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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
Qiu, J.; Kumar, K. R.; Watson, E.; Ahmad, K.; Sue, C. M.; Hayes, M. W.
Journal of Movement Disorders 14 (2) :157-160, 2021 10.14802/jmd.20159
Prophylactic central lymph node dissection informs the decision of radioactive iodine ablation in papillary thyroid cancer
Nylen, C.; Eriksson, F. B.; Yang, A.; Aniss, A.; Turchini, J.; Learoyd, D.; Robinson, B. G.; Gill, A. J.; Clifton-Bligh, R. J.; Sywak, M. S.; Glover, A. R.; Sidhu, S. B.
AMERICAN JOURNAL OF SURGERY 221 (5) :886-892, 2021 10.1016/j.amjsurg.2020.08.012
Loss of hnRNPLL-dependent splicing of Ptprc has no impact on B-cell development, activation and terminal differentiation into antibody-secreting cells
Yabas, M.; Yazicioglu, Y. F.; Hoyne, G. F.; Goodnow, C. C.; Enders, A.
IMMUNOLOGY AND CELL BIOLOGY 99 (5) :532-541, 2021 10.1111/imcb.12433
Adjuvant Pertuzumab and Trastuzumab in Early HER2-Positive Breast Cancer in the APHINITY Trial: 6 Years' Follow-Up
Piccart, M.; Procter, M.; Fumagalli, D.; de Azambuja, E.; Clark, E.; Ewer, M. S.; Restuccia, E.; Jerusalem, G.; Dent, S.; Reaby, L.; Bonnefoi, H.; Krop, I.; Liu, T. W.; Pienkowski, T.; Toi, M.; Wilcken, N.; Andersson, M.; Im, Y. H.; Tseng, L. M.; Lueck, H. J.; Colleoni, M.; Monturus, E.; Sicoe, M.; Guillaume, S.; Bines, J.; Gelber, R. D.; Viale, G.; Thomssen, C.; Committee, Aphinity Steering; Investigators
JOURNAL OF CLINICAL ONCOLOGY 39 (13) :1448-1457, 2021 10.1200/JCO.20.01204
Diet-induced vitamin D deficiency reduces skeletal muscle mitochondrial respiration
Ashcroft, S. P.; Fletcher, G.; Philp, A. M.; Jenkinson, C.; Das, S.; Hansbro, P. M.; Atherton, P. J.; Philp, A.
JOURNAL OF ENDOCRINOLOGY 249 (2) :113-124, 2021 10.1530/JOE-20-0233
Peripheral-specific Y1 receptor antagonism increases thermogenesis and protects against diet-induced obesity
Yan, C.; Zeng, T.; Lee, K.; Nobis, M.; Loh, K.; Gou, L.; Xia, Z.; Gao, Z.; Bensellam, M.; Hughes, W.; Lau, J.; Zhang, L.; Ip, C. K.; Enriquez, R.; Gao, H.; Wang, Q. P.; Wu, Q.; Haigh, J. J.; Laybutt, D. R.; Timpson, P.; Herzog, H.; Shi, Y. C.
Nature Communications 12 (1) :2622, 2021 10.1038/s41467-021-22925-3
Chimeric synthetic reference standards enable cross-validation of positive and negative controls in SARS-CoV-2 molecular tests
Madala, B. S.; Reis, A. L. M.; Deveson, I. W.; Rawlinson, W.; Mercer, T. R.
Scientific Reports 11 (1) :2636, 2021 10.1038/s41598-021-81760-0
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Jurgens, J. A.; Barry, B. J.; Lemire, G.; Chan, W. M.; Whitman, M. C.; Shaaban, S.; Robson, C. D.; MacKinnon, S.; England, E. M.; McMillan, H. J.; Kelly, C.; Pratt, B. M.; Care4Rare Canada, Consortium; O'Donnell-Luria, A.; MacArthur, D. G.; Boycott, K. M.; Hunter, D. G.; Engle, E. C.
EUROPEAN JOURNAL OF HUMAN GENETICS 29 (5) :816-826, 2021 10.1038/s41431-020-00804-7
Detection of somatic structural variants from short-read next-generation sequencing data
Gong, T.; Hayes, V. M.; Chan, E. K. F.
BRIEFINGS IN BIOINFORMATICS 2021 10.1093/bib/bbaa056
Quantitative profiling of pseudouridylation dynamics in native RNAs with nanopore sequencing
Begik, O.; Lucas, M. C.; Pryszcz, L. P.; Ramirez, J. M.; Medina, R.; Milenkovic, I.; Cruciani, S.; Liu, H.; Vieira, H. G. S.; Sas-Chen, A.; Mattick, J. S.; Schwartz, S.; Novoa, E. M.
NATURE BIOTECHNOLOGY 2021 10.1038/s41587-021-00915-6
A review and perspective on the assessment, management and prevention of fragility fractures in patients with osteoporosis and chronic kidney disease
Hampson, G.; Elder, G. J.; Cohen-Solal, M.; Abrahamsen, B.
ENDOCRINE 73 (3) :509-529, 2021 10.1007/s12020-021-02735-9
A G316A Polymorphism in the Ornithine Decarboxylase Gene Promoter Modulates MYCN-Driven Childhood Neuroblastoma
Gamble, L. D.; Purgato, S.; Henderson, M. J.; Di Giacomo, S.; Russell, A. J.; Pigini, P.; Murray, J.; Valli, E.; Milazzo, G.; Giorgi, F. M.; Cowley, M.; Ashton, L. J.; Bhalshankar, J.; Schleiermacher, G.; Rihani, A.; Van Maerken, T.; Vandesompele, J.; Speleman, F.; Versteeg, R.; Koster, J.; Eggert, A.; Noguera, R.; Stallings, R. L.; Tonini, G. P.; Fong, K.; Vaksman, Z.; Diskin, S. J.; Maris, J. M.; London, W. B.; Marshall, G. M.; Ziegler, D. S.; Hogarty, M. D.; Perini, G.; Norris, M. D.; Haber, M.
Cancers 13 (8) 2021 10.3390/cancers13081807
2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology
Epstein, R. J.; Tian, L. J.; Gu, Y. F.
Journal of Oncology 2021 :9955456, 2021 10.1155/2021/9955456
Transcriptomic Profiling of Human Pluripotent Stem Cell-derived Retinal Pigment Epithelium over Time
Lidgerwood, G. E.; Senabouth, A.; Smith-Anttila, C. J. A.; Gnanasambandapillai, V.; Kaczorowski, D. C.; Amann-Zalcenstein, D.; Fletcher, E. L.; Naik, S. H.; Hewitt, A. W.; Powell, J. E.; Pebay, A.
GENOMICS PROTEOMICS & BIOINFORMATICS 2021 10.1016/j.gpb.2020.08.002
Focal ablation of apical prostate cancer lesions with irreversible electroporation (IRE)
Blazevski, A.; Amin, A.; Scheltema, M. J.; Balakrishnan, A.; Haynes, A. M.; Barreto, D.; Cusick, T.; Thompson, J.; Stricker, P. D.
WORLD JOURNAL OF UROLOGY 39 (4) :1107-1114, 2021 10.1007/s00345-020-03275-z
Machine Learning Approach to Predicting COVID-19 Disease Severity Based on Clinical Blood Test Data: Statistical Analysis and Model Development
Aktar, S.; Ahamad, M. M.; Rashed-Al-Mahfuz, M.; Azad, A.; Uddin, S.; Kamal, A.; Alyami, S. A.; Lin, P. I.; Islam, S. M. S.; Quinn, J. M.; Eapen, V.; Moni, M. A.
JMIR Medical Informatics 9 (4) :e25884, 2021 10.2196/25884