Literature DB >> 23821785

Rare diseases and now rare data?

Deborah Mascalzoni1, Bartha Maria Knoppers, Ségolène Aymé, Matteo Macilotti, Hugh Dawkins, Simon Woods, Mats G Hansson.   

Abstract

Mesh：

Year:  2013        PMID： 23821785     DOI： 10.1038/nrg3494

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  3 in total

Review 1.  The tension between data sharing and the protection of privacy in genomics research.

Authors:  Jane Kaye
Journal:  Annu Rev Genomics Hum Genet       Date:  2012-03-09       Impact factor: 8.929

2.  Where should we draw the line between quality of care and other ethical concerns related to medical registries and biobanks?

Authors:  Mats Hansson
Journal:  Theor Med Bioeth       Date:  2012-08

Review 3.  Data sharing in genomics--re-shaping scientific practice.

Authors:  Jane Kaye; Catherine Heeney; Naomi Hawkins; Jantina de Vries; Paula Boddington
Journal:  Nat Rev Genet       Date:  2009-05       Impact factor: 53.242
  3 in total
  9 in total

1.  PedAM: a database for Pediatric Disease Annotation and Medicine.

Authors:  Jinmeng Jia; Zhongxin An; Yue Ming; Yongli Guo; Wei Li; Xin Li; Yunxiang Liang; Dongming Guo; Jun Tai; Geng Chen; Yaqiong Jin; Zhimei Liu; Xin Ni; Tieliu Shi
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

2.  Automated Determination of Left Ventricular Function Using Electrocardiogram Data in Patients on Maintenance Hemodialysis.

Authors:  Akhil Vaid; Joy J Jiang; Ashwin Sawant; Karandeep Singh; Patricia Kovatch; Alexander W Charney; David M Charytan; Jasmin Divers; Benjamin S Glicksberg; Lili Chan; Girish N Nadkarni
Journal:  Clin J Am Soc Nephrol       Date:  2022-06-06       Impact factor: 10.614

3.  Rare disease research: Breaking the privacy barrier.

Authors:  Deborah Mascalzoni; Angelo Paradiso; Matts Hansson
Journal:  Appl Transl Genom       Date:  2014-04-18

4.  Sharing health-related data: a privacy test?

Authors:  Stephanie Om Dyke; Edward S Dove; Bartha M Knoppers
Journal:  NPJ Genom Med       Date:  2016-08-17       Impact factor: 8.617

5.  Evaluation of a clinical decision support system for rare diseases: a qualitative study.

Authors:  Jannik Schaaf; Martin Sedlmayr; Brita Sedlmayr; Hans-Ulrich Prokosch; Holger Storf
Journal:  BMC Med Inform Decis Mak       Date:  2021-02-18       Impact factor: 2.796

6.  From tissues to genomes.

Authors:  Bartha M Knoppers
Journal:  G3 (Bethesda)       Date:  2013-08-07       Impact factor: 3.154

7.  eRAM: encyclopedia of rare disease annotations for precision medicine.

Authors:  Jinmeng Jia; Zhongxin An; Yue Ming; Yongli Guo; Wei Li; Yunxiang Liang; Dongming Guo; Xin Li; Jun Tai; Geng Chen; Yaqiong Jin; Zhimei Liu; Xin Ni; Tieliu Shi
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

8.  The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Authors:  Hanns Lochmüller; Josep Torrent I Farnell; Yann Le Cam; Anneliene H Jonker; Lilian Pl Lau; Gareth Baynam; Petra Kaufmann; Hugh Js Dawkins; Paul Lasko; Christopher P Austin; Kym M Boycott
Journal:  Eur J Hum Genet       Date:  2017-11-20       Impact factor: 4.246

9.  The risk of re-identification versus the need to identify individuals in rare disease research.

Authors:  Mats G Hansson; Hanns Lochmüller; Olaf Riess; Franz Schaefer; Michael Orth; Yaffa Rubinstein; Caron Molster; Hugh Dawkins; Domenica Taruscio; Manuel Posada; Simon Woods
Journal:  Eur J Hum Genet       Date:  2016-05-25       Impact factor: 4.246
  9 in total

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