Publications

6444 items matching your search terms.

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Kaur, S.; Van Bergen, N. J.; Verhey, K. J.; Nowell, C. J.; Budaitis, B.; Yue, Y.; Ellaway, C.; Brunetti-Pierri, N.; Cappuccio, G.; Bruno, I.; Boyle, L.; Nigro, V.; Torella, A.; Roscioli, T.; Cowley, M. J.; Massey, S.; Sonawane, R.; Burton, M. D.; Schonewolf-Greulich, B.; Tumer, Z.; Chung, W. K.; Gold, W. A.; Christodoulou, J.

HUMAN MUTATION 41 (10) :1761-1774, 2020 10.1002/humu.24079

Targeted exome sequencing designed for blood group, platelet, and neutrophil antigen investigations: Proof-of-principle study for a customized single-test system

Roulis, Eileen; Schoeman, Elizna; Hobbs, Matthew; Jones, Greg; Burton, Mark; Pahn, Gail; Liew, Yew-Wah; Flower, Robert; Hyland, Catherine

TRANSFUSION 60 (9) :2108-2120, 2020 10.1111/trf.15945

Genopo: a nanopore sequencing analysis toolkit for portable Android devices

Samarakoon, Hiruna; Punchihewa, Sanoj; Senanayake, Anjana; Hammond, Jillian M.; Stevanovski, Igor; Ferguson, James M.; Ragel, Roshan; Gamaarachchi, Hasindu; Deveson, Ira W.

Communications Biology 3 (1) :538, 2020 10.1038/s42003-020-01270-z

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Bailey, M. H.; Meyerson, W. U.; Dursi, L. J.; Wang, L. B.; Dong, G.; Liang, W. W.; Weerasinghe, A.; Li, S.; Kelso, S.; MC3 Working Group, .; PCAWG novel somatic mutation calling methods working group, .; Saksena, G.; Ellrott, K.; Wendl, M. C.; Wheeler, D. A.; Getz, G.; Simpson, J. T.; Gerstein, M. B.; Ding, L.; PCAWG Consortium, .

Nature Communications 11 (1) :4748, 2020 10.1038/s41467-020-18151-y

TLR4/AP-1-Targeted Anti-Inflammatory Intervention Attenuates Insulin Sensitivity and Liver Steatosis

Hu, X.; Zhou, J.; Song, S. S.; Kong, W.; Shi, Y. C.; Chen, L. L.; Zeng, T. S.

MEDIATORS OF INFLAMMATION 2020 :2960517, 2020 10.1155/2020/2960517

The Role of the ECM in Lung Cancer Dormancy and Outgrowth

Parker, A. L.; Cox, T. R.

Frontiers in Oncology 10 :1766, 2020 10.3389/fonc.2020.01766

Molecular barcoding of native RNAs using nanopore sequencing and deep learning

Smith, Martin A; Ersavas, Tansel; Ferguson, James M; Liu, Huanle; Lucas, Morghan C; Begik, Oguzhan; Bojarski, Lilly; Barton, Kirston; Novoa, Eva Maria

GENOME RESEARCH 30 (9) :1345-1353, 2020 10.1101/gr.260836.120

Targeting the Id1-Kif11 Axis in Triple-Negative Breast Cancer Using Combination Therapy

Thankamony, A. P.; Murali, R.; Karthikeyan, N.; Varghese, B. A.; Teo, W. S.; McFarland, A.; Roden, D. L.; Holliday, H.; Konrad, C. V.; Cazet, A.; Dodson, E.; Yang, J.; Baker, L. A.; George, J. T.; Levine, H.; Jolly, M. K.; Swarbrick, A.; Nair, R.

Biomolecules 10 (9) :E1295, 2020 10.3390/biom10091295

Post-GWAS Polygenic Risk Score: Utility and Challenges

Nguyen, T. V.; Eisman, J. A.

JOURNAL OF BONE AND MINERAL RESEARCH PLUS 4 (11) :e10411, 2020 10.1002/jbm4.10411

SMOC1 is a glucose-responsive hepatokine and therapeutic target for glycemic control

Montgomery, M. K.; Bayliss, J.; Devereux, C.; Bezawork-Geleta, A.; Roberts, D.; Huang, C.; Schittenhelm, R. B.; Ryan, A.; Townley, S. L.; Selth, L. A.; Biden, T. J.; Steinberg, G. R.; Samocha-Bonet, D.; Meex, R. C. R.; Watt, M. J.

Science Translational Medicine 12 (559) :eaaz8048, 2020 10.1126/scitranslmed.aaz8048

Decline in Muscle Strength and Performance Predicts Fracture Risk in Elderly Women and Men

Alajlouni, D.; Bliuc, D.; Tran, T.; Eisman, J. A.; Nguyen, T. V.; Center, J. R.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 105 (9) 2020 10.1210/clinem/dgaa414

RAF1 rearrangements are common in pancreatic acinar cell carcinomas

Prall, O. W. J.; Nastevski, V.; Xu, H.; McEvoy, C. R. E.; Vissers, J. H. A.; Byrne, D. J.; Takano, E.; Yerneni, S.; Ellis, S.; Green, T.; Mitchell, C. A.; Murray, W. K.; Scott, C. L.; Grimmond, S. M.; Hofmann, O.; Papenfuss, A.; Kee, D.; Fellowes, A.; Brown, I. S.; Miller, G.; Kumarasinghe, M. P.; Perren, A.; Nahm, C. B.; Mittal, A.; Samra, J.; Ahadi, M.; Fox, S. B.; Chou, A.; Gill, A. J.

MODERN PATHOLOGY 33 (9) :1811-1821, 2020 10.1038/s41379-020-0545-9

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Topf, A.; Johnson, K.; Bates, A.; Phillips, L.; Chao, K. R.; England, E. M.; Laricchia, K. M.; Mullen, T.; Valkanas, E.; Xu, L.; Bertoli, M.; Blain, A.; Casasus, A. B.; Duff, J.; Mroczek, M.; Specht, S.; Lek, M.; Ensini, M.; MacArthur, D. G.; consortium, Myo-Seq; Straub, V.

GENETICS IN MEDICINE 22 (9) :1478-1488, 2020 10.1038/s41436-020-0840-3

Editorial Comment

Thompson, J. E.; Stricker, P. D.

JOURNAL OF UROLOGY 204 (3) :495, 2020 10.1097/JU.0000000000000811.01

Clinical and pathological associations of PTEN expression in ovarian cancer: a multicentre study from the Ovarian Tumour Tissue Analysis Consortium

Martins, F. C.; Couturier, D. L.; Paterson, A.; Karnezis, A. N.; Chow, C.; Nazeran, T. M.; Odunsi, A.; Gentry-Maharaj, A.; Vrvilo, A.; Hein, A.; Talhouk, A.; Osorio, A.; Hartkopf, A. D.; Brooks-Wilson, A.; DeFazio, A.; Fischer, A.; Hartmann, A.; Hernandez, B. Y.; McCauley, B. M.; Karpinskyj, C.; de Sousa, C. B.; Hogdall, C.; Tiezzi, D. G.; Herpel, E.; Taran, F. A.; Modugno, F.; Keeney, G.; Nelson, G.; Steed, H.; Song, H.; Luk, H.; Benitez, J.; Alsop, J.; Koziak, J. M.; Lester, J.; Rothstein, J. H.; de Andrade, J. M.; Lundvall, L.; Paz-Ares, L.; Robles-Diaz, L.; Wilkens, L. R.; Garcia, M. J.; Intermaggio, M. P.; Alcaraz, M. L.; Brett, M. A.; Beckmann, M. W.; Jimenez-Linan, M.; Anglesio, M.; Carney, M. E.; Schneider, M.; Traficante, N.; Pejovic, N.; Singh, N.; Le, N.; Sinn, P.; Ghatage, P.; Erber, R.; Edwards, R.; Vierkant, R.; Ness, R. B.; Leung, S.; Orsulic, S.; Brucker, S. Y.; Kaufmann, S. H.; Fereday, S.; Gayther, S.; Winham, S. J.; Kommoss, S.; Pejovic, T.; Longacre, T. A.; McGuire, V.; Rhenius, V.; Sieh, W.; Shvetsov, Y. B.; Whittemore, A. S.; Staebler, A.; Karlan, B. Y.; Rodriguez-Antona, C.; Bowtell, D. D.; Goode, E. L.; Hogdall, E.; Candido Dos Reis, F. J.; Gronwald, J.; Chang-Claude, J.; Moysich, K. B.; Kelemen, L. E.; Cook, L. S.; Goodman, M. T.; Fasching, P. A.; Crawford, R.; Deen, S.; Menon, U.; Huntsman, D. G.; Kobel, M.; Ramus, S. J.; Pharoah, P. D. P.; Brenton, J. D.

British Journal of Cancer 123 (5) :793-802, 2020 10.1038/s41416-020-0900-0

Menopausal hormone therapy prior to the diagnosis of ovarian cancer is associated with improved survival

Brieger, K. K.; Peterson, S.; Lee, A. W.; Mukherjee, B.; Bakulski, K. M.; Alimujiang, A.; Anton-Culver, H.; Anglesio, M. S.; Bandera, E. V.; Berchuck, A.; Bowtell, D. D. L.; Chenevix-Trench, G.; Cho, K. R.; Cramer, D. W.; DeFazio, A.; Doherty, J. A.; Fortner, R. T.; Garsed, D. W.; Gayther, S. A.; Gentry-Maharaj, A.; Goode, E. L.; Goodman, M. T.; Harris, H. R.; Hogdall, E.; Huntsman, D. G.; Shen, H.; Jensen, A.; Johnatty, S. E.; Jordan, S. J.; Kjaer, S. K.; Kupryjanczyk, J.; Lambrechts, D.; McLean, K.; Menon, U.; Modugno, F.; Moysich, K.; Ness, R.; Ramus, S. J.; Richardson, J.; Risch, H.; Rossing, M. A.; Trabert, B.; Wentzensen, N.; Ziogas, A.; Terry, K. L.; Wu, A. H.; Hanley, G. E.; Pharoah, P.; Webb, P. M.; Pike, M. C.; Pearce, C. L.; Ovarian Cancer Association, Consortium

GYNECOLOGIC ONCOLOGY 158 (3) :702-709, 2020 10.1016/j.ygyno.2020.06.481