Literature DB >> 29517051

Ode to the humble Southern blot in the era of exomes.

Alex R Paciorkowski1.   

Abstract

Year:  2018        PMID: 29517051      PMCID: PMC5839687          DOI: 10.1212/CPJ.0000000000000414

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


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  6 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

Review 2.  Exome sequencing as a tool for Mendelian disease gene discovery.

Authors:  Michael J Bamshad; Sarah B Ng; Abigail W Bigham; Holly K Tabor; Mary J Emond; Deborah A Nickerson; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-09-27       Impact factor: 53.242

3.  lobSTR: A short tandem repeat profiler for personal genomes.

Authors:  Melissa Gymrek; David Golan; Saharon Rosset; Yaniv Erlich
Journal:  Genome Res       Date:  2012-04-20       Impact factor: 9.043

4.  Detection of long repeat expansions from PCR-free whole-genome sequence data.

Authors:  Egor Dolzhenko; Joke J F A van Vugt; Richard J Shaw; Mitchell A Bekritsky; Marka van Blitterswijk; Giuseppe Narzisi; Subramanian S Ajay; Vani Rajan; Bryan R Lajoie; Nathan H Johnson; Zoya Kingsbury; Sean J Humphray; Raymond D Schellevis; William J Brands; Matt Baker; Rosa Rademakers; Maarten Kooyman; Gijs H P Tazelaar; Michael A van Es; Russell McLaughlin; William Sproviero; Aleksey Shatunov; Ashley Jones; Ahmad Al Khleifat; Alan Pittman; Sarah Morgan; Orla Hardiman; Ammar Al-Chalabi; Chris Shaw; Bradley Smith; Edmund J Neo; Karen Morrison; Pamela J Shaw; Catherine Reeves; Lara Winterkorn; Nancy S Wexler; David E Housman; Christopher W Ng; Alina L Li; Ryan J Taft; Leonard H van den Berg; David R Bentley; Jan H Veldink; Michael A Eberle
Journal:  Genome Res       Date:  2017-09-08       Impact factor: 9.438

Review 5.  Molecular genetic testing for hereditary ataxia: What every neurologist should know.

Authors:  Stephanie E Wallace; Thomas D Bird
Journal:  Neurol Clin Pract       Date:  2018-02

6.  Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing.

Authors:  Qian Liu; Peng Zhang; Depeng Wang; Weihong Gu; Kai Wang
Journal:  Genome Med       Date:  2017-07-18       Impact factor: 11.117

  6 in total

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