Publications

6429 items matching your search terms.

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J.; Francioli, L. C.; Tiao, G.; Cummings, B. B.; Alfoldi, J.; Wang, Q.; Collins, R. L.; Laricchia, K. M.; Ganna, A.; Birnbaum, D. P.; Gauthier, L. D.; Brand, H.; Solomonson, M.; Watts, N. A.; Rhodes, D.; Singer-Berk, M.; England, E. M.; Seaby, E. G.; Kosmicki, J. A.; Walters, R. K.; Tashman, K.; Farjoun, Y.; Banks, E.; Poterba, T.; Wang, A.; Seed, C.; Whiffin, N.; Chong, J. X.; Samocha, K. E.; Pierce-Hoffman, E.; Zappala, Z.; O'Donnell-Luria, A. H.; Minikel, E. V.; Weisburd, B.; Lek, M.; Ware, J. S.; Vittal, C.; Armean, I. M.; Bergelson, L.; Cibulskis, K.; Connolly, K. M.; Covarrubias, M.; Donnelly, S.; Ferriera, S.; Gabriel, S.; Gentry, J.; Gupta, N.; Jeandet, T.; Kaplan, D.; Llanwarne, C.; Munshi, R.; Novod, S.; Petrillo, N.; Roazen, D.; Ruano-Rubio, V.; Saltzman, A.; Schleicher, M.; Soto, J.; Tibbetts, K.; Tolonen, C.; Wade, G.; Talkowski, M. E.; Genome Aggregation Database, Consortium; Neale, B. M.; Daly, M. J.; MacArthur, D. G.

NATURE 581 (7809) :434-443, 2020 10.1038/s41586-020-2308-7

Capillary-assisted microfluidic biosensing platform captures single cell secretion dynamics in nanoliter compartments

Hassanzadeh-Barforoushi, A.; Warkiani, M. E.; Gallego-Ortega, D.; Liu, G.; Barber, T.

BIOSENSORS & BIOELECTRONICS 155 :112113, 2020 10.1016/j.bios.2020.112113

Topography of polyp recurrence in eosinophilic chronic rhinosinusitis

Grayson, J. W.; Li, W.; Ho, J.; Alvarado, R.; Rimmer, J.; Sewell, W. A.; Harvey, R. J.

International Forum of Allergy & Rhinology 10 (5) :604-609, 2020 10.1002/alr.22529

Breathing New Life into the Mechanisms of Platinum Resistance in Lung Adenocarcinoma

Gonzalez-Rajal, A.; Hastings, J. F.; Watkins, D. N.; Croucher, D. R.; Burgess, A.

Frontiers in Cell and Developmental Biology 8 :305, 2020 10.3389/fcell.2020.00305

Transcript expression-aware annotation improves rare variant interpretation

Cummings, B. B.; Karczewski, K. J.; Kosmicki, J. A.; Seaby, E. G.; Watts, N. A.; Singer-Berk, M.; Mudge, J. M.; Karjalainen, J.; Satterstrom, F. K.; O'Donnell-Luria, A. H.; Poterba, T.; Seed, C.; Solomonson, M.; Alfoldi, J.; Genome Aggregation Database Production, Team; Genome Aggregation Database, Consortium; Daly, M. J.; MacArthur, D. G.

NATURE 581 (7809) :452-458, 2020 10.1038/s41586-020-2329-2

A structural variation reference for medical and population genetics

Collins, R. L.; Brand, H.; Karczewski, K. J.; Zhao, X.; Alfoldi, J.; Francioli, L. C.; Khera, A. V.; Lowther, C.; Gauthier, L. D.; Wang, H.; Watts, N. A.; Solomonson, M.; O'Donnell-Luria, A.; Baumann, A.; Munshi, R.; Walker, M.; Whelan, C. W.; Huang, Y.; Brookings, T.; Sharpe, T.; Stone, M. R.; Valkanas, E.; Fu, J.; Tiao, G.; Laricchia, K. M.; Ruano-Rubio, V.; Stevens, C.; Gupta, N.; Cusick, C.; Margolin, L.; Genome Aggregation Database Production, Team; Genome Aggregation Database, Consortium; Taylor, K. D.; Lin, H. J.; Rich, S. S.; Post, W. S.; Chen, Y. I.; Rotter, J. I.; Nusbaum, C.; Philippakis, A.; Lander, E.; Gabriel, S.; Neale, B. M.; Kathiresan, S.; Daly, M. J.; Banks, E.; MacArthur, D. G.; Talkowski, M. E.

NATURE 581 (7809) :444-451, 2020 10.1038/s41586-020-2287-8

HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer

Brunton, H.; Caligiuri, G.; Cunningham, R.; Upstill-Goddard, R.; Bailey, U. M.; Garner, I. M.; Nourse, C.; Dreyer, S.; Jones, M.; Moran-Jones, K.; Wright, D. W.; Paulus-Hock, V.; Nixon, C.; Thomson, G.; Jamieson, N. B.; McGregor, G. A.; Evers, L.; McKay, C. J.; Gulati, A.; Brough, R.; Bajrami, I.; Pettitt, S. J.; Dziubinski, M. L.; Barry, S. T.; Grutzmann, R.; Brown, R.; Curry, E.; Glasgow Precision Oncology, Laboratory; Australian Pancreatic Cancer Genome, Initiative; Pajic, M.; Musgrove, E. A.; Petersen, G. M.; Shanks, E.; Ashworth, A.; Crawford, H. C.; Simeone, D. M.; Froeling, F. E. M.; Lord, C. J.; Mukhopadhyay, D.; Pilarsky, C.; Grimmond, S. E.; Morton, J. P.; Sansom, O. J.; Chang, D. K.; Bailey, P. J.; Biankin, A. V.

Cell Reports 31 (6) :107625, 2020 10.1016/j.celrep.2020.107625

The Magnetic Resonance Imaging in Active Surveillance (MRIAS) Trial: Use of Baseline Multiparametric Magnetic Resonance Imaging and Saturation Biopsy to Reduce the Frequency of Surveillance Prostate Biopsies

Amin, A.; Scheltema, M. J.; Shnier, R.; Blazevski, A.; Moses, D.; Cusick, T.; Siriwardena, A.; Yuen, B.; van Leeuwen, P. J.; Haynes, A. M.; Matthews, J.; Brenner, P.; O'Neill, G.; Yuen, C.; Delprado, W.; Stricker, P.; Thompson, J.

JOURNAL OF UROLOGY 203 (5) :910-917, 2020 10.1097/JU.0000000000000693

Integrative analyses of the RNA modification machinery reveal tissue- and cancer-specific signatures

Begik, O.; Lucas, M. C.; Liu, H.; Ramirez, J. M.; Mattick, J. S.; Novoa, E. M.

GENOME BIOLOGY 21 (1) :97, 2020 10.1186/s13059-020-02009-z

Cancer patients' experiences with immune checkpoint modulators: A qualitative study

Ala-Leppilampi, K.; Baker, N. A.; McKillop, C.; Butler, M. O.; Siu, L. L.; Spreafico, A.; Abdul Razak, A. R.; Joshua, A. M.; Hogg, D.; Bedard, P. L.; Leighl, N.; Oza, A. M.; Parsons, J. A.; Hansen, A. R.

Cancer Medicine 9 (9) :3015-3022, 2020 10.1002/cam4.2940

SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes

Sungnak, W.; Huang, N.; Becavin, C.; Berg, M.; Queen, R.; Litvinukova, M.; Talavera-Lopez, C.; Maatz, H.; Reichart, D.; Sampaziotis, F.; Worlock, K. B.; Yoshida, M.; Barnes, J. L.; Network, H. C. A. Lung Biological Network

NATURE MEDICINE 26 (5) :681-687, 2020 10.1038/s41591-020-0868-6

Risperidone stimulates food intake and induces body weight gain via the hypothalamic arcuate nucleus 5-HT2c receptor-NPY pathway

Wan, X. Q.; Zeng, F.; Huang, X. F.; Yang, H. Q.; Wang, L.; Shi, Y. C.; Zhang, Z. H.; Lin, S.

CNS Neuroscience & Therapeutics 26 (5) :558-566, 2020 10.1111/cns.13281

Mitochondrial uncoupler BAM15 reverses diet-induced obesity and insulin resistance in mice

Alexopoulos, S. J.; Chen, S. Y.; Brandon, A. E.; Salamoun, J. M.; Byrne, F. L.; Garcia, C. J.; Beretta, M.; Olzomer, E. M.; Shah, D. P.; Philp, A. M.; Hargett, S. R.; Lawrence, R. T.; Lee, B.; Sligar, J.; Carrive, P.; Tucker, S. P.; Philp, A.; Lackner, C.; Turner, N.; Cooney, G. J.; Santos, W. L.; Hoehn, K. L.

Nature Communications 11 (1) :2397, 2020 10.1038/s41467-020-16298-2

Assessment of Periprostatic and Subcutaneous Adipose Tissue Lipolysis and Adipocyte Size from Men with Localized Prostate Cancer

Miladinovic, D.; Cusick, T.; Mahon, K. L.; Haynes, A. M.; Cortie, C. H.; Meyer, B. J.; Stricker, P. D.; Wittert, G. A.; Butler, L. M.; Horvath, L. G.; Hoy, A. J.

Cancers 12 (6) :1385, 2020 10.3390/cancers12061385

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Whiffin, N.; Karczewski, K. J.; Zhang, X.; Chothani, S.; Smith, M. J.; Evans, D. G.; Roberts, A. M.; Quaife, N. M.; Schafer, S.; Rackham, O.; Alfoldi, J.; O'Donnell-Luria, A. H.; Francioli, L. C.; Genome Aggregation Database Production, Team; Genome Aggregation Database, Consortium; Cook, S. A.; Barton, P. J. R.; MacArthur, D. G.; Ware, J. S.

Nature Communications 11 (1) :2523, 2020 10.1038/s41467-019-10717-9

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Wang, Q.; Pierce-Hoffman, E.; Cummings, B. B.; Alfoldi, J.; Francioli, L. C.; Gauthier, L. D.; Hill, A. J.; O'Donnell-Luria, A. H.; Genome Aggregation Database Production, Team; Genome Aggregation Database, Consortium; Karczewski, K. J.; MacArthur, D. G.

Nature Communications 11 (1) :2539, 2020 10.1038/s41467-019-12438-5