Literature DB >> 29757403

The Ancestral Pace of Variant Reclassification.

Sharon E Plon1,2, Heidi L Rehm3,4.   

Abstract

Mesh:

Year:  2018        PMID: 29757403      PMCID: PMC6186517          DOI: 10.1093/jnci/djy075

Source DB:  PubMed          Journal:  J Natl Cancer Inst        ISSN: 0027-8874            Impact factor:   13.506


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  16 in total

1.  Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

Authors:  Thomas P Slavin; Lily R Van Tongeren; Carolyn E Behrendt; Ilana Solomon; Christina Rybak; Bita Nehoray; Lili Kuzmich; Mariana Niell-Swiller; Kathleen R Blazer; Shu Tao; Kai Yang; Julie O Culver; Sharon Sand; Danielle Castillo; Josef Herzog; Stacy W Gray; Jeffrey N Weitzel
Journal:  J Natl Cancer Inst       Date:  2018-10-01       Impact factor: 13.506

2.  Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy.

Authors:  Latrice G Landry; Heidi L Rehm
Journal:  JAMA Cardiol       Date:  2018-04-01       Impact factor: 14.676

3.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

4.  ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.

Authors:  Amanda B Spurdle; Sue Healey; Andrew Devereau; Frans B L Hogervorst; Alvaro N A Monteiro; Katherine L Nathanson; Paolo Radice; Dominique Stoppa-Lyonnet; Sean Tavtigian; Barbara Wappenschmidt; Fergus J Couch; David E Goldgar
Journal:  Hum Mutat       Date:  2011-11-03       Impact factor: 4.878

5.  ACMG clinical laboratory standards for next-generation sequencing.

Authors:  Heidi L Rehm; Sherri J Bale; Pinar Bayrak-Toydemir; Jonathan S Berg; Kerry K Brown; Joshua L Deignan; Michael J Friez; Birgit H Funke; Madhuri R Hegde; Elaine Lyon
Journal:  Genet Med       Date:  2013-07-25       Impact factor: 8.822

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.  Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array.

Authors:  Stephanie A Bien; Genevieve L Wojcik; Niha Zubair; Christopher R Gignoux; Alicia R Martin; Jonathan M Kocarnik; Lisa W Martin; Steven Buyske; Jeffrey Haessler; Ryan W Walker; Iona Cheng; Mariaelisa Graff; Lucy Xia; Nora Franceschini; Tara Matise; Regina James; Lucia Hindorff; Loic Le Marchand; Kari E North; Christopher A Haiman; Ulrike Peters; Ruth J F Loos; Charles L Kooperberg; Carlos D Bustamante; Eimear E Kenny; Christopher S Carlson
Journal:  PLoS One       Date:  2016-12-14       Impact factor: 3.240

8.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

9.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Authors:  Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

10.  Communicating new knowledge on previously reported genetic variants.

Authors:  Samuel J Aronson; Eugene H Clark; Matthew Varugheese; Samantha Baxter; Lawrence J Babb; Heidi L Rehm
Journal:  Genet Med       Date:  2012-04-05       Impact factor: 8.822

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  2 in total

1.  Evolution of germline TP53 variant classification in children with cancer.

Authors:  E Tallis; S Scollon; D I Ritter; S E Plon
Journal:  Cancer Genet       Date:  2022-03-03

2.  Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.

Authors:  Amelle Shillington; Alonso Zea Vera; Tanya Perry; Robert Hopkin; Cameron Thomas; David Cooper; Kristen Suhrie
Journal:  Mol Genet Genomic Med       Date:  2021-09-16       Impact factor: 2.183

  2 in total

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