Literature DB >> 24651604

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.

Matthew Might1, Matt Wilsey2.   

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Year:  2014        PMID： 24651604     DOI： 10.1038/gim.2014.23

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


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  37 in total

Review 1.  The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Authors:  Tony Shen; Ariel Lee; Carol Shen; C Jimmy Lin
Journal:  Genet Res (Camb)       Date:  2015-09-14       Impact factor: 1.588

2.  The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Authors:  Rachel B Ramoni; John J Mulvihill; David R Adams; Patrick Allard; Euan A Ashley; Jonathan A Bernstein; William A Gahl; Rizwan Hamid; Joseph Loscalzo; Alexa T McCray; Vandana Shashi; Cynthia J Tifft; Anastasia L Wise
Journal:  Am J Hum Genet       Date:  2017-02-02       Impact factor: 11.025

Review 3.  Neurological aspects of human glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Annu Rev Neurosci       Date:  2015-04-02       Impact factor: 12.449

4.  GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.

Authors:  Brianne E Kirkpatrick; Erin Rooney Riggs; Danielle R Azzariti; Vanessa Rangel Miller; David H Ledbetter; David T Miller; Heidi Rehm; Christa Lese Martin; W Andrew Faucett
Journal:  Hum Mutat       Date:  2015-08-06       Impact factor: 4.878

5.  2014 Presidential Address: The time of our lives.

Authors:  Cynthia Casson Morton
Journal:  Am J Hum Genet       Date:  2015-03-05       Impact factor: 11.025

Review 6.  Embracing human genetics: a primer for developmental biologists.

Authors:  Elizabeth J Leslie
Journal:  Development       Date:  2020-07-02       Impact factor: 6.868

Review 7.  Next generation sequencing and the future of genetic diagnosis.

Authors:  Katja Lohmann; Christine Klein
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 8.  Discovery of mutations for Mendelian disorders.

Authors:  Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-04-11       Impact factor: 4.132

9.  Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Authors:  Michael J Bamshad; Deborah A Nickerson; Jessica X Chong
Journal:  Am J Hum Genet       Date:  2019-09-05       Impact factor: 11.025

10.  A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.

Authors:  Katherine B Howell; Stefanie Eggers; Kim Dalziel; Jessica Riseley; Simone Mandelstam; Candace T Myers; Jacinta M McMahon; Amy Schneider; Gemma L Carvill; Heather C Mefford; Ingrid E Scheffer; A Simon Harvey
Journal:  Epilepsia       Date:  2018-05-11       Impact factor: 5.864
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