Zobrazeno 1 - 10 of 133 pro vyhledávání: '"Shamsani J"'
1
Akademický článek
Amyotrophic lateral sclerosis diagnosis using machine learning and multi-omic data integration.
Autor: Nikafshan Rad H; School of Information and Communication Technology, Griffith University, 170 Kessels Rd, Nathan, Brisbane, 4111, QLD, Australia., Su Z; GenieUs Genomics Pty Ltd, Sydney, 2000, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, 2052, NSW, Australia., Trinh A; GenieUs Genomics Pty Ltd, Sydney, 2000, NSW, Australia., Hakim Newton MA; School of Information and Physical Sciences, The University of Newcastle, University Drive, Callaghan, Newcastle, 2308, NSW, Australia., Shamsani J; GenieUs Genomics Pty Ltd, Sydney, 2000, NSW, Australia., Nygc Als Consortium; The New York Genome Center, 101 Avenue of the Americas, New York, 10013, NY, USA., Karim A; School of Information and Communication Technology, Griffith University, 170 Kessels Rd, Nathan, Brisbane, 4111, QLD, Australia., Sattar A; School of Information and Communication Technology, Griffith University, 170 Kessels Rd, Nathan, Brisbane, 4111, QLD, Australia.; Institute of Integrated and Intelligent Systems, Griffith University, 170 Kessels Rd, Nathan, Brisbane, 4111, QLD, Australia.
Publikováno v: Heliyon [Heliyon] 2024 Oct 01; Vol. 10 (20), pp. e38583. Date of Electronic Publication: 2024 Oct 01 (Print Publication: 2024).
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2
Akademický článek
Novel variants in established epilepsy genes in focal epilepsy.
Autor: Kovačević M; Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address: massa.kovacevic@gmail.com., Milićević O; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Branković M; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Janković M; Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia., Novaković I; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Sokić D; Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Ristić A; Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Shamsani J; GenieUs Genomics, Darlinghurst, Australia., Vojvodić N; Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Publikováno v: Seizure [Seizure] 2023 Aug; Vol. 110, pp. 146-152. Date of Electronic Publication: 2023 Jun 07.
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3
Akademický článek
Novel GATOR1 variants in focal epilepsy.
Autor: Kovačević M; Neurology Clinic, University Clinical Center of Serbia, Serbia; Faculty of Medicine, University of Belgrade, Serbia. Electronic address: massa.kovacevic@gmail.com., Janković M; Neurology Clinic, University Clinical Center of Serbia, Serbia., Branković M; Faculty of Medicine, University of Belgrade, Serbia., Milićević O; Faculty of Medicine, University of Belgrade, Serbia., Novaković I; Faculty of Medicine, University of Belgrade, Serbia., Sokić D; Neurology Clinic, University Clinical Center of Serbia, Serbia; Faculty of Medicine, University of Belgrade, Serbia., Ristić A; Neurology Clinic, University Clinical Center of Serbia, Serbia; Faculty of Medicine, University of Belgrade, Serbia., Shamsani J; GenieUs Genomics, Australia., Vojvodić N; Neurology Clinic, University Clinical Center of Serbia, Serbia; Faculty of Medicine, University of Belgrade, Serbia.
Publikováno v: Epilepsy & behavior : E&B [Epilepsy Behav] 2023 Apr; Vol. 141, pp. 109139. Date of Electronic Publication: 2023 Feb 26.
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4
Akademický článek
Molecular Classification and Interpretation of Amyotrophic Lateral Sclerosis Using Deep Convolution Neural Networks and Shapley Values.
Autor: Karim A; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., Su Z; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, NSW 2033, Australia., West PK; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., Keon M; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., The Nygc Als Consortium; The New York Genome Center, 101 Avenue of the Americas, New York, NY 10013, USA., Shamsani J; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., Brennan S; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., Wong T; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., Milicevic O; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., Teunisse G; GenieUs Genomics, 19a Boundary St, Darlinghurst, NSW 2010, Australia., Rad HN; Institute of Integrated and Intelligent Systems, Griffith University, Nathan, QLD 4111, Australia., Sattar A; Institute of Integrated and Intelligent Systems, Griffith University, Nathan, QLD 4111, Australia.
Publikováno v: Genes [Genes (Basel)] 2021 Oct 30; Vol. 12 (11). Date of Electronic Publication: 2021 Oct 30.
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5
Akademický článek
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Autor: Kondrashova O; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia., Shamsani J; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia., O'Mara TA; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia., Newell F; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia., McCart Reed AE; UQ Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane 4029, Australia., Lakhani SR; UQ Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane 4029, Australia.; Anatomical Pathology, Pathology Queensland, Brisbane 4029, Australia., Kirk J; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney 2145, Australia.; Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney Medical School, University of Sydney, Sydney 2145, Australia., Pearson JV; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia., Waddell N; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.
Publikováno v: Cancers [Cancers (Basel)] 2021 Apr 07; Vol. 13 (8). Date of Electronic Publication: 2021 Apr 07.
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6
Akademický článek
GWAS and 3D chromatin mapping identifies multicancer risk genes associated with hormone-dependent cancers.
Autor: Rivera, Isela Sarahi1,2 (AUTHOR), French, Juliet D.1,2,3 (AUTHOR) juliet.french@qimrberghofer.edu.au, Bitar, Mainá1,3 (AUTHOR), Sivakumaran, Haran1 (AUTHOR), Nair, Sneha1 (AUTHOR), Kaufmann, Susanne1 (AUTHOR), Hillman, Kristine M.1 (AUTHOR), Moradi Marjaneh, Mahdi1,4 (AUTHOR), Beesley, Jonathan1,3 (AUTHOR), Edwards, Stacey L.1,2,3 (AUTHOR)
Publikováno v: PLoS Genetics. 11/25/2024, Vol. 20 Issue 11, p1-14. 14p.
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7
Akademický článek
Genetic variation perspective reveals potential drug targets for subtypes of endometrial cancer.
Autor: Zhu, Jiamei1,2,3 (AUTHOR), Zhang, Ting1 (AUTHOR), Jiang, Juan2 (AUTHOR), Yang, Mei3 (AUTHOR), Xia, Nan2 (AUTHOR), Chen, Youguo1 (AUTHOR) chenyouguo@suda.edu.cn
Publikováno v: Scientific Reports. 11/15/2024, Vol. 14 Issue 1, p1-12. 12p.
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9
Akademický článek
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Autor: Innella, Giovanni1,2 (AUTHOR), Fortuno, Cristina3 (AUTHOR), Caleca, Laura4 (AUTHOR), Feng, Bing‐Jian5 (AUTHOR), Carroll, Courtney5 (AUTHOR), Parsons, Michael T.3 (AUTHOR), Miccoli, Sara2 (AUTHOR), Montagna, Marco6 (AUTHOR), Calistri, Daniele7 (AUTHOR), Cortesi, Laura8 (AUTHOR), Pasini, Barbara9 (AUTHOR), Manoukian, Siranoush10 (AUTHOR), Giachino, Daniela11,12 (AUTHOR), Matricardi, Laura6 (AUTHOR), Foti, Maria Cristina6 (AUTHOR), Zampiga, Valentina7 (AUTHOR), Piombino, Claudia8 (AUTHOR), Barbieri, Elena8 (AUTHOR), Lutati, Francesca Vignolo9 (AUTHOR), Azzolini, Jacopo10 (AUTHOR)
Publikováno v: Cancer Medicine. Aug2024, Vol. 13 Issue 16, p1-13. 13p.
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10
Akademický článek
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Autor: Shamsani J; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane QLD, Australia., Kazakoff SH; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane QLD, Australia., Armean IM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., McLaren W; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane QLD, Australia., Thompson BA; Centre for Epidemiology and Biostatistics, School of Population and Global Health, University of Melbourne, Melbourne VIC, Australia., O'Mara TA; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane QLD, Australia., Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Waddell N; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane QLD, Australia., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane QLD, Australia.
Publikováno v: Bioinformatics (Oxford, England) [Bioinformatics] 2019 Jul 01; Vol. 35 (13), pp. 2315-2317.
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