Publications

6429 items matching your search terms.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amali; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Guillen Sacoto, Maria J.; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J.

HUMAN MUTATION 41 (2) :449-464, 2020 10.1002/humu.23936

Integrated pathways that control stress and energy homeostasis

Herzog, H.

Nature Reviews Endocrinology 16 (2) :75-76, 2020 10.1038/s41574-019-0298-z

Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.

Tangye, S.G.; Latour, S.

BLOOD 135 (9) :644-655, 2020 https://doi.org/10.1182/blood.2019000928

Exploring and analysing single cell multi-omics data with VDJView

Samir, J.; Rizzetto, S.; Gupta, M.; Luciani, F.

BMC Medical Genomics 13 (1) :29, 2020 10.1186/s12920-020-0696-z

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

Yanes, T.; Young, M. A.; Meiser, B.; James, P.

BREAST CANCER RESEARCH 22 (1) :21, 2020 10.1186/s13058-020-01260-3

Systematic functional identification of cancer multi-drug resistance genes

Lau MT., Ghazanfar S., Parkin A., Chou A., Rouaen JR., Littleboy JB., Nessem D., Khuong TM., Nevoltris D., Schofield P., Langley D., Christ D., Yang J., Pajic M., Neely GG.

GENOME BIOLOGY 21 (1) :27, 2020 https://doi.org/10.1186/s13059-020-1940-8

Aortic Calcification and Arterial Stiffness Burden in a Chronic Kidney Disease Cohort with High Cardiovascular Risk: Baseline Characteristics of the Impact of Phosphate Reduction On Vascular End-Points in Chronic Kidney Disease Trial

Lioufas, N. M.; Pedagogos, E.; Hawley, C. M.; Pascoe, E. M.; Elder, G. J.; Badve, S. V.; Valks, A.; Toussaint, N. D.; on behalf of the, Improve- C. K. D. Investigators

AMERICAN JOURNAL OF NEPHROLOGY 51 (3) :201-215, 2020 10.1159/000505717

Lymphoma Driver Mutations in the Pathogenic Evolution of an Iconic Human Autoantibody

Singh, M.; Jackson, K. J. L.; Wang, J. J.; Schofield, P.; Field, M. A.; Koppstein, D.; Peters, T. J.; Burnett, D. L.; Rizzetto, S.; Nevoltris, D.; Masle-Farquhar, E.; Faulks, M. L.; Russell, A.; Gokal, D.; Hanioka, A.; Horikawa, K.; Colella, A. D.; Chataway, T. K.; Blackburn, J.; Mercer, T. R.; Langley, D. B.; Goodall, D. M.; Jefferis, R.; Gangadharan Komala, M.; Kelleher, A. D.; Suan, D.; Rischmueller, M.; Christ, D.; Brink, R.; Luciani, F.; Gordon, T. P.; Goodnow, C. C.; Reed, J. H.

CELL 180 (5) :878-894 e19, 2020 10.1016/j.cell.2020.01.029

Fluids and their mechanics in tumour transit: shaping metastasis

Follain, G.; Herrmann, D.; Harlepp, S.; Hyenne, V.; Osmani, N.; Warren, S. C.; Timpson, P.; Goetz, J. G.

NATURE REVIEWS CANCER 20 (2) :107-124, 2020 10.1038/s41568-019-0221-x

Should the cardio-protective properties of sodium-glucose cotransporter 2 inhibitors dictate therapeutic decision-making in patients with type 2 diabetes

Milder, T. Y.; Day, R. O.; Stocker, S. L.; Greenfield, J. R.

INTERNAL MEDICINE JOURNAL 50 (5) :645-646, 2020 10.1111/imj.14819

Activated PI3Kdelta breaches multiple B cell tolerance checkpoints and causes autoantibody production

Lau, A.; Avery, D. T.; Jackson, K.; Lenthall, H.; Volpi, S.; Brigden, H.; Russell, A. J.; Bier, J.; Reed, J. H.; Smart, J. M.; Cole, T.; Choo, S.; Gray, P. E.; Berglund, L. J.; Hsu, P.; Wong, M.; O'Sullivan, M.; Boztug, K.; Meyts, I.; Uzel, G.; Notarangelo, L. D.; Brink, R.; Goodnow, C. C.; Tangye, S. G.; Deenick, E. K.

JOURNAL OF EXPERIMENTAL MEDICINE 217 (2) :e20191336, 2020 10.1084/jem.20191336

Who should access germline genome sequencing? A mixed methods study of patient views

Best, M. C.; Butow, P.; Jacobs, C.; Savard, J.; Biesecker, B.; Ballinger, M. L.; Bartley, N.; Davies, G.; Napier, C. E.; Smit, A. K.; Thomas, D. M.; Newson, A. J.; Members of the PiGeOn Project, .

CLINICAL GENETICS 97 (2) :329-337, 2020 10.1111/cge.13664

Pan-cancer analysis of whole genomes

ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium.

NATURE 578 (7793) :82-93, 2020 10.1038/s41586-020-1969-6

Aberrant B cell repertoire selection associated with HIV neutralizing antibody breadth

Roskin, K. M.; Jackson, K. J. L.; Lee, J. Y.; Hoh, R. A.; Joshi, S. A.; Hwang, K. K.; Bonsignori, M.; Pedroza-Pacheco, I.; Liao, H. X.; Moody, M. A.; Fire, A. Z.; Borrow, P.; Haynes, B. F.; Boyd, S. D.

NATURE IMMUNOLOGY 21 (2) :199-209, 2020 10.1038/s41590-019-0581-0

Association between vertebral fractures and coronary artery calcification in current and former smokers in the ECLIPSE cohort

van Dort, M. J.; Driessen, J. H. M.; Geusens, P.; Romme, Eapm; Smeenk, Fwjm; Rahel, B. M.; Eisman, J. A.; Wouters, E. F. M.; van den Bergh, J. P. W.

OSTEOPOROSIS INTERNATIONAL 31 (2) :297-305, 2020 10.1007/s00198-019-05218-w

Differential methylation pattern of xenobiotic metabolizing genes and susceptibility to Balkan endemic nephropathy, in a cohort of Romanian patients

Ivan, A.; Lam, D.; Cristea, M. I.; Telea, A.; Gruia, A. T.; Oprean, C.; Margineanu, F.; Bojin, F. M.; Saffery, R.; Paunescu, V.; Tatu, C. A.

JOURNAL OF NEPHROLOGY 33 (1) :91-100, 2020 10.1007/s40620-019-00621-2