Literature DB >> 29095813

Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.

Heidi L Rehm1,2,3.   

Abstract

Entities:  

Year:  2017        PMID： 29095813     DOI： 10.1038/gim.2017.179

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  7 in total

1.  MutaDATABASE: a centralized and standardized DNA variation database.

Authors:  Sherri Bale; Martijn Devisscher; Wim Van Criekinge; Heidi L Rehm; Frederik Decouttere; Robert Nussbaum; Johan T Den Dunnen; Patrick Willems
Journal:  Nat Biotechnol       Date:  2011-02       Impact factor: 54.908

2.  Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

Authors:  Kathryn B Garber; Lisa M Vincent; John J Alexander; Lora J H Bean; Sherri Bale; Madhuri Hegde
Journal:  Am J Hum Genet       Date:  2016-10-27       Impact factor: 11.025

3.  Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Authors:  Laura M Amendola; Gail P Jarvik; Michael C Leo; Heather M McLaughlin; Yassmine Akkari; Michelle D Amaral; Jonathan S Berg; Sawona Biswas; Kevin M Bowling; Laura K Conlin; Greg M Cooper; Michael O Dorschner; Matthew C Dulik; Arezou A Ghazani; Rajarshi Ghosh; Robert C Green; Ragan Hart; Carrie Horton; Jennifer J Johnston; Matthew S Lebo; Aleksandar Milosavljevic; Jeffrey Ou; Christine M Pak; Ronak Y Patel; Sumit Punj; Carolyn Sue Richards; Joseph Salama; Natasha T Strande; Yaping Yang; Sharon E Plon; Leslie G Biesecker; Heidi L Rehm
Journal:  Am J Hum Genet       Date:  2016-05-12       Impact factor: 11.025

4.  A new era in the interpretation of human genomic variation.

Authors:  Heidi L Rehm
Journal:  Genet Med       Date:  2017-07-13       Impact factor: 8.822

5.  Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Authors:  Matthew S Lebo; Kathleen-Rose Zakoor; Kathy Chun; Marsha D Speevak; John S Waye; Elizabeth McCready; Jillian S Parboosingh; Ryan E Lamont; Harriet Feilotter; Ian Bosdet; Tracy Tucker; Sean Young; Aly Karsan; George S Charames; Ronald Agatep; Elizabeth L Spriggs; Caitlin Chisholm; Nasim Vasli; Hussein Daoud; Olga Jarinova; Robert Tomaszewski; Stacey Hume; Sherryl Taylor; Mohammad R Akbari; Jordan Lerner-Ellis
Journal:  Genet Med       Date:  2017-07-20       Impact factor: 8.822

6.  Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Authors:  Steven M Harrison; Jill S Dolinsky; Amy E Knight Johnson; Tina Pesaran; Danielle R Azzariti; Sherri Bale; Elizabeth C Chao; Soma Das; Lisa Vincent; Heidi L Rehm
Journal:  Genet Med       Date:  2017-03-16       Impact factor: 8.822

7.  Sources of discordance among germ-line variant classifications in ClinVar.

Authors:  Shan Yang; Stephen E Lincoln; Yuya Kobayashi; Keith Nykamp; Robert L Nussbaum; Scott Topper
Journal:  Genet Med       Date:  2017-06-01       Impact factor: 8.822
  7 in total

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