Publications

6429 items matching your search terms.

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Muir, A. M.; Gardner, J. F.; van Jaarsveld, R. H.; de Lange, I. M.; van der Smagt, J. J.; Wilson, G. N.; Dubbs, H.; Goldberg, E. M.; Zitano, L.; Bupp, C.; Martinez, J.; Srour, M.; Accogli, A.; Alhakeem, A.; Meltzer, M.; Gropman, A.; Brewer, C.; Caswell, R. C.; Montgomery, T.; McKenna, C.; McKee, S.; Powell, C.; Vasudevan, P. C.; Brady, A. F.; Joss, S.; Tysoe, C.; Noh, G.; Tarnopolsky, M.; Brady, L.; Zafar, M.; Schrier Vergano, S. A.; Murray, B.; Sawyer, L.; Hainline, B. E.; Sapp, K.; DeMarzo, D.; Huismann, D. J.; Wentzensen, I. M.; Schnur, R. E.; Monaghan, K. G.; Juusola, J.; Rhodes, L.; Dobyns, W. B.; Lecoquierre, F.; Goldenberg, A.; Polster, T.; Axer-Schaefer, S.; Platzer, K.; Klockner, C.; Hoffman, T. L.; MacArthur, D. G.; O'Leary, M. C.; VanNoy, G. E.; England, E.; Varghese, V. C.; Mefford, H. C.

GENETICS IN MEDICINE 23 (5) :881-887, 2021 10.1038/s41436-020-01076-8

Antigen-driven EGR2 expression is required for exhausted CD8(+) T cell stability and maintenance

Wagle, M. V.; Vervoort, S. J.; Kelly, M. J.; Van Der Byl, W.; Peters, T. J.; Martin, B. P.; Martelotto, L. G.; Nussing, S.; Ramsbottom, K. M.; Torpy, J. R.; Knight, D.; Reading, S.; Thia, K.; Miosge, L. A.; Howard, D. R.; Gloury, R.; Gabriel, S. S.; Utzschneider, D. T.; Oliaro, J.; Powell, J. D.; Luciani, F.; Trapani, J. A.; Johnstone, R. W.; Kallies, A.; Goodnow, C. C.; Parish, I. A.

Nature Communications 12 (1) :2782, 2021 10.1038/s41467-021-23044-9

Cryopreservation of human cancers conserves tumour heterogeneity for single-cell multi-omics analysis

Wu, S. Z.; Roden, D. L.; Al-Eryani, G.; Bartonicek, N.; Harvey, K.; Cazet, A. S.; Chan, C. L.; Junankar, S.; Hui, M. N.; Millar, E. A.; Beretov, J.; Horvath, L.; Joshua, A. M.; Stricker, P.; Wilmott, J. S.; Quek, C.; Long, G. V.; Scolyer, R. A.; Yeung, B. Z.; Segara, D.; Mak, C.; Warrier, S.; Powell, J. E.; O'Toole, S.; Lim, E.; Swarbrick, A.

Genome Medicine 13 (1) :81, 2021 10.1186/s13073-021-00885-z

Prevalent Nonmotor Symptoms Associated With Huntington Disease: Challenging to Interpret and With Early Impact on Function

McCusker, E. A.; Loy, C. T.

NEUROLOGY 96 (19) :875-876, 2021 10.1212/WNL.0000000000011888

Relationship between PD-L1 expression and outcome in EGFR-mutant lung cancer patients treated with EGFR tyrosine kinase inhibitors

Liu, J.; Itchins, M.; Nagrial, A.; Cooper, W. A.; De Silva, M.; Barnet, M.; Varikatt, W.; Sivasubramaniam, V.; Davis, A.; Gill, A. J.; Blinman, P.; Lee, K.; Hui, R.; Gao, B.; Pavlakis, N.; Clarke, S.; Lee, J.; Boyer, M.; Kao, S.

LUNG CANCER 155 :28-33, 2021 10.1016/j.lungcan.2021.03.004

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

Mallawaarachchi, A. C.; Lundie, B.; Hort, Y.; Schonrock, N.; Senum, S. R.; Gayevskiy, V.; Minoche, A. E.; Hollway, G.; Ohnesorg, T.; Hinchcliffe, M.; Patel, C.; Tchan, M.; Mallett, A.; Dinger, M. E.; Rangan, G.; Cowley, M. J.; Harris, P. C.; Burnett, L.; Shine, J.; Furlong, T. J.

EUROPEAN JOURNAL OF HUMAN GENETICS 29 (5) :760-770, 2021 10.1038/s41431-020-00796-4

Transcription factor immunohistochemistry in the diagnosis of pituitary tumours

Lenders, N. F.; Wilkinson, A. C.; Wong, S. J.; Shein, T. T.; Harvey, R. J.; Inder, W. J.; Earls, P. E.; McCormack, A. I.

EUROPEAN JOURNAL OF ENDOCRINOLOGY 184 (6) :891-901, 2021 10.1530/EJE-20-1273

Hippocampal Glycerol-3-Phosphate Acyltransferases 4 and BDNF in the Progress of Obesity-Induced Depression

Huang, Y. Q.; Wang, Y.; Hu, K.; Lin, S.; Lin, X. H.

Frontiers in Endocrinology 12 :667773, 2021 10.3389/fendo.2021.667773

Chromatin immunoprecipitation of transcription factors and histone modifications in Comma-Dbeta mammary epithelial cells

Holliday, H.; Khoury, A.; Swarbrick, A.

STAR Protocols 2 (2) :100514, 2021 10.1016/j.xpro.2021.100514

Poor mobilization of autologous CD34(+) peripheral blood stem cells in haematology patients undergoing autologous stem cell transplantation is associated with the presence of variants in genes implicated in clonal haematopoiesis of indeterminant potential

Gifford, G.; Hesson, L.; Wong, J. W. H.; Carroll, A.; Gabrielli, S.; Bai, L.; Xia, W.; Stevenson, W.; Greenwood, M.

BRITISH JOURNAL OF HAEMATOLOGY 193 (4) :841-844, 2021 10.1111/bjh.17316

Midkine-a Regulates the Formation of a Fibrotic Scar During Zebrafish Heart Regeneration

Grivas, D.; Gonzalez-Rajal, A.; de la Pompa, J. L.

Frontiers in Cell and Developmental Biology 9 :669439, 2021 10.3389/fcell.2021.669439

A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma

Gonzalez Rajal, A.; Marzec, K. A.; McCloy, R. A.; Nobis, M.; Chin, V.; Hastings, J. F.; Lai, K.; Kennerson, M.; Hughes, W. E.; Vaghjiani, V.; Timpson, P.; Cain, J. E.; Watkins, D. N.; Croucher, D. R.; Burgess, A.

eLife 10 2021 10.7554/eLife.65234

MECHANISMS IN ENDOCRINOLOGY: Paracrine and endocrine control of the growth hormone axis by estrogen

Birzniece, V.; Ho, K. K. Y.

EUROPEAN JOURNAL OF ENDOCRINOLOGY 184 (6) :R269-R278, 2021 10.1530/EJE-21-0155

Selection of a novel AAV2/TNFAIP3 vector for local suppression of islet xenograft inflammation

Zammit, N. W.; Seeberger, K. L.; Zamerli, J.; Walters, S. N.; Lisowski, L.; Korbutt, G. S.; Grey, S. T.

XENOTRANSPLANTATION 28 (3) :e12669, 2021 10.1111/xen.12669

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Song, H.; Dicks, E. M.; Tyrer, J.; Intermaggio, M.; Chenevix-Trench, G.; Bowtell, D. D.; Traficante, N.; Group, A.; Brenton, J.; Goranova, T.; Hosking, K.; Piskorz, A.; van Oudenhove, E.; Doherty, J.; Harris, H. R.; Rossing, M. A.; Duerst, M.; Dork, T.; Bogdanova, N. V.; Modugno, F.; Moysich, K.; Odunsi, K.; Ness, R.; Karlan, B. Y.; Lester, J.; Jensen, A.; Kruger Kjaer, S.; Hogdall, E.; Campbell, I. G.; Lazaro, C.; Pujara, M. A.; Cunningham, J.; Vierkant, R.; Winham, S. J.; Hildebrandt, M.; Huff, C.; Li, D.; Wu, X.; Yu, Y.; Permuth, J. B.; Levine, D. A.; Schildkraut, J. M.; Riggan, M. J.; Berchuck, A.; Webb, P. M.; Group, O. S.; Cybulski, C.; Gronwald, J.; Jakubowska, A.; Lubinski, J.; Alsop, J.; Harrington, P.; Chan, I.; Menon, U.; Pearce, C. L.; Wu, A. H.; de Fazio, A.; Kennedy, C. J.; Goode, E.; Ramus, S.; Gayther, S.; Pharoah, P.

JOURNAL OF MEDICAL GENETICS 58 (5) :305-313, 2021 10.1136/jmedgenet-2019-106739

Family communication about genomic sequencing: A qualitative study with cancer patients and relatives

Smit, A. K.; Bartley, N.; Best, M. C.; Napier, C. E.; Butow, P.; Newson, A. J.; Tucker, K.; Ballinger, M. L.; Thomas, D. M.; Jacobs, C.; Meiser, B.; Goldstein, D.; Savard, J.; Juraskova, I.; PiGeOn authorship, group

PATIENT EDUCATION AND COUNSELING 104 (5) :944-952, 2021 10.1016/j.pec.2020.10.022