Publications

Publications Search

Search for publications by author
Search for publications by abstract keyword(s)

Search results

5909 items matching your search terms.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Study, Deciphering Developmental Disorders; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Consortium, Genomics England Research; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloe; Lee, Hane; Lesca, Gaetan; Francois, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; BioResource, NIHR; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frederique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Network, Undiagnosed Diseases; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmao, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A
BRAIN 143 (11) :3242-3261, 2020 10.1093/brain/awaa304
Analytical validity of nanopore sequencing for rapid SARS-CoV-2 genome analysis
Bull, Rowena A.; Adikari, Thiruni; Hammond, Jillian M.; Stevanovski, Igor; Ferguson, James M.; Beukers, Alicia G.; Naing, Zin; Yeang, Malinna; Verich, Andrey; Gamaarachichi, Hasindu; Kim, Ki Wook; Luciani, Fabio; Stelzer-Braid, Sacha; Eden, John-Sebastian; Rawlinson, William D.; van Hal, Sebastiaan J.; Deveson, Ira W.
Nature Communications 11 (1) :6272, 2020 https://doi.org/10.1038/s41467-020-20075-6
Single-Cell Immune Profiling in Coronary Artery Disease: The Role of State-of-the-Art Immunophenotyping With Mass Cytometry in the Diagnosis of Atherosclerosis
Kott, K. A.; Vernon, S. T.; Hansen, T.; de Dreu, M.; Das, S. K.; Powell, J.; Fazekas de St Groth, B.; Di Bartolo, B. A.; McGuire, H. M.; Figtree, G. A.
Journal of the American Heart Association 9 (24) :e017759, 2020 10.1161/JAHA.120.017759
Coordinated regulation of energy and glucose homeostasis by insulin and the NPY system
Lee, N. J.; Herzog, H.
JOURNAL OF NEUROENDOCRINOLOGY :e12925, 2020 10.1111/jne.12925
Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia
Phua, C. S.; Kumar, K. R.; Levy, S.
JOURNAL OF THE NEUROLOGICAL SCIENCES 419 :117167, 2020 10.1016/j.jns.2020.117167
DNA G-Quadruplex and i-Motif Structure Formation Is Interdependent in Human Cells
King, J. J.; Irving, K. L.; Evans, C. W.; Chikhale, R. V.; Becker, R.; Morris, C. J.; Pena Martinez, C. D.; Schofield, P.; Christ, D.; Hurley, L. H.; Waller, Z. A. E.; Iyer, K. S.; Smith, N. M.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY 142 (49) :20600-20604, 2020 10.1021/jacs.0c11708
Androgen deprivation in prostate cancer: benefits of home-based resistance training
Lam, T.; Cheema, B.; Hayden, A.; Lord, S. R.; Gurney, H.; Gounden, S.; Reddy, N.; Shahidipour, H.; Read, S.; Stone, G.; McLean, M.; Birzniece, V.
SPORTS MEDICINE 6 (1) :59, 2020 10.1186/s40798-020-00288-1
Multidisciplinary management of acromegaly: A consensus
Giustina, A.; Barkhoudarian, G.; Beckers, A.; Ben-Shlomo, A.; Biermasz, N.; Biller, B.; Boguszewski, C.; Bolanowski, M.; Bollerslev, J.; Bonert, V.; Bronstein, M. D.; Buchfelder, M.; Casanueva, F.; Chanson, P.; Clemmons, D.; Fleseriu, M.; Formenti, A. M.; Freda, P.; Gadelha, M.; Geer, E.; Gurnell, M.; Heaney, A. P.; Ho, K. K. Y.; Ioachimescu, A. G.; Lamberts, S.; Laws, E.; Losa, M.; Maffei, P.; Mamelak, A.; Mercado, M.; Molitch, M.; Mortini, P.; Pereira, A. M.; Petersenn, S.; Post, K.; Puig-Domingo, M.; Salvatori, R.; Samson, S. L.; Shimon, I.; Strasburger, C.; Swearingen, B.; Trainer, P.; Vance, M. L.; Wass, J.; Wierman, M. E.; Yuen, K. C. J.; Zatelli, M. C.; Melmed, S.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS 21 (4) :667-678, 2020 10.1007/s11154-020-09588-z
Lean mass and peak bone mineral density
Nguyen, H. G.; Pham, M. T.; Ho-Pham, L. T.; Nguyen, T. V.
Osteoporosis and Sarcopenia 6 (4) :212-216, 2020 10.1016/j.afos.2020.10.001
Clinical Utility of Computer-Aided Diagnosis of Vertebral Fractures From Computed Tomography Images
Kolanu, N.; Silverstone, E. J.; Ho, B. H.; Pham, H.; Hansen, A.; Pauley, E.; Quirk, A. R.; Sweeney, S. C.; Center, J. R.; Pocock, N. A.
JOURNAL OF BONE AND MINERAL RESEARCH 35 (12) :2307-2312, 2020 10.1002/jbmr.4146
Protein-carbohydrate ingestion alters Vps34 cellular localization independent of changes in kinase activity in human skeletal muscle
Hodson, N.; Dent, J. R.; Song, Z.; O'Leary, M. F.; Nicholson, T.; Jones, S. W.; Murray, J. T.; Jeromson, S.; Hamilton, D. L.; Breen, L.; Philp, A.
EXPERIMENTAL PHYSIOLOGY 105 (12) :2178-2189, 2020 10.1113/EP088805
The Role of Diet in the Pathogenesis and Management of Inflammatory Bowel Disease: A Review
Wark, G.; Samocha-Bonet, D.; Ghaly, S.; Danta, M.
Nutrients 13 (1) 2020 10.3390/nu13010135
Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria
Rui Yang, Federico Mele, Lisa Worley, David Langlais, Jeremie Rosain, Ibithal Benhsaien, Houda Elarabi, Carys A. Croft, Jean-Marc Doisne, Peng Zhang, Marc Weisshaar, David Jarrossay, Daniela Latorre, Yichao Shen, Jing Han, Conor Gruber, Janet Markle, Fatima Al Ali, Mahbuba Rahman, Taushif Khan, Yoann Seeleuthner, View ORCID ProfileGaspard Kerner, Lucas T. Husquin, Julia L. Maclsaac, Mohamed Jeljeli, Fatima Ailal, Michael S. Kobor, Carmen Oleaga-Quintas, Manon Roynard, Mathieu Bourgey, Jamila El Baghdadi, Stephanie Boisson-Dupuis, Anne Puel, Frederic Batteux, Flore Rozenberg, Nico Marr, Qiang Pan-Hammarstrom, Dusan Bogunovic, Lluis Quintana-Murci, Thomas Carroll, Cindy S Ma, Laurent Abel, Aziz Bousfiha, James P. Di Santo, Laurie H Glimcher, Philippe Gros, Stuart G Tangye, Federica Sallusto, Jacinta Bustamante, Jean-Laurent Casanova
CELL 183 (7) :1826-1847 e31, 2020 10.1016/j.cell.2020.10.046.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
S Ghosh, S Bal, ESJ Edwards, B Pillay, R Jimenez Heredia, F Cipe, G Rao, E Salzer, S Zoghi, H Abolhassani, T Momen, E Gostick, DA Price, Y Zhang, AJ Oler, C Gonzago-Jauregui, B Erman, A Metin, I Ilhan, S Haskologlu, C Islamoglu, K Baskin, S Ceylaner, E Yilmaz, E Unal, M Karakukcu, D Berghuis, T Cole, AK Gupta, F Hauck, AIM Hoepelman, S Baris, E Karakoc-Aydiner, A Ozen, L Kager, D Holzinger, M Paulussen, R Kruger, R Meisel, P Oommen, E Morris, B Neven, A Worth, J van Montfrans, PLA Fraaij, S Choo, F Dogu, EG Davies, S Burns, G Duckers, R Perez Becker, H von Bernuth, S Latour, M Faraci, M Gattorno, HC Su, Q Pan Hammarstrom, L Hammarstrom, MJ Lenardo, CS Ma, T Niehues, A Aghamohammadi, N Rezaei, A Ikinciogullari, SG Tangye, AC Lankester, K Boztug
BLOOD 136 (23) :2638-2655, 2020 doi: 10.1182/blood.2020006738
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
Swan, A. L.; Schutt, C.; Rozman, J.; Del Mar Muniz Moreno, M.; Brandmaier, S.; Simon, M.; Leuchtenberger, S.; Griffiths, M.; Brommage, R.; Keskivali-Bond, P.; Grallert, H.; Werner, T.; Teperino, R.; Becker, L.; Miller, G.; Moshiri, A.; Seavitt, J. R.; Cissell, D. D.; Meehan, T. F.; Acar, E. F.; Lelliott, C. J.; Flenniken, A. M.; Champy, M. F.; Sorg, T.; Ayadi, A.; Braun, R. E.; Cater, H.; Dickinson, M. E.; Flicek, P.; Gallegos, J.; Ghirardello, E. J.; Heaney, J. D.; Jacquot, S.; Lally, C.; Logan, J. G.; Teboul, L.; Mason, J.; Spielmann, N.; McKerlie, C.; Murray, S. A.; Nutter, L. M. J.; Odfalk, K. F.; Parkinson, H.; Prochazka, J.; Reynolds, C. L.; Selloum, M.; Spoutil, F.; Svenson, K. L.; Vales, T. S.; Wells, S. E.; White, J. K.; Sedlacek, R.; Wurst, W.; Lloyd, K. C. K.; Croucher, P. I.; Fuchs, H.; Williams, G. R.; Bassett, J. H. D.; Gailus-Durner, V.; Herault, Y.; Mallon, A. M.; Brown, S. D. M.; Mayer-Kuckuk, P.; Hrabe de Angelis, M.; Consortium, Impc
PLOS GENET 16 (12) :e1009190, 2020 10.1371/journal.pgen.1009190