Literature DB >> 30281996

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

David R Adams1, Christine M Eng1.   

Abstract

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Year:  2018        PMID： 30281996     DOI： 10.1056/NEJMra1711801

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


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  61 in total

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3.  parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.

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Review 4.  The duality of human oncoproteins: drivers of cancer and congenital disorders.

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Review 5.  A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders.

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6.  The Socrates Project for Difficult Diagnosis at Northwestern Medicine.

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Review 7.  Genetics of dilated cardiomyopathy: practical implications for heart failure management.

Authors:  Andrew N Rosenbaum; Katherine E Agre; Naveen L Pereira
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8.  Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.

Authors:  Eileen Crowley; Neil Warner; Jie Pan; Sam Khalouei; Abdul Elkadri; Karoline Fiedler; Justin Foong; Andrei L Turinsky; Dana Bronte-Tinkew; Shiqi Zhang; Jamie Hu; David Tian; Dalin Li; Julie Horowitz; Iram Siddiqui; Julia Upton; Chaim M Roifman; Peter C Church; Donna A Wall; Arun K Ramani; Daniel Kotlarz; Christoph Klein; Holm Uhlig; Scott B Snapper; Claudia Gonzaga-Jauregui; Andrew D Paterson; Dermot P B McGovern; Michael Brudno; Thomas D Walters; Anne M Griffiths; Aleixo M Muise
Journal:  Gastroenterology       Date:  2020-02-19       Impact factor: 22.682

9.  Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.

Authors:  Mary E Norton; Jessica Van Ziffle; Billie R Lianoglou; Ugur Hodoglugil; W Patrick Devine; Teresa N Sparks
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10.  The role of exome sequencing in newborn screening for inborn errors of metabolism.

Authors:  Jennifer M Puck; Steven E Brenner; Aashish N Adhikari; Renata C Gallagher; Yaqiong Wang; Robert J Currier; George Amatuni; Laia Bassaganyas; Flavia Chen; Kunal Kundu; Mark Kvale; Sean D Mooney; Robert L Nussbaum; Savanna S Randi; Jeremy Sanford; Joseph T Shieh; Rajgopal Srinivasan; Uma Sunderam; Hao Tang; Dedeepya Vaka; Yangyun Zou; Barbara A Koenig; Pui-Yan Kwok; Neil Risch
Journal:  Nat Med       Date:  2020-08-10       Impact factor: 53.440
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