scholarly journals Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

2010 ◽  
Vol 362 (13) ◽  
pp. 1181-1191 ◽  
Author(s):  
James R. Lupski ◽  
Jeffrey G. Reid ◽  
Claudia Gonzaga-Jauregui ◽  
David Rio Deiros ◽  
David C.Y. Chen ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Charcot Marie Tooth

scholarly journals Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

PLoS Genetics ◽  
2016 ◽  
Vol 12 (7) ◽  
pp. e1006177 ◽  
Author(s):  
Megan H. Brewer ◽  
Rabia Chaudhry ◽  
Jessica Qi ◽  
Aditi Kidambi ◽  
Alexander P. Drew ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Chromosome 8 ◽  
Whole Genome ◽  
Charcot Marie Tooth

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

2018 ◽  
Author(s):  
Mark Stevenson ◽  
Alistair T Pagnamenta ◽  
Heather G Mack ◽  
Judith A Savige ◽  
Kate E Lines ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Complex Disorders ◽  
Tubular Disorders ◽  
Renal Tubular Disorders ◽  
Renal Tubular
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