Literature DB >> 28703787

A new era in the interpretation of human genomic variation.

Heidi L Rehm1,2,3.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28703787      PMCID： PMC6543848          DOI： 10.1038/gim.2017.90

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


× No keyword cloud information.
  17 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.  Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.

Authors:  Erin Rooney Riggs; Karen E Wain; Darlene Riethmaier; Melissa Savage; Bethanny Smith-Packard; Erin B Kaminsky; Heidi L Rehm; Christa Lese Martin; David H Ledbetter; W Andrew Faucett
Journal:  Hum Mutat       Date:  2013-04-02       Impact factor: 4.878

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.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

5.  Using ClinVar as a Resource to Support Variant Interpretation.

Authors:  Steven M Harrison; Erin R Riggs; Donna R Maglott; Jennifer M Lee; Danielle R Azzariti; Annie Niehaus; Erin M Ramos; Christa L Martin; Melissa J Landrum; Heidi L Rehm
Journal:  Curr Protoc Hum Genet       Date:  2016-04-01

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.

Authors:  Paris J Vail; Brian Morris; Aric van Kan; Brianna C Burdett; Kelsey Moyes; Aaron Theisen; Iain D Kerr; Richard J Wenstrup; Julie M Eggington
Journal:  J Community Genet       Date:  2015-03-18

8.  OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Authors:  Joanna S Amberger; Carol A Bocchini; François Schiettecatte; Alan F Scott; Ada Hamosh
Journal:  Nucleic Acids Res       Date:  2014-11-26       Impact factor: 19.160

9.  ClinVar: public archive of interpretations of clinically relevant variants.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Jeffrey Hoover; Wonhee Jang; Kenneth Katz; Michael Ovetsky; George Riley; Amanjeev Sethi; Ray Tully; Ricardo Villamarin-Salomon; Wendy Rubinstein; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2015-11-17       Impact factor: 16.971

10.  Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Authors:  Judith Balmaña; Laura Digiovanni; Pragna Gaddam; Michael F Walsh; Vijai Joseph; Zsofia K Stadler; Katherine L Nathanson; Judy E Garber; Fergus J Couch; Kenneth Offit; Mark E Robson; Susan M Domchek
Journal:  J Clin Oncol       Date:  2016-09-30       Impact factor: 44.544
View more
  18 in total

1.  ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Authors:  Alex Henrie; Sarah E Hemphill; Nicole Ruiz-Schultz; Brandon Cushman; Marina T DiStefano; Danielle Azzariti; Steven M Harrison; Heidi L Rehm; Karen Eilbeck
Journal:  Hum Mutat       Date:  2018-06-21       Impact factor: 4.878

2.  Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Authors:  Laura M Amendola; Kathleen Muenzen; Leslie G Biesecker; Kevin M Bowling; Greg M Cooper; Michael O Dorschner; Catherine Driscoll; Ann Katherine M Foreman; Katie Golden-Grant; John M Greally; Lucia Hindorff; Dona Kanavy; Vaidehi Jobanputra; Jennifer J Johnston; Eimear E Kenny; Shannon McNulty; Priyanka Murali; Jeffrey Ou; Bradford C Powell; Heidi L Rehm; Bradley Rolf; Tamara S Roman; Jessica Van Ziffle; Saurav Guha; Avinash Abhyankar; David Crosslin; Eric Venner; Bo Yuan; Hana Zouk; Gail P Jarvik
Journal:  Am J Hum Genet       Date:  2020-10-26       Impact factor: 11.025

3.  Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.

Authors:  Chloe Reuter; Megan E Grove; Kate Orland; Katherine Spoonamore; Colleen Caleshu
Journal:  J Genet Couns       Date:  2017-12-12       Impact factor: 2.537

4.  ClinGen's GenomeConnect registry enables patient-centered data sharing.

Authors:  Juliann M Savatt; Danielle R Azzariti; W Andrew Faucett; Steven Harrison; Jennifer Hart; Brandi Kattman; Melissa J Landrum; David H Ledbetter; Vanessa Rangel Miller; Emily Palen; Heidi L Rehm; Jud Rhode; Stefanie Turner; Jo Anne Vidal; Karen E Wain; Erin Rooney Riggs; Christa Lese Martin
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

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

Authors:  Heidi L Rehm
Journal:  Genet Med       Date:  2017-11-02       Impact factor: 8.822

6.  Unmet needs in human genomic variant interpretation.

Authors:  Peter Bauer; Ellen Karges; Gabriela Oprea; Arndt Rolfs
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

7.  Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Catherine Rehder; Lora J H Bean; David Bick; Elizabeth Chao; Wendy Chung; Soma Das; Julianne O'Daniel; Heidi Rehm; Vandana Shashi; Lisa M Vincent
Journal:  Genet Med       Date:  2021-04-29       Impact factor: 8.822

8.  Predicting Genetic Variation Severity Using Machine Learning to Interpret Molecular Simulations.

Authors:  Matthew D McCoy; John Hamre; Dmitri K Klimov; M Saleet Jafri
Journal:  Biophys J       Date:  2020-12-15       Impact factor: 4.033

9.  Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Authors:  Chloe Mighton; Amanda C Smith; Justin Mayers; Robert Tomaszewski; Sherryl Taylor; Stacey Hume; Ron Agatep; Elizabeth Spriggs; Harriet E Feilotter; Laura Semenuk; Henry Wong; Lorena Lazo de la Vega; Christian R Marshall; Michelle M Axford; Talia Silver; George S Charames; Vanessa Di Gioacchino; Nicholas Watkins; William D Foulkes; Marcos Clavier; Nancy Hamel; George Chong; Ryan E Lamont; Jillian Parboosingh; Aly Karsan; Ian Bosdet; Sean S Young; Tracy Tucker; Mohammad Reza Akbari; Marsha D Speevak; Andrea K Vaags; Matthew S Lebo; Jordan Lerner-Ellis
Journal:  J Med Genet       Date:  2021-04-19       Impact factor: 5.941

10.  Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.

Authors:  Austin Bland; Elizabeth A Harrington; Kyla Dunn; Mitchel Pariani; Julia C K Platt; Megan E Grove; Colleen Caleshu
Journal:  Genet Med       Date:  2017-12-14       Impact factor: 8.822
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.