Publications

6434 items matching your search terms.

Is Dietary Vitamin A Associated with Myopia from Adolescence to Young Adulthood?

Ng, F. J.; Mackey, D. A.; O'Sullivan, T. A.; Oddy, W. H.; Yazar, S.

Translational Vision Science & Technology 9 (6) :29, 2020 10.1167/tvst.9.6.29

Evaluating drug targets through human loss-of-function genetic variation

Minikel, E. V.; Karczewski, K. J.; Martin, H. C.; Cummings, B. B.; Whiffin, N.; Rhodes, D.; Alfoldi, J.; Trembath, R. C.; van Heel, D. A.; Daly, M. J.; Genome Aggregation Database Production, Team; Genome Aggregation Database, Consortium; Schreiber, S. L.; MacArthur, D. G.

NATURE 581 (7809) :459-464, 2020 10.1038/s41586-020-2267-z

Re-engaging an inactive cohort of young adults: evaluating recruitment for the Kidskin Young Adult Myopia Study

Lingham, G.; Mackey, D. A.; Seed, N.; Ryan, L.; Milne, E.; Lucas, R. M.; Franchina, M.; Lee, S. S.; Yazar, S.

BMC Medical Research Methodology 20 (1) :127, 2020 10.1186/s12874-020-00996-y

Optic Disc Measures in Obstructive Sleep Apnea: A Community-based Study of Middle-aged and Older Adults

Lee, S. S.; Sanfilippo, P. G.; Hunter, M.; Yazar, S.; James, A.; Mackey, D. A.

JOURNAL OF GLAUCOMA 29 (5) :337-343, 2020 10.1097/IJG.0000000000001485

MANAGEMENT OF ENDOCRINE DISEASE: Does gender matter in the management of acromegaly?

Lenders, N. F.; McCormack, A. I.; Ho, K. K. Y.

EUROPEAN JOURNAL OF ENDOCRINOLOGY 182 (5) :R67-R82, 2020 10.1530/EJE-19-1023

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