Literature DB >> 25229935

Diagnostic clinical genome and exome sequencing.

Leslie G Biesecker, Robert C Green.   

Abstract

Mesh：

Year:  2014        PMID： 25229935     DOI： 10.1056/NEJMc1408914

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  59 in total

1.  Is the ``$1000 Genome'' really $1000? Understanding the full benefits and costs of genomic sequencing.

Authors:  Kathryn A Phillips; Mark J Pletcher; Uri Ladabaum
Journal:  Technol Health Care       Date:  2015       Impact factor: 1.285

Review 2.  Precision medicine for advanced prostate cancer.

Authors:  Stephanie A Mullane; Eliezer M Van Allen
Journal:  Curr Opin Urol       Date:  2016-05       Impact factor: 2.309

3.  Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

Authors:  Kalotina Machini; Ozge Ceyhan-Birsoy; Danielle R Azzariti; Himanshu Sharma; Peter Rossetti; Lisa Mahanta; Laura Hutchinson; Heather McLaughlin; Robert C Green; Matthew Lebo; Heidi L Rehm
Journal:  Am J Hum Genet       Date:  2019-06-27       Impact factor: 11.025

4.  Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.

Authors:  Jean Lillian Paul; Rachel Pope-Couston; Samantha Wake; Trent Burgess; Tiong Yang Tan
Journal:  Eur J Hum Genet       Date:  2016-11-16       Impact factor: 4.246

5.  The fiduciary relationship model for managing clinical genomic "incidental" findings.

Authors:  Gabriel Lázaro-Muñoz
Journal:  J Law Med Ethics       Date:  2014       Impact factor: 1.718

6.  Performance evaluation of pathogenicity-computation methods for missense variants.

Authors:  Jinchen Li; Tingting Zhao; Yi Zhang; Kun Zhang; Leisheng Shi; Yun Chen; Xingxing Wang; Zhongsheng Sun
Journal:  Nucleic Acids Res       Date:  2018-09-06       Impact factor: 16.971

Review 7.  Practical Considerations for APOL1 Genotyping in the Living Kidney Donor Evaluation.

Authors:  Alejandra M Mena-Gutierrez; Amber M Reeves-Daniel; Colleen L Jay; Barry I Freedman
Journal:  Transplantation       Date:  2020-01       Impact factor: 4.939

8.  Exome Sequencing in Children.

Authors:  Elisa A Mahler; Jessika Johannsen; Konstantinos Tsiakas; Katja Kloth; Sabine Lüttgen; Chris Mühlhausen; Bader Alhaddad; Tobias B Haack; Tim M Strom; Fanny Kortüm; Thomas Meitinger; Ania C Muntau; René Santer; Christian Kubisch; Davor Lessel; Jonas Denecke; Maja Hempel
Journal:  Dtsch Arztebl Int       Date:  2019-03-22       Impact factor: 5.594

9.  "Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.

Authors:  Ashley N Tomlinson; Debra Skinner; Denise L Perry; Sarah R Scollon; Myra I Roche; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2015-04-26       Impact factor: 2.537

Review 10.  Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.

Authors:  Ignatia B van den Veyver; Christine M Eng
Journal:  Cold Spring Harb Perspect Med       Date:  2015-08-07       Impact factor: 6.915
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