Literature DB >> 32259080

Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments.

Rachelle J Bienstock1.   

Abstract

Because of the decreased cost and increased ease of whole genome analysis, the diagnosis of rare, orphan diseases has entered a new era. This new technological advance, combined with the worldwide web connections, now permits sharing, searching, and linking genotype, phenotype, and other information to facilitate diagnosis. Databases currently accessible and searchable by researchers, clinicians, and patients will be presented and discussed.
Copyright © 2019 American Chemical Society.

Entities:  

Year:  2019        PMID: 32259080      PMCID: PMC7089004          DOI: 10.1021/acsptsci.9b00034

Source DB:  PubMed          Journal:  ACS Pharmacol Transl Sci        ISSN: 2575-9108


  14 in total

1.  PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.

Authors:  Orion J Buske; Marta Girdea; Sergiu Dumitriu; Bailey Gallinger; Taila Hartley; Heather Trang; Andriy Misyura; Tal Friedman; Chandree Beaulieu; William P Bone; Amanda E Links; Nicole L Washington; Melissa A Haendel; Peter N Robinson; Cornelius F Boerkoel; David Adams; William A Gahl; Kym M Boycott; Michael Brudno
Journal:  Hum Mutat       Date:  2015-08-31       Impact factor: 4.878

2.  The Matchmaker Exchange: a platform for rare disease gene discovery.

Authors:  Anthony A Philippakis; Danielle R Azzariti; Sergi Beltran; Anthony J Brookes; Catherine A Brownstein; Michael Brudno; Han G Brunner; Orion J Buske; Knox Carey; Cassie Doll; Sergiu Dumitriu; Stephanie O M Dyke; Johan T den Dunnen; Helen V Firth; Richard A Gibbs; Marta Girdea; Michael Gonzalez; Melissa A Haendel; Ada Hamosh; Ingrid A Holm; Lijia Huang; Matthew E Hurles; Ben Hutton; Joel B Krier; Andriy Misyura; Christopher J Mungall; Justin Paschall; Benedict Paten; Peter N Robinson; François Schiettecatte; Nara L Sobreira; Ganesh J Swaminathan; Peter E Taschner; Sharon F Terry; Nicole L Washington; Stephan Züchner; Kym M Boycott; Heidi L Rehm
Journal:  Hum Mutat       Date:  2015-10       Impact factor: 4.878

3.  eRepo-ORP: Exploring the Opportunity Space to Combat Orphan Diseases with Existing Drugs.

Authors:  Michal Brylinski; Misagh Naderi; Rajiv Gandhi Govindaraj; Jeffrey Lemoine
Journal:  J Mol Biol       Date:  2017-12-10       Impact factor: 5.469

4.  NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection.

Authors:  Yaffa R Rubinstein; Pamela McInnes
Journal:  Contemp Clin Trials       Date:  2015-03-20       Impact factor: 2.226

5.  Data sharing in the undiagnosed diseases network.

Authors:  Catherine A Brownstein; Ingrid A Holm; Rachel Ramoni; David B Goldstein
Journal:  Hum Mutat       Date:  2015-08-27       Impact factor: 4.878

6.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Authors:  C Shaw-Smith; R Redon; L Rickman; M Rio; L Willatt; H Fiegler; H Firth; D Sanlaville; R Winter; L Colleaux; M Bobrow; N P Carter
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

7.  Identification of novel candidate disease genes from de novo exonic copy number variants.

Authors:  Tomasz Gambin; Bo Yuan; Weimin Bi; Pengfei Liu; Jill A Rosenfeld; Zeynep Coban-Akdemir; Amber N Pursley; Sandesh C S Nagamani; Ronit Marom; Sailaja Golla; Lauren Dengle; Heather G Petrie; Reuben Matalon; Lisa Emrick; Monica B Proud; Diane Treadwell-Deering; Hsiao-Tuan Chao; Hannele Koillinen; Chester Brown; Nora Urraca; Roya Mostafavi; Saunder Bernes; Elizabeth R Roeder; Kimberly M Nugent; Patricia I Bader; Gary Bellus; Michael Cummings; Hope Northrup; Myla Ashfaq; Rachel Westman; Robert Wildin; Anita E Beck; LaDonna Immken; Lindsay Elton; Shaun Varghese; Edward Buchanan; Laurence Faivre; Mathilde Lefebvre; Christian P Schaaf; Magdalena Walkiewicz; Yaping Yang; Sung-Hae L Kang; Seema R Lalani; Carlos A Bacino; Arthur L Beaudet; Amy M Breman; Janice L Smith; Sau Wai Cheung; James R Lupski; Ankita Patel; Chad A Shaw; Paweł Stankiewicz
Journal:  Genome Med       Date:  2017-09-21       Impact factor: 11.117

8.  Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.

Authors:  Sonia Pavan; Kathrin Rommel; María Elena Mateo Marquina; Sophie Höhn; Valérie Lanneau; Ana Rath
Journal:  PLoS One       Date:  2017-01-18       Impact factor: 3.240

Review 9.  The importance of international collaboration for rare diseases research: a European perspective.

Authors:  D Julkowska; C P Austin; C M Cutillo; D Gancberg; C Hager; J Halftermeyer; A H Jonker; L P L Lau; I Norstedt; A Rath; R Schuster; E Simelyte; S van Weely
Journal:  Gene Ther       Date:  2017-07-27       Impact factor: 5.250

10.  Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

Authors:  Eleni A Chatzimichali; Simon Brent; Benjamin Hutton; Daniel Perrett; Caroline F Wright; Andrew P Bevan; Matthew E Hurles; Helen V Firth; Ganesh J Swaminathan
Journal:  Hum Mutat       Date:  2015-08-20       Impact factor: 4.878

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