Literature DB >> 28492529

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond, Heidi L Rehm, Michael S Watson, Marc S Williams, Leslie G Biesecker.   

Abstract

Entities:  

Year:  2017        PMID： 28492529     DOI： 10.1038/gim.2017.18

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


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  10 in total

1.  KRAS mutations in the parental tumour accelerate in vitro growth of tumoroids established from colorectal adenocarcinoma.

Authors:  Nabi Mousavi; Sarah Line Bring Truelsen; Grith Hagel; Lars Nannestad Jorgensen; Henrik Harling; Vera Timmermans; Linea Cecilie Melchior; Anna Hammerich Thysen; Steffen Heegaard; Jacob Thastrup
Journal:  Int J Exp Pathol       Date:  2019-03-18       Impact factor: 1.925

2.  Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Amelie T van der Ven; Dervla M Connaughton; Hadas Ityel; Nina Mann; Makiko Nakayama; Jing Chen; Asaf Vivante; Daw-Yang Hwang; Julian Schulz; Daniela A Braun; Johanna Magdalena Schmidt; David Schapiro; Ronen Schneider; Jillian K Warejko; Ankana Daga; Amar J Majmundar; Weizhen Tan; Tilman Jobst-Schwan; Tobias Hermle; Eugen Widmeier; Shazia Ashraf; Ali Amar; Charlotte A Hoogstraaten; Hannah Hugo; Thomas M Kitzler; Franziska Kause; Caroline M Kolvenbach; Rufeng Dai; Leslie Spaneas; Kassaundra Amann; Deborah R Stein; Michelle A Baum; Michael J G Somers; Nancy M Rodig; Michael A Ferguson; Avram Z Traum; Ghaleb H Daouk; Radovan Bogdanović; Natasa Stajić; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan M Fathy; Danko Milosevic; Muna Al-Saffar; Hazem S Awad; Loai A Eid; Aravind Selvin; Prabha Senguttuvan; Simone Sanna-Cherchi; Heidi L Rehm; Daniel G MacArthur; Monkol Lek; Kristen M Laricchia; Michael W Wilson; Shrikant M Mane; Richard P Lifton; Richard S Lee; Stuart B Bauer; Weining Lu; Heiko M Reutter; Velibor Tasic; Shirlee Shril; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2018-08-24       Impact factor: 10.121

3.  Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA).

Authors:  Harvy Velasco; Diana Ramírez-Montaño
Journal:  Front Genet       Date:  2018-03-14       Impact factor: 4.599

4.  Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.

Authors:  Andrew T Headrick; Jill A Rosenfeld; Yaping Yang; Hari Tunuguntla; Hugh D Allen; Daniel J Penny; Jeffrey J Kim; Andrew P Landstrom
Journal:  Mol Genet Genomic Med       Date:  2019-04-15       Impact factor: 2.183

5.  The Right to Know: A Revised Standard for Reporting Incidental Findings.

Authors:  G Owen Schaefer; Julian Savulescu
Journal:  Hastings Cent Rep       Date:  2018-03       Impact factor: 2.683

Review 6.  Genomic knowledge sharing: A review of the ethical and legal issues.

Authors:  Leslie P Francis
Journal:  Appl Transl Genom       Date:  2014-09-16

Review 7.  GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

Authors:  L Audi; S F Ahmed; N Krone; M Cools; K McElreavey; P M Holterhus; A Greenfield; A Bashamboo; O Hiort; S A Wudy; R McGowan
Journal:  Eur J Endocrinol       Date:  2018-10-01       Impact factor: 6.664

8.  Physicians' perspectives on receiving unsolicited genomic results.

Authors:  Douglas B Pet; Ingrid A Holm; Janet L Williams; Melanie F Myers; Laurie L Novak; Kyle B Brothers; Georgia L Wiesner; Ellen W Clayton
Journal:  Genet Med       Date:  2018-07-05       Impact factor: 8.822

9.  Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.

Authors:  Zuo Hua Chi; Wei Wei; Ding Fang Bu; Huan Huan Li; Fei Ding; Ping Zhu
Journal:  Medicine (Baltimore)       Date:  2018-10       Impact factor: 1.817

10.  Genome analysis and knowledge-driven variant interpretation with TGex.

Authors:  Dvir Dahary; Yaron Golan; Yaron Mazor; Ofer Zelig; Ruth Barshir; Michal Twik; Tsippi Iny Stein; Guy Rosner; Revital Kariv; Fei Chen; Qiang Zhang; Yiping Shen; Marilyn Safran; Doron Lancet; Simon Fishilevich
Journal:  BMC Med Genomics       Date:  2019-12-30       Impact factor: 3.063
  10 in total

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