Literature DB >> 24401097

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Katherine Lambertson1, Sharon F Terry.   

Abstract

Mesh：

Year:  2014        PMID： 24401097      PMCID： PMC3887419          DOI： 10.1089/gtmb.2014.1551

Source DB:  PubMed          Journal:  Genet Test Mol Biomarkers        ISSN： 1945-0257


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  9 in total

1.  Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain.

Authors:  George P Patrinos; David N Cooper; Erik van Mulligen; Vassiliki Gkantouna; Giannis Tzimas; Zuotian Tatum; Erik Schultes; Marco Roos; Barend Mons
Journal:  Hum Mutat       Date:  2012-07-23       Impact factor: 4.878

2.  Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Authors:  Belinda Giardine; Joseph Borg; Douglas R Higgs; Kenneth R Peterson; Sjaak Philipsen; Donna Maglott; Belinda K Singleton; David J Anstee; A Nazli Basak; Barnaby Clark; Flavia C Costa; Paula Faustino; Halyna Fedosyuk; Alex E Felice; Alain Francina; Renzo Galanello; Monica V E Gallivan; Marianthi Georgitsi; Richard J Gibbons; Piero C Giordano; Cornelis L Harteveld; James D Hoyer; Martin Jarvis; Philippe Joly; Emmanuel Kanavakis; Panagoula Kollia; Stephan Menzel; Webb Miller; Kamran Moradkhani; John Old; Adamantia Papachatzopoulou; Manoussos N Papadakis; Petros Papadopoulos; Sonja Pavlovic; Lucia Perseu; Milena Radmilovic; Cathy Riemer; Stefania Satta; Iris Schrijver; Maja Stojiljkovic; Swee Lay Thein; Jan Traeger-Synodinos; Ray Tully; Takahito Wada; John S Waye; Claudia Wiemann; Branka Zukic; David H K Chui; Henri Wajcman; Ross C Hardison; George P Patrinos
Journal:  Nat Genet       Date:  2011-03-20       Impact factor: 38.330

3.  Crowdsourcing human mutations.

Authors: 
Journal:  Nat Genet       Date:  2011-03-29       Impact factor: 38.330

4.  Human Variome Project: an international collaboration to catalogue human genetic variation.

Authors:  Huijun Z Ring; Pui-Yan Kwok; Richard G H Cotton
Journal:  Pharmacogenomics       Date:  2006-10       Impact factor: 2.533

5.  LOVD v.2.0: the next generation in gene variant databases.

Authors:  Ivo F A C Fokkema; Peter E M Taschner; Gerard C P Schaafsma; J Celli; Jeroen F J Laros; Johan T den Dunnen
Journal:  Hum Mutat       Date:  2011-02-22       Impact factor: 4.878

Review 6.  Founder mutations in BRCA1 and BRCA2 genes.

Authors:  R Ferla; V Calò; S Cascio; G Rinaldi; G Badalamenti; I Carreca; E Surmacz; G Colucci; V Bazan; A Russo
Journal:  Ann Oncol       Date:  2007-06       Impact factor: 32.976

Review 7.  Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations.

Authors:  James D Fackenthal; Olufunmilayo I Olopade
Journal:  Nat Rev Cancer       Date:  2007-12       Impact factor: 60.716

8.  Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

Authors:  Belinda Giardine; Joseph Borg; Emmanouil Viennas; Cristiana Pavlidis; Kamran Moradkhani; Philippe Joly; Marina Bartsakoulia; Cathy Riemer; Webb Miller; Giannis Tzimas; Henri Wajcman; Ross C Hardison; George P Patrinos
Journal:  Nucleic Acids Res       Date:  2013-10-16       Impact factor: 16.971

9.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971
  9 in total
  3 in total

Review 1.  Living laboratory: whole-genome sequencing as a learning healthcare enterprise.

Authors:  M Angrist; L Jamal
Journal:  Clin Genet       Date:  2014-09-06       Impact factor: 4.438

2.  Distributing the future: The weak justifications for keeping human genomic databases secret and the challenges and opportunities in reverse engineering them.

Authors:  Misha Angrist; Robert Cook-Deegan
Journal:  Appl Transl Genom       Date:  2014-12-01

3.  Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Authors:  Sun Hee Rosenthal; Weimin Sun; Ke Zhang; Yan Liu; Quoclinh Nguyen; Anna Gerasimova; Camille Nery; Linda Cheng; Carolyn Castonguay; Elaine Hiller; James Li; Christopher Elzinga; David Wolfson; Alla Smolgovsky; Rebecca Chen; Arlene Buller-Burckle; Joseph Catanese; Andrew Grupe; Felicitas Lacbawan; Renius Owen
Journal:  Biomed Res Int       Date:  2020-01-22       Impact factor: 3.411
  3 in total

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