Literature DB >> 24941179

Diagnostic clinical genome and exome sequencing.

Leslie G Biesecker1, Robert C Green.   

Abstract

Mesh：

Year:  2014        PMID： 24941179     DOI： 10.1056/NEJMra1312543

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


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  201 in total

1.  Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families".

Authors:  Benjamin S Wilfond; Conrad V Fernandez; Robert C Green
Journal:  J Law Med Ethics       Date:  2015       Impact factor: 1.718

2.  Challenges of using next generation sequencing in newborn screening.

Authors:  Eyal Reinstein
Journal:  Genet Res (Camb)       Date:  2015-11-02       Impact factor: 1.588

3.  Against all odds: blended phenotypes of three single-gene defects.

Authors:  Yong Li; Anika Salfelder; Karl Otfried Schwab; Sarah Catharina Grünert; Tanja Velten; Dieter Lütjohann; Pablo Villavicencio-Lorini; Uta Matysiak-Scholze; Bernhard Zabel; Anna Köttgen; Ekkehart Lausch
Journal:  Eur J Hum Genet       Date:  2016-01-27       Impact factor: 4.246

4.  Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.

Authors:  K A Kaphingst; J Ivanovich; B B Biesecker; R Dresser; J Seo; L G Dressler; P J Goodfellow; M S Goodman
Journal:  Clin Genet       Date:  2015-05-05       Impact factor: 4.438

Review 5.  Genetic Testing in Pediatric Epilepsy.

Authors:  Tristan T Sands; Hyunmi Choi
Journal:  Curr Neurol Neurosci Rep       Date:  2017-05       Impact factor: 5.081

6.  PRECISION MEDICINE: FROM DIPLOTYPES TO DISPARITIES TOWARDS IMPROVED HEALTH AND THERAPIES.

Authors:  Dana C Crawford; Alexander A Morgan; Joshua C Denny; Bruce J Aronow; Steven E Brenner
Journal:  Pac Symp Biocomput       Date:  2018

7.  Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Authors:  Ingrid A Holm; Amy McGuire; Stacey Pereira; Heidi Rehm; Robert C Green; Alan H Beggs
Journal:  Pediatrics       Date:  2019-01       Impact factor: 7.124

8.  X-Linked Candidate Genes for a Ciliopathy-Like Disorder.

Authors:  Ashleigh R Pavey; Thierry Vilboux; Holly E Babcock; Margot Ahronovich; Benjamin D Solomon
Journal:  Mol Syndromol       Date:  2016-03-16

9.  High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

Authors:  Fengxiao Bu; Nicolo Ghiringhelli Borsa; Michael B Jones; Erika Takanami; Carla Nishimura; Jill J Hauer; Hela Azaiez; Elizabeth A Black-Ziegelbein; Nicole C Meyer; Diana L Kolbe; Yingyue Li; Kathy Frees; Michael J Schnieders; Christie Thomas; Carla Nester; Richard J H Smith
Journal:  J Am Soc Nephrol       Date:  2015-08-17       Impact factor: 10.121

10.  Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

Authors:  Shubhangi Arora; Eden Haverfield; Gabriele Richard; Susanne B Haga; Rachel Mills
Journal:  J Genet Couns       Date:  2015-08-19       Impact factor: 2.537
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