Publications

6429 items matching your search terms.

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

Pillay, B. A.; Fusaro, M.; Gray, P. E.; Statham, A. L.; Burnett, L.; Bezrodnik, L.; Kane, A.; Tong, W.; Abdo, C.; Winter, S.; Chevalier, S.; Levy, R.; Masson, C.; Schmitt, Y.; Bole, C.; Malphettes, M.; Macintyre, E.; De Villartay, J. P.; Ziegler, J. B.; Smart, J. M.; Peake, J.; Aghamohammadi, A.; Hammarstrom, L.; Abolhassani, H.; Picard, C.; Fischer, A.; Latour, S.; Neven, B.; Tangye, S. G.; Ma, C. S.

Journal of Genetic Counseling 131 (3) 2021 10.1172/JCI142434

Respiratory viral co-infections among SARS-CoV-2 cases confirmed by virome capture sequencing

Kim, K. W.; Deveson, I. W.; Pang, C. N. I.; Yeang, M.; Naing, Z.; Adikari, T.; Hammond, J. M.; Stevanovski, I.; Beukers, A. G.; Verich, A.; Yin, S.; McFarlane, D.; Wilkins, M. R.; Stelzer-Braid, S.; Bull, R. A.; Craig, M. E.; van Hal, S. J.; Rawlinson, W. D.

Scientific Reports 11 (1) :3934, 2021 10.1038/s41598-021-83642-x

Molecular Biomarkers for Contemporary Therapies in Hormone Receptor-Positive Breast Cancer

Freelander, A.; Brown, L. J.; Parker, A.; Segara, D.; Portman, N.; Lau, B.; Lim, E.

Genes 12 (2) 2021 10.3390/genes12020285

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia

Saputra, L.; Kumar, K. R.

Current Neurology and Neuroscience Reports 21 (4) :15, 2021 10.1007/s11910-021-01099-x

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Coignard, Juliette; Lush, Michael; Beesley, Jonathan; O'Mara, Tracy A.; Dennis, Joe; Tyrer, Jonathan P.; Barnes, Daniel R.; McGuffog, Lesley; Leslie, Goska; Bolla, Manjeet K.; Adank, Muriel A.; Agata, Simona; Ahearn, Thomas; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K.; Augustinsson, Annelie; Azzollini, Jacopo; Barrowdale, Daniel; Baynes, Caroline; Becher, Heiko; Bermisheva, Marina; Bernstein, Leslie; Bialkowska, Katarzyna; Blomqvist, Carl; Bojesen, Stig E.; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campa, Daniele; Carter, Brian D.; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Chung, Wendy K.; Claes, Kathleen B. M.; Clarke, Christine L.; Bertrand, Ophelie; Caputo, Sandrine; Dupre, Anais; Le Mentec, Marine; Belotti, Muriel; Birot, Anne-Marie; Buecher, Bruno; Fourme, Emmanuelle; Gauthier-Villars, Marion; Golmard, Lisa; Houdayer, Claude; Moncoutier, Virginie; de Pauw, Antoine; Saule, Claire; Sinilnikova, Olga; Mazoyer, Sylvie; Damiola, Francesca; Barjhoux, Laure; Verny-Pierre, Carole; Leone, Melanie; Boutry-Kryza, Nadia; Calender, Alain; Giraud, Sophie; Caron, Olivier; Guillaud-Bataille, Marine; Bressac-de-Paillerets, Brigitte; Bignon, Yves-Jean; Uhrhammer, Nancy; Lasset, Christine; Bonadona, Valerie; Berthet, Pascaline; Vaur, Dominique; Castera, Laurent; Noguchi, Tetsuro; Popovici, Cornel; Sobol, Hagay; Bourdon, Violaine; Noguchi, Tetsuro; Remenieras, Audrey; Nogues, Catherine; Coupier, Isabelle; Pujol, Pascal; Dumont, Aurelie; Revillion, Francoise; Adenis, Claude; Muller, Daniele; Barouk-Simonet, Emmanuelle; Bonnet, Francoise; Bubien, Virginie; Sevenet, Nicolas; Longy, Michel; Toulas, Christine; Guimbaud, Rosine; Gladieff, Laurence; Feillel, Viviane; Leroux, Dominique; Dreyfus, Helene; Rebischung, Christine; Peysselon, Magalie; Coron, Fanny; Faivre, Laurence; Baurand, Amandine; Jacquot, Caroline; Bertolone, Geoffrey; Lizard, Sarab; Prieur, Fabienne; Lebrun, Marine; Kientz, Caroline; Ferrer, Sandra Fert; Mari, Veronique; Venat-Bouvet, Laurence; Delnatte, Capucine; Bezieau, Stephane; Mortemousque, Isabelle; Coulet, Florence; Colas, Chrystelle; Soubrier, Florent; Warcoin, Mathilde; Sokolowska, Johanna; Bronner, Myriam; Collonge-Rame, Marie-Agnes; Damette, Alexandre; Gesta, Paul; Lallaoui, Hakima; Chiesa, Jean; Molina-Gomes, Denise; Ingster, Olivier; Gregory, Helen; Miedzybrodzka, Zosia; Morrison, Patrick J.; Ong, Kai-ren; Donaldson, Alan; Rogers, Mark T.; Kennedy, M. John; Porteous, Mary E.; Brewer, Carole; Davidson, Rosemarie; Izatt, Louise; Brady, Angela; Barwell, Julian; Adlard, Julian; Foo, Claire; Lalloo, Fiona; Side, Lucy E.; Eason, Jacqueline; Henderson, Alex; Walker, Lisa; Eeles, Rosalind A.; Cook, Jackie; Snape, Katie; Eccles, Diana; Murray, Alex; McCann, Emma; Collee, J. Margriet; Conroy, Don M.; Czene, Kamila; Daly, Mary B.; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Dork, Thilo; dos-Santos-Silva, Isabel; Dunning, Alison M.; Dwek, Miriam; Eccles, Diana M.; Eliassen, A. Heather; Engel, Christoph; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Flyger, Henrik; Fostira, Florentia; Friedman, Eitan; Fritschi, Lin; Frost, Debra; Gago-Dominguez, Manuela; Gapstur, Susan M.; Garber, Judy; Garcia-Barberan, Vanesa; Garcia-Closas, Montserrat; Garcia-Saenz, Jose A.; Gaudet, Mia M.; Gayther, Simon A.; Gehrig, Andrea; Georgoulias, Vassilios; Giles, Graham G.; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Greene, Mark H.; Guenel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Hakansson, Niclas; Hall, Per; Hamann, Ute; Harrington, Patricia A.; Hart, Steven N.; He, Wei; Hogervorst, Frans B. L.; Hollestelle, Antoinette; Hopper, John L.; Horcasitas, Darling J.; Hulick, Peter J.; Hunter, David J.; Imyanitov, Evgeny N.; Fox, Stephen; Campbell, Ian; Spurdle, Amanda; Webb, Penny; de Fazio, Anna; Tassell, Margaret; Kirk, Judy; Lindeman, Geoff; Price, Melanie; Southey, Melissa; Milne, Roger; Deb, Sid; Bowtell, David; van der Hout, Annemieke H.; van den Ouweland, Ans M. W.; Mensenkamp, Arjen R.; van Deurzen, Carolien H. M.; Kets, Carolien M.; Seynaeve, Caroline; van Asperen, Christi J.; Aalfs, Cora M.; Gomez Garcia, Encarna B.; van Leeuwen, Flora E.; de Bock, G. H.; Meijers-Heijboer, Hanne E. J.; Obdeijn, Inge M.; Collee, J. Margriet; Gille, J. J. P.; Oosterwijk, Jan C.; Wijnen, Juul T.; van der Kolk, Lizet E.; Hooning, Maartje J.; Ausems, Margreet G. E. M.; Mourits, Marian J. E.; Blok, Marinus J.; Rookus, Matti A.; Adank, Muriel A.; van der Luijt, Rob B.; van Cronenburg, T. C. T. E. F.; van der Pol, Carmen C.; Russell, Nicola S.; Siesling, Sabine; Overbeek, Lucy; Wijnands, R.; de Lange, Judith L.; Clarke, Christine; Graham, Dinny; Sachchithananthan, Mythily; Marsh, Deborah; Scott, Rodney; Baxter, Robert; Yip, Desmond; Carpenter, Jane; Davis, Alison; Pathmanathan, Nirmala; Simpson, Peter; Jager, Agnes; Jakubowska, Anna; James, Paul A.; Jensen, Uffe Birk; John, Esther M.; Jones, Michael E.; Kaaks, Rudolf; Kapoor, Pooja Middha; Karlan, Beth Y.; Keeman, Renske; Khusnutdinova, Elza; Kiiski, Johanna I.; Ko, Yon-Dschun; Kosma, Veli-Matti; Kraft, Peter; Kurian, Allison W.; Laitman, Yael; Lambrechts, Diether; Le Marchand, Loic; Lester, Jenny; Lesueur, Fabienne; Lindstrom, Tricia; Lopez-Fernandez, Adria; Loud, Jennifer T.; Collaborators, Gemo Study; Collaborators, Embrace; Investigators, K. ConFab; Investigators, Hebon; Investigators, Abctb

Nature Communications 12 (1) :1078, 2021 10.1038/s41467-020-20496-3

Ongoing partial response at 6 months to olaparib for metastatic melanoma with somatic PALB2 mutation after failure of immunotherapy: a case report

Lau, B.; Menzies, A. M.; Joshua, A. M.

Annals Of Oncology 32 (2) :280-282, 2021 10.1016/j.annonc.2020.11.006

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Meyts, I.; Bucciol, G.; Quinti, I.; Neven, B.; Fischer, A.; Seoane, E.; Lopez-Granados, E.; Gianelli, C.; Robles-Marhuenda, A.; Jeandel, P. Y.; Paillard, C.; Sankaran, V. G.; Demirdag, Y. Y.; Lougaris, V.; Aiuti, A.; Plebani, A.; Milito, C.; Dalm, V. A.; Guevara-Hoyer, K.; Sanchez-Ramon, S.; Bezrodnik, L.; Barzaghi, F.; Gonzalez-Granado, L. I.; Hayman, G. R.; Uzel, G.; Mendonca, L. O.; Agostini, C.; Spadaro, G.; Badolato, R.; Soresina, A.; Vermeulen, F.; Bosteels, C.; Lambrecht, B. N.; Keller, M.; Mustillo, P. J.; Abraham, R. S.; Gupta, S.; Ozen, A.; Karakoc-Aydiner, E.; Baris, S.; Freeman, A. F.; Yamazaki-Nakashimada, M.; Scheffler-Mendoza, S.; Espinosa-Padilla, S.; Gennery, A. R.; Jolles, S.; Espinosa, Y.; Poli, M. C.; Fieschi, C.; Hauck, F.; Cunningham-Rundles, C.; Mahlaoui, N.; Immunity, Iuis Committee of Inborn Errors of; Warnatz, K.; Sullivan, K. E.; Tangye, S. G.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 147 (2) :520-531, 2021 10.1016/j.jaci.2020.09.010

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Jayasinghe, K.; Quinlan, C.; Mallett, A. J.; Kerr, P. G.; McClaren, B.; Nisselle, A.; Mallawaarachchi, A.; Polkinghorne, K. R.; Patel, C.; Best, S.; Stark, Z.

Kidney International Reports 6 (2) :272-283, 2021 10.1016/j.ekir.2020.10.030

Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?

Ho, K.; Fleseriu, M.; Kaiser, U.; Salvatori, R.; Brue, T.; Lopes, M. B.; Kunz, P.; Molitch, M.; Camper, S. A.; Gadelha, M.; Syro, L. V.; Laws, E.; Reincke, M.; Nishioka, H.; Grossman, A.; Barkan, A.; Casanueva, F.; Wass, J.; Mamelak, A.; Katznelson, L.; van der Lely, A. J.; Radovick, S.; Bidlingmaier, M.; Boguszewski, M.; Bollerslev, J.; Hoffman, A. R.; Oyesiku, N.; Raverot, G.; Ben-Shlomo, A.; Fowkes, R.; Shimon, I.; Fukuoka, H.; Pereira, A. M.; Greenman, Y.; Heaney, A. P.; Gurnell, M.; Johannsson, G.; Osamura, R. Y.; Buchfelder, M.; Zatelli, M. C.; Korbonits, M.; Chanson, P.; Biermasz, N.; Clemmons, D. R.; Karavitaki, N.; Bronstein, M. D.; Trainer, P.; Melmed, S.

Journal of the Endocrine Society 5 (3) :bvaa205, 2021 10.1210/jendso/bvaa205

Breaking the cycle: Targeting of NDRG1 to inhibit bi-directional oncogenic cross-talk between pancreatic cancer and stroma

Geleta, B.; Park, K. C.; Jansson, P. J.; Sahni, S.; Maleki, S.; Xu, Z.; Murakami, T.; Pajic, M.; Apte, M. V.; Richardson, D. R.; Kovacevic, Z.

FASEB JOURNAL 35 (2) :e21347, 2021 10.1096/fj.202002279R

Epidemiological transition to mortality and refracture following an initial fracture

Ho-Le, T. P.; Tran, T. S.; Bliuc, D.; Pham, H. M.; Frost, S. A.; Center, J. R.; Eisman, J. A.; Nguyen, T. V.

eLife 10 :e61142, 2021 10.7554/eLife.61142

The androgen receptor is a tumor suppressor in estrogen receptor-positive breast cancer

Hickey, T. E.; Selth, L. A.; Chia, K. M.; Laven-Law, G.; Milioli, H. H.; Roden, D.; Jindal, S.; Hui, M.; Finlay-Schultz, J.; Ebrahimie, E.; Birrell, S. N.; Stelloo, S.; Iggo, R.; Alexandrou, S.; Caldon, C. E.; Abdel-Fatah, T. M.; Ellis, I. O.; Zwart, W.; Palmieri, C.; Sartorius, C. A.; Swarbrick, A.; Lim, E.; Carroll, J. S.; Tilley, W. D.

NATURE MEDICINE 27 (2) :310-320, 2021 10.1038/s41591-020-01168-7

COVID-19, varying genetic resistance to viral disease and immune tolerance checkpoints

Goodnow, C. C.

IMMUNOLOGY AND CELL BIOLOGY 99 (2) :177-191, 2021 10.1111/imcb.12419

Stereotactic ablative radiotherapy for early stage lung cancer and lung metastases in a New Zealand population

Geary, R. L.; Yasin, Nabh; Lin, F.; Whalley, D.; Thotathil, Z.; De Groot, C.

New Zealand Medical Journal 134 (1529) :45-56, 2021 N/A

Myeloma-Modified Adipocytes Exhibit Metabolic Dysfunction and a Senescence-Associated Secretory Phenotype

Fairfield, H.; Dudakovic, A.; Khatib, C. M.; Farrell, M.; Costa, S.; Falank, C.; Hinge, M.; Murphy, C. S.; DeMambro, V.; Pettitt, J. A.; Lary, C. W.; Driscoll, H. E.; McDonald, M. M.; Kassem, M.; Rosen, C.; Andersen, T. L.; van Wijnen, A. J.; Jafari, A.; Reagan, M. R.

CANCER RESEARCH 81 (3) :634-647, 2021 10.1158/0008-5472.CAN-20-1088

Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility

Wirasinha, R. C.; Davies, A. R.; Srivastava, M.; Sheridan, J. M.; Sng, X. Y. X.; Delmonte, O. M.; Dobbs, K.; Loh, K. L.; Miosge, L. A.; Lee, C. E.; Chand, R.; Chan, A.; Yap, J. Y.; Keller, M. D.; Chen, K.; Rossjohn, J.; La Gruta, N. L.; Vinuesa, C. G.; Reid, H. H.; Lionakis, M. S.; Notarangelo, L. D.; Gray, D. H. D.; Goodnow, C. C.; Cook, M. C.; Daley, S. R.

JOURNAL OF EXPERIMENTAL MEDICINE 218 (2) :e20200476, 2021 10.1084/jem.20200476