Literature DB >> 28492888

Finding the Rare Pathogenic Variants in a Human Genome.

James P Evans1, Bradford C Powell2, Jonathan S Berg2.   

Abstract

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Year:  2017        PMID： 28492888     DOI： 10.1001/jama.2017.0432

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  12 in total

Review 1.  Genetic Testing in Clinical Settings.

Authors:  Nora Franceschini; Amber Frick; Jeffrey B Kopp
Journal:  Am J Kidney Dis       Date:  2018-04-11       Impact factor: 8.860

2.  How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.

Authors:  Jason L Vassy; J Kelly Davis; Christine Kirby; Ian J Richardson; Robert C Green; Amy L McGuire; Peter A Ubel
Journal:  J Gen Intern Med       Date:  2018-01-26       Impact factor: 5.128

Review 3.  Personalized Medicine and the Power of Electronic Health Records.

Authors:  Noura S Abul-Husn; Eimear E Kenny
Journal:  Cell       Date:  2019-03-21       Impact factor: 41.582

4.  Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis.

Authors:  Rachel Knevel; Saskia le Cessie; Chikashi C Terao; Kamil Slowikowski; Jing Cui; Tom W J Huizinga; Karen H Costenbader; Katherine P Liao; Elizabeth W Karlson; Soumya Raychaudhuri
Journal:  Sci Transl Med       Date:  2020-05-27       Impact factor: 17.956

5.  Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients?

Authors:  Paul S Appelbaum; Deborah F Stiles; Wendy Chung
Journal:  Ann Intern Med       Date:  2019-10-01       Impact factor: 25.391

Review 6.  Cancer DNA in the Circulation: The Liquid Biopsy.

Authors:  Hatim Husain; Victor E Velculescu
Journal:  JAMA       Date:  2017-10-03       Impact factor: 56.272

7.  A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation.

Authors:  Sarah E Brnich; Eyla Cristina Arteaga; Yueting Wang; Xianming Tan; Jonathan S Berg
Journal:  J Mol Diagn       Date:  2021-05-06       Impact factor: 5.341

8.  Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Authors:  Yoon Young Choi; Su-Jin Shin; Jae Eun Lee; Lisa Madlensky; Seung-Tae Lee; Ji Soo Park; Jeong-Hyeon Jo; Hyunki Kim; Daniela Nachmanson; Xiaojun Xu; Sung Hoon Noh; Jae-Ho Cheong; Olivier Harismendy
Journal:  Sci Rep       Date:  2021-07-20       Impact factor: 4.379

9.  A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.

Authors:  Muin J Khoury; W Gregory Feero; David A Chambers; Lawrence C Brody; Nazneen Aziz; Robert C Green; A Cecile J W Janssens; Michael F Murray; Laura Lyman Rodriguez; Joni L Rutter; Sheri D Schully; Deborah M Winn; George A Mensah
Journal:  PLoS Med       Date:  2018-08-02       Impact factor: 11.069

Review 10.  Genomic testing in pediatric epilepsy.

Authors:  Drew M Thodeson; Jason Y Park
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-08-01
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