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Seave: a comprehensive web platform for storing and interrogating human genomic variation
Gayevskiy, V.; Roscioli, T.; Dinger, M. E.; Cowley, M. J.
Bioinformatics 35 (1) :122-125, 2019 10.1093/bioinformatics/bty540
Myeloid cell leukemia 1 (MCL-1), an unexpected modulator of protein kinase signaling during invasion
Young, A. I.; Timpson, P.; Gallego-Ortega, D.; Ormandy, C. J.; Oakes, S. R.
Cell Adhesion & Migration 12 (6) :513-523, 2018 10.1080/19336918.2017.1393591
Comparison of 4 commercial kits for the extraction of circulating DNA from plasma
Warton, K.; Graham, L. J.; Yuwono, N.; Samimi, G.
Cancer Genetics 228-229 :143-150, 2018 10.1016/j.cancergen.2018.02.004
Jak2V617F and Dnmt3a loss cooperate to induce myelofibrosis through activated enhancer-driven inflammation
Jacquelin, S.; Straube, J.; Cooper, L.; Vu, T.; Song, A.; Bywater, M.; Baxter, E.; Heidecker, M.; Wackrow, B.; Porter, A.; Ling, V.; Green, J.; Austin, R.; Kazakoff, S.; Waddell, N.; Hesson, L. B.; Pimanda, J. E.; Stegelmann, F.; Bullinger, L.; Dohner, K.; Rampal, R. K.; Heckl, D.; Hill, G. R.; Lane, S. W.
Blood 132 (26) :2707-2721, 2018 10.1182/blood-2018-04-846220
OpenAccess publication Is Obesity in Young People With Psychosis a Foregone Conclusion? Markedly Excessive Energy Intake Is Evident Soon After Antipsychotic Initiation
Teasdale, S. B.; Ward, P. B.; Jarman, R.; Wade, T.; Rossimel, E.; Curtis, J.; Lappin, J.; Watkins, A.; Samaras, K.
Frontiers in Psychiatry 9 2018 ARTN 725 10.3389/fpsyt.2018.00725
Human IFN-y immunity to mycobacteria is governed by both IL-12 and IL-23
Martinez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramirez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlan A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL.
Science Immunology 3 (30) :eaau6759, 2018 10.1126/sciimmunol.aau6759
OpenAccess publication Deletion distal to the PAX6 coding region reveals a novel basis for familial cosegregation of aniridia and diabetes mellitus
Macdonald, G. C.; Hesselson, S. E.; Chan, J. Y.; Jenkins, A. B.; Laybutt, D. R.; Hesselson, D.; Campbell, L. V.
DIABETES RESEARCH AND CLINICAL PRACTICE 148 :64-71, 2018 10.1016/j.diabres.2018.12.002
Tuberculosis and impaired IL-23–dependent IFN- immunity in humans homozygous for a common TYK2 missense variant
Stephanie Boisson-Dupuis1,2,3*+, Noe Ramirez-Alejo1+, Zhi Li4,5++, Etienne Patin6,7,8++, Geetha Rao9++, Gaspard Kerner2,3++, Che Kang Lim10,11++, Dimitry N. Krementsov12++, Nicholas Hernandez1, Cindy S. Ma9,13, Qian Zhang14, Janet Markle1, Ruben Martinez-Barricarte1, Kathryn Payne9, Robert Fisch1, Caroline Deswarte2,3, Joshua Halpern1, Matthieu Bouaziz2,3, Jeanette Mulwa1, Durga Sivanesan15,16, Tomi Lazarov17, Rodrigo Naves18, Patricia Garcia19, Yuval Itan1,20,21, Bertrand Boisson1,2,3, Alix Checchi2,3, Fabienne Jabot-Hanin2,3, Aurelie Cobat2,3, Andrea Guennoun14, Carolyn C. Jackson1,22, Sevgi Pekcan23, Zafer Caliskaner24, Jaime Inostroza25, Beatriz Tavares Costa-Carvalho26, Jose Antonio Tavares Albuquerque27, Humberto Garcia-Ortiz28, Lorena Orozco28, Tayfun Ozcelik29, Ahmed Abid30, Ismail Abderahmani Rhorfi31, Hicham Souhi30, Hicham Naji Amrani30, Adil Zegmout30, Frederic Geissmann17, Stephen W. Michnick15, Ingrid Muller-Fleckenstein31, Bernhard Fleckenstein31, Anne Puel1,2,3, Michael J. Ciancanelli1, Nico Marr32, Hassan Abolhassani10,33, Maria Elvira Balcells34, Antonio Condino-Neto27, Alexis Strickler35, Katia Abarca36, Cory Teuscher37, Hans D. Ochs38, Ismail Reisli39, Esra H. Sayar39, Jamila El-Baghdadi40, Jacinta Bustamante1,2,3,41SS, Lennart Hammarstrom10,11,42SS, Stuart G. Tangye9,13SS, Sandra Pellegrini4,5SS, Lluis Quintana-Murci6,7,8SS, Laurent Abel1,2,3||, Jean-Laurent Casanova
Science Immunology 3 (30) :pii: eaau8714, 2018
Engineering CRISPR-Cas9 RNA-Protein Complexes for Improved Function and Delivery
Rouet, R.; de Onate, L.; Lie, J.; Murthy, N.; Wilson, RC.
CRISPR Journal 1 (6) 2018
OpenAccess publication High diabetes prevalence and insulin medication errors in hospital patients
Taylor, J.E.; Campbell,L.V.; Zhang, L; Greenfield, J.R.
INTERNAL MEDICINE JOURNAL 48 (12) :1529-1532, 2018 10.1111/imj.14124
OpenAccess publication Mother-child transmission of epigenetic information by tunable polymorphic imprinting
Carpenter, B. L.; Zhou, W.; Madaj, Z.; DeWitt, A. K.; Ross, J. P.; Gronbaek, K.; Liang, G.; Clark, S. J.; Molloy, P. L.; Jones, P. A.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA :1-8, 2018 10.1073/pnas.1815005115
CD44 orchestrates metastatic teamwork
Chaffer, C. L.; Goetz, J. G.
DEVELOPMENTAL CELL 47 (6) :691-693, 2018 10.1016/j.devcel.2018.11.038
The role of dietary phosphate restriction in chronic kidney disease
Elder, G. J.; Malik, A.; Lambert, K.
NEPHROLOGY 23 (12) :1107-1115, 2018 10.1111/nep.13188
OpenAccess publication Whole Genome Sequencing Reveals Elevated Tumor Mutational Burden and Initiating Driver Mutations in African Men with Treatment-Naive, High-Risk Prostate Cancer
Jaratlerdsiri, W.; Chan, E. K. F.; Gong, T.; Petersen, D. C.; Kalsbeek, A. M. F.; Venter, P. A.; Stricker, P. D.; Bornman, M. R.; Hayes, V. M.
CANCER RESEARCH 78 :6736-6746, 2018 10.1158/0008-5472.CAN-18-0254
OpenAccess publication Amphioxus functional genomics and the origins of vertebrate gene regulation
Marletaz, F.; Firbas, P. N.; Maeso, I.; Tena, J. J.; Bogdanovic, O.; Perry, M.; Wyatt, C. D. R.; de la Calle-Mustienes, E.; Bertrand, S.; Burguera, D.; Acemel, R. D.; van Heeringen, S. J.; Naranjo, S.; Herrera-Ubeda, C.; Skvortsova, K.; Jimenez-Gancedo, S.; Aldea, D.; Marquez, Y.; Buono, L.; Kozmikova, I.; Permanyer, J.; Louis, A.; Albuixech-Crespo, B.; Le Petillon, Y.; Leon, A.; Subirana, L.; Balwierz, P. J.; Duckett, P. E.; Farahani, E.; Aury, J. M.; Mangenot, S.; Wincker, P.; Albalat, R.; Benito-Gutierrez, E.; Canestro, C.; Castro, F.; D'Aniello, S.; Ferrier, D. E. K.; Huang, S.; Laudet, V.; Marais, G. A. B.; Pontarotti, P.; Schubert, M.; Seitz, H.; Somorjai, I.; Takahashi, T.; Mirabeau, O.; Xu, A.; Yu, J. K.; Carninci, P.; Martinez-Morales, J. R.; Crollius, H. R.; Kozmik, Z.; Weirauch, M. T.; Garcia-Fernandez, J.; Lister, R.; Lenhard, B.; Holland, P. W. H.; Escriva, H.; Gomez-Skarmeta, J. L.; Irimia, M.
NATURE (564) :64-70, 2018 10.1038/s41586-018-0734-6
OpenAccess publication Post-exercise skeletal muscle signaling responses to moderate-to high-intensity steady-state exercise in the fed or fasted state
Stocks, B.; Dent, J. R.; Ogden, H. B.; Zemp, M.; Philp, A.
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM 2018 10.1152/ajpendo.00311.2018