Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Tudini, Emma; Andrews, James; Lawrence, David M; King-Smith, Sarah L; Baker, Naomi; Baxter, Leanne; Beilby, John; Bennetts, Bruce; Beshay, Victoria; Black, Michael; Boughtwood, Tiffany F; Brion, Kristian; Cheong, Pak Leng; Christie, Michael; Christodoulou, John; Chong, Belinda; Cox, Kathy; Davis, Mark R; Dejong, Lucas; Dinger, Marcel E; Doig, Kenneth D; Douglas, Evelyn; Dubowsky, Andrew; Ellul, Melissa; Fellowes, Andrew; Fisk, Katrina; Fortuno, Cristina; Friend, Kathryn; Gallagher, Renee L; Gao, Song; Hackett, Emma; Hadler, Johanna; Hipwell, Michael; Ho, Gladys; Hollway, Georgina; Hooper, Amanda J; Kassahn, Karin S; Krishnaraj, Rahul; Lau, Chiyan; Le, Huong; San Leong, Huei; Lundie, Ben; Lunke, Sebastian; Marty, Anthony; McPhillips, Mary; Nguyen, Lan T; Nones, Katia; Palmer, Kristen; Pearson, John V; Quinn, Michael C J.

Am J Hum Genet ; 109(11): 1960-1973, 2022 11 03.

Artículo en Inglés | MEDLINE | ID: mdl-36332611

2.

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.

Davidson, Aimee L; Kondrashova, Olga; Leonard, Conrad; Wood, Scott; Tudini, Emma; Hollway, Georgina E; Pearson, John V; Newell, Felicity; Spurdle, Amanda B; Waddell, Nicola.

Hum Mutat ; 43(12): 2054-2062, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36095262

3.

Early cost-utility analysis of genetically guided therapy for patients with drug-resistant epilepsy.

Gordon, Louisa G; Elliott, Thomas M; Bennett, Carmen; Hollway, Georgina; Waddell, Nicola; Vadlamudi, Lata.

Epilepsia ; 63(12): 3111-3121, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36082520

4.

Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model.

Davidson, Aimee L; Leonard, Conrad; Koufariotis, Lambros T; Parsons, Michael T; Hollway, Georgina E; Pearson, John V; Newell, Felicity; Waddell, Nicola; Spurdle, Amanda B.

Hum Mutat ; 42(5): 530-536, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33600021

5.

Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.

Yap, Jin Yan; Moens, Leen; Lin, Ming-Wei; Kane, Alisa; Kelleher, Anthony; Toong, Catherine; Wu, Kathy H C; Sewell, William A; Phan, Tri Giang; Hollway, Georgina E; Enthoven, Karen; Gray, Paul E; Casas-Martin, Jose; Wouters, Carine; De Somer, Lien; Hershfield, Michael; Bucciol, Giorgia; Delafontaine, Selket; Ma, Cindy S; Tangye, Stuart G; Meyts, Isabelle.

J Clin Immunol ; 41(8): 1915-1935, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34657246

6.

Haematopoietic stem cell induction by somite-derived endothelial cells controlled by meox1.

Nguyen, Phong Dang; Hollway, Georgina Elizabeth; Sonntag, Carmen; Miles, Lee Barry; Hall, Thomas Edward; Berger, Silke; Fernandez, Kristine Joy; Gurevich, David Baruch; Cole, Nicholas James; Alaei, Sara; Ramialison, Mirana; Sutherland, Robert Lyndsay; Polo, Jose Maria; Lieschke, Graham John; Currie, Peter David.

Nature ; 512(7514): 314-8, 2014 Aug 21.

Artículo en Inglés | MEDLINE | ID: mdl-25119043

7.

The Queensland IMplementation of PRecision Oncology in brEast cancer (Q-IMPROvE) pilot study.

McCart Reed, Amy E; Hollway, Georgina; Lakhani, Sunil.

Med J Aust ; 218(8): 374-375, 2023 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-36958289

8.

Scube activity is necessary for Hedgehog signal transduction in vivo.

Johnson, Jacque-Lynne F A; Hall, Thomas E; Dyson, Jennifer M; Sonntag, Carmen; Ayers, Katie; Berger, Silke; Gautier, Philippe; Mitchell, Christina; Hollway, Georgina E; Currie, Peter D.

Dev Biol ; 368(2): 193-202, 2012 Aug 15.

Artículo en Inglés | MEDLINE | ID: mdl-22609552

9.

Stac3 is required for myotube formation and myogenic differentiation in vertebrate skeletal muscle.

Bower, Neil I; de la Serrana, Daniel Garcia; Cole, Nicholas J; Hollway, Georgina E; Lee, Hung-Tai; Assinder, Stephen; Johnston, Ian A.

J Biol Chem ; 287(52): 43936-49, 2012 Dec 21.

Artículo en Inglés | MEDLINE | ID: mdl-23076145

10.

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.

Yanes, Tatiane; Sullivan, Anna; Barbaro, Pasquale; Brion, Kristian; Hollway, Georgina; Peake, Jane; McNaughton, Peter.

Eur J Hum Genet ; 31(10): 1125-1132, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-36864115

11.

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Davidson, Aimee L; Dressel, Uwe; Norris, Sarah; Canson, Daffodil M; Glubb, Dylan M; Fortuno, Cristina; Hollway, Georgina E; Parsons, Michael T; Vidgen, Miranda E; Holmes, Oliver; Koufariotis, Lambros T; Lakis, Vanessa; Leonard, Conrad; Wood, Scott; Xu, Qinying; McCart Reed, Amy E; Pickett, Hilda A; Al-Shinnag, Mohammad K; Austin, Rachel L; Burke, Jo; Cops, Elisa J; Nichols, Cassandra B; Goodwin, Annabel; Harris, Marion T; Higgins, Megan J; Ip, Emilia L; Kiraly-Borri, Catherine; Lau, Chiyan; Mansour, Julia L; Millward, Michael W; Monnik, Melissa J; Pachter, Nicholas S; Ragunathan, Abiramy; Susman, Rachel D; Townshend, Sharron L; Trainer, Alison H; Troth, Simon L; Tucker, Katherine M; Wallis, Mathew J; Walsh, Maie; Williams, Rachel A; Winship, Ingrid M; Newell, Felicity; Tudini, Emma; Pearson, John V; Poplawski, Nicola K; Mar Fan, Helen G; James, Paul A; Spurdle, Amanda B; Waddell, Nicola.

Genome Med ; 15(1): 74, 2023 09 19.

Artículo en Inglés | MEDLINE | ID: mdl-37723522

12.

Whole-somite rotation generates muscle progenitor cell compartments in the developing zebrafish embryo.

Hollway, Georgina E; Bryson-Richardson, Robert J; Berger, Silke; Cole, Nicholas J; Hall, Thomas E; Currie, Peter D.

Dev Cell ; 12(2): 207-19, 2007 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-17276339

13.

Developing a gene panel for pharmacoresistant epilepsy: a review of epilepsy pharmacogenetics.

Rodriguez-Acevedo, Astrid J; Gordon, Louisa G; Waddell, Nicola; Hollway, Georgina; Vadlamudi, Lata.

Pharmacogenomics ; 22(4): 225-234, 2021 03.

Artículo en Inglés | MEDLINE | ID: mdl-33666520

14.

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

Mallawaarachchi, Amali C; Lundie, Ben; Hort, Yvonne; Schonrock, Nicole; Senum, Sarah R; Gayevskiy, Velimir; Minoche, Andre E; Hollway, Georgina; Ohnesorg, Thomas; Hinchcliffe, Marcus; Patel, Chirag; Tchan, Michel; Mallett, Andrew; Dinger, Marcel E; Rangan, Gopala; Cowley, Mark J; Harris, Peter C; Burnett, Leslie; Shine, John; Furlong, Timothy J.

Eur J Hum Genet ; 29(5): 760-770, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33437033

15.

Cadherin-mediated differential cell adhesion controls slow muscle cell migration in the developing zebrafish myotome.

Cortés, Fernando; Daggett, David; Bryson-Richardson, Robert J; Neyt, Christine; Maule, John; Gautier, Phillipe; Hollway, Georgina E; Keenan, David; Currie, Peter D.

Dev Cell ; 5(6): 865-76, 2003 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-14667409

16.

miR-139-5p Modulates Radiotherapy Resistance in Breast Cancer by Repressing Multiple Gene Networks of DNA Repair and ROS Defense.

Pajic, Marina; Froio, Danielle; Daly, Sheridan; Doculara, Louise; Millar, Ewan; Graham, Peter H; Drury, Alison; Steinmann, Angela; de Bock, Charles E; Boulghourjian, Alice; Zaratzian, Anaiis; Carroll, Susan; Toohey, Joanne; O'Toole, Sandra A; Harris, Adrian L; Buffa, Francesca M; Gee, Harriet E; Hollway, Georgina E; Molloy, Timothy J.

Cancer Res ; 78(2): 501-515, 2018 01 15.

Artículo en Inglés | MEDLINE | ID: mdl-29180477

17.

Sdf1a patterns zebrafish melanophores and links the somite and melanophore pattern defects in choker mutants.

Svetic, Valentina; Hollway, Georgina E; Elworthy, Stone; Chipperfield, Thomas R; Davison, Claire; Adams, Richard J; Eisen, Judith S; Ingham, Philip W; Currie, Peter D; Kelsh, Robert N.

Development ; 134(5): 1011-22, 2007 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-17267445

18.

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy.

Hall, Thomas E; Bryson-Richardson, Robert J; Berger, Silke; Jacoby, Arie S; Cole, Nicholas J; Hollway, Georgina E; Berger, Joachim; Currie, Peter D.

Proc Natl Acad Sci U S A ; 104(17): 7092-7, 2007 Apr 24.

Artículo en Inglés | MEDLINE | ID: mdl-17438294

19.

Scube2 mediates Hedgehog signalling in the zebrafish embryo.

Hollway, Georgina E; Maule, John; Gautier, Philippe; Evans, Timothy M; Keenan, David G; Lohs, Claudia; Fischer, Danielle; Wicking, Carol; Currie, Peter D.

Dev Biol ; 294(1): 104-18, 2006 Jun 01.

Artículo en Inglés | MEDLINE | ID: mdl-16626681

20.

Vertebrate myotome development.

Hollway, Georgina; Currie, Peter.

Birth Defects Res C Embryo Today ; 75(3): 172-9, 2005 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-16187310

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