, Gayevskiy V, Kumar A, Kaplan W, Ekert PG, Saletta F, Franshaw L, Liu J, Gifford A, Weber MA, Rodriguez M, Cohn RJ, Arndt G, Tyrrell V, Haber M, Trahair T, Marshall GM, McDonald K, Cowley MJ, Ziegler DS.

Cancer Biol Ther. 2018;19(12):1078-1087. doi: 10.1080/15384047.2018.1491498. Epub 2018 Oct 9.

19.

Response to Brodehl et al.

Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D.

Genet Med. 2019 May;21(5):1248-1249. doi: 10.1038/s41436-018-0292-1. Epub 2018 Sep 28. No abstract available.

PMID:
30262924
20.

Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma.

Ziegler DS, Wong M, Mayoh C, Kumar A, Tsoli M, Mould E, Tyrrell V, Khuong-Quang DA, Pinese M, Gayevskiy V, Cohn RJ, Lau LMS, Reynolds M, Cox MC, Gifford A, Rodriguez M, Cowley MJ, Ekert PG, Marshall GM, Haber M.

Br J Cancer. 2018 Sep;119(6):693-696. doi: 10.1038/s41416-018-0251-2. Epub 2018 Sep 17.

21.

Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma.

Allanson BM, Weber MA, Jackett LA, Chan C, Lau L, Ziegler DS, Warby M, Mayoh C, Cowley MJ, Tucker KM, Long GV, Maher A, Anazodo A, Scolyer RA.

Pathology. 2018 Oct;50(6):648-653. doi: 10.1016/j.pathol.2018.07.002. Epub 2018 Aug 31.

PMID:
30177220
22.

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms.

Kumar KR, Wali G, Davis RL, Mallawaarachchi AC, Palmer EE, Gayevskiy V, Minoche AE, Veivers D, Dinger ME, Mackay-Sim A, Cowley MJ, Sue CM.

Mol Genet Metab Rep. 2018 Jul 20;16:46-51. doi: 10.1016/j.ymgmr.2018.07.003. eCollection 2018 Sep.

23.

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Kang C, Liang C, Ahmad KE, Gu Y, Siow SF, Colebatch JG, Whyte S, Ng K, Cremer PD, Corbett AJ, Davis RL, Roscioli T, Cowley MJ, Park JS, Sue CM, Kumar KR.

Cerebellum. 2019 Feb;18(1):137-146. doi: 10.1007/s12311-018-0969-7.

PMID:
30078120
24.

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

Bagnall RD, Ingles J, Dinger ME, Cowley MJ, Ross SB, Minoche AE, Lal S, Turner C, Colley A, Rajagopalan S, Berman Y, Ronan A, Fatkin D, Semsarian C.

J Am Coll Cardiol. 2018 Jul 24;72(4):419-429. doi: 10.1016/j.jacc.2018.04.078.

25.

Phenylene-bridged cross-conjugated 1,2,3-trisilacyclopentadienes.

Zhao H, Klemmer L, Cowley MJ, Majumdar M, Huch V, Zimmer M, Scheschkewitz D.

Chem Commun (Camb). 2018 Jul 24;54(60):8399-8402. doi: 10.1039/c8cc03297a.

PMID:
29998230
26.

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D.

Genet Med. 2019 Mar;21(3):650-662. doi: 10.1038/s41436-018-0084-7. Epub 2018 Jul 2.

PMID:
29961767
27.

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Kirk EP, Barlow-Stewart K, Selvanathan A, Josephi-Taylor S, Worgan L, Rajagopalan S, Cowley MJ, Gayevskiy V, Bittles A, Burnett L, Elakis G, Lo W, Buckley M, Colley A, Roscioli T.

Genet Med. 2019 Mar;21(3):608-612. doi: 10.1038/s41436-018-0082-9. Epub 2018 Jul 2.

PMID:
29961766
28.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T.

Genet Med. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. Epub 2018 Mar 29.

PMID:
29595814
29.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

30.

Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance.

Fazakerley DJ, Chaudhuri R, Yang P, Maghzal GJ, Thomas KC, Krycer JR, Humphrey SJ, Parker BL, Fisher-Wellman KH, Meoli CC, Hoffman NJ, Diskin C, Burchfield JG, Cowley MJ, Kaplan W, Modrusan Z, Kolumam G, Yang JY, Chen DL, Samocha-Bonet D, Greenfield JR, Hoehn KL, Stocker R, James DE.

Elife. 2018 Feb 6;7. pii: e32111. doi: 10.7554/eLife.32111.

31.

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK.

Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.

32.

Aluminium-mediated carbon-carbon coupling of an isonitrile.

Urwin SJ, Nichol GS, Cowley MJ.

Chem Commun (Camb). 2018 Jan 4;54(4):378-380. doi: 10.1039/c7cc08415c.

PMID:
29242890
33.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
34.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J.

Am J Hum Genet. 2017 Dec 7;101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30.

35.

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J.

JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21.

36.

Preparation and Characterization of P2 BCh Ring Systems (Ch=S, Se) and Their Reactivity with N-Heterocyclic Carbenes.

Graham CME, Millet CRP, Price AN, Valjus J, Cowley MJ, Tuononen HM, Ragogna PJ.

Chemistry. 2018 Jan 12;24(3):672-680. doi: 10.1002/chem.201704337. Epub 2017 Dec 12.

PMID:
29119625
37.

Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

Khoo TK, Yu B, Smith JA, Clarke AJ, Luk PP, Selinger CI, Mahon KL, Kraitsek S, Palme C, Boyer MJ, Dinger ME, Cowley MJ, O'Toole SA, Clark JR, Gupta R.

Oncotarget. 2017 May 25;8(44):75893-75903. doi: 10.18632/oncotarget.18173. eCollection 2017 Sep 29.

38.

Tailored first-line and second-line CDK4-targeting treatment combinations in mouse models of pancreatic cancer.

Chou A, Froio D, Nagrial AM, Parkin A, Murphy KJ, Chin VT, Wohl D, Steinmann A, Stark R, Drury A, Walters SN, Vennin C, Burgess A, Pinese M, Chantrill LA, Cowley MJ, Molloy TJ; Australian Pancreatic Cancer Genome Initiative (APGI), Waddell N, Johns A, Grimmond SM, Chang DK, Biankin AV, Sansom OJ, Morton JP, Grey ST, Cox TR, Turchini J, Samra J, Clarke SJ, Timpson P, Gill AJ, Pajic M.

Gut. 2018 Dec;67(12):2142-2155. doi: 10.1136/gutjnl-2017-315144. Epub 2017 Oct 28.

39.

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Gururaj S, Palmer EE, Sheehan GD, Kandula T, Macintosh R, Ying K, Morris P, Tao J, Dias KR, Zhu Y, Dinger ME, Cowley MJ, Kirk EP, Roscioli T, Sachdev R, Duffey ME, Bye A, Bhattacharjee A.

Cell Rep. 2017 Oct 24;21(4):926-933. doi: 10.1016/j.celrep.2017.09.088.

40.

Phosphaborenes: Accessible Reagents for the Synthesis of C-C/P-B Isosteres.

Price AN, Nichol GS, Cowley MJ.

Angew Chem Int Ed Engl. 2017 Aug 7;56(33):9953-9957. doi: 10.1002/anie.201705050. Epub 2017 Jul 19.

PMID:
28643472
41.

Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma.

Warton K, Yuwono NL, Cowley MJ, McCabe MJ, So A, Ford CE.

Mol Diagn Ther. 2017 Oct;21(5):563-570. doi: 10.1007/s40291-017-0284-x.

PMID:
28631163
42.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J.

J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13.

PMID:
28409271
43.

Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression.

Zeraati M, Moye AL, Wong JWH, Perera D, Cowley MJ, Christ DU, Bryan TM, Dinger ME.

Sci Rep. 2017 Apr 6;7(1):708. doi: 10.1038/s41598-017-00739-y.

44.

SerpinB2 regulates stromal remodelling and local invasion in pancreatic cancer.

Harris NLE, Vennin C, Conway JRW, Vine KL, Pinese M, Cowley MJ, Shearer RF, Lucas MC, Herrmann D, Allam AH, Pajic M, Morton JP; Australian Pancreatic Cancer Genome Initiative, Biankin AV, Ranson M, Timpson P, Saunders DN.

Oncogene. 2017 Jul 27;36(30):4288-4298. doi: 10.1038/onc.2017.63. Epub 2017 Mar 27.

45.

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.

Eur J Hum Genet. 2017 Jun;25(6):763-767. doi: 10.1038/ejhg.2017.29. Epub 2017 Mar 15.

46.

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

De Sousa SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI.

Eur J Endocrinol. 2017 May;176(5):635-644. doi: 10.1530/EJE-16-0944. Epub 2017 Feb 20.

PMID:
28220018
47.

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J.

J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19.

PMID:
27995398
48.

Aluminum Hydride Catalyzed Hydroboration of Alkynes.

Bismuto A, Thomas SP, Cowley MJ.

Angew Chem Int Ed Engl. 2016 Dec 5;55(49):15356-15359. doi: 10.1002/anie.201609690. Epub 2016 Nov 11.

PMID:
27860199
49.

Hypermutation In Pancreatic Cancer.

Humphris JL, Patch AM, Nones K, Bailey PJ, Johns AL, McKay S, Chang DK, Miller DK, Pajic M, Kassahn KS, Quinn MC, Bruxner TJ, Christ AN, Harliwong I, Idrisoglu S, Manning S, Nourse C, Nourbakhsh E, Stone A, Wilson PJ, Anderson M, Fink JL, Holmes O, Kazakoff S, Leonard C, Newell F, Waddell N, Wood S, Mead RS, Xu Q, Wu J, Pinese M, Cowley MJ, Jones MD, Nagrial AM, Chin VT, Chantrill LA, Mawson A, Chou A, Scarlett CJ, Pinho AV, Rooman I, Giry-Laterriere M, Samra JS, Kench JG, Merrett ND, Toon CW, Epari K, Nguyen NQ, Barbour A, Zeps N, Jamieson NB, McKay CJ, Carter CR, Dickson EJ, Graham JS, Duthie F, Oien K, Hair J, Morton JP, Sansom OJ, Grützmann R, Hruban RH, Maitra A, Iacobuzio-Donahue CA, Schulick RD, Wolfgang CL, Morgan RA, Lawlor RT, Rusev B, Corbo V, Salvia R, Cataldo I, Tortora G, Tempero MA; Australian Pancreatic Cancer Genome Initiative, Hofmann O, Eshleman JR, Pilarsky C, Scarpa A, Musgrove EA, Gill AJ, Pearson JV, Grimmond SM, Waddell N, Biankin AV.

Gastroenterology. 2017 Jan;152(1):68-74.e2. doi: 10.1053/j.gastro.2016.09.060. Epub 2016 Nov 15.

PMID:
27856273
50.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.

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