Literature DB >> 21681116

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

Vi Goh1, Daniel Helbling, Vincent Biank, Jason Jarzembowski, David Dimmock.   

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Year:  2012        PMID： 21681116     DOI： 10.1097/MPG.0b013e318227e53c

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  19 in total

1.  Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.

Authors:  S Harvey Mudd; Conrad Wagner; Zigmund Luka; Sally P Stabler; Robert H Allen; Richard Schroer; Timothy Wood; Jing Wang; Lee-Jun Wong
Journal:  Mol Genet Metab       Date:  2011-11-12       Impact factor: 4.797

Review 2.  Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

Authors:  Xi Lin; Wenxue Tang; Shoeb Ahmad; Jingqiao Lu; Candice C Colby; Jason Zhu; Qing Yu
Journal:  Hear Res       Date:  2012-01-14       Impact factor: 3.208

3.  Secrets of the human genome disclosed.

Authors:  Erika Check Hayden
Journal:  Nature       Date:  2011-10-04       Impact factor: 49.962

Review 4.  Return of genetic testing results in the era of whole-genome sequencing.

Authors:  Bartha Maria Knoppers; Ma'n H Zawati; Karine Sénécal
Journal:  Nat Rev Genet       Date:  2015-08-04       Impact factor: 53.242

5.  Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.

Authors:  Brian Bennett; Daniel Helbling; Hui Meng; Jason Jarzembowski; Aron M Geurts; Marisa W Friederich; Johan L K Van Hove; Michael W Lawlor; David P Dimmock
Journal:  Free Radic Biol Med       Date:  2016-01-08       Impact factor: 7.376

Review 6.  Ataxia.

Authors:  Umar Akbar; Tetsuo Ashizawa
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

Review 7.  Next-Generation Sequencing and the Return of Results.

Authors:  Bartha Maria Knoppers; Minh Thu Nguyen; Karine Sénécal; Anne Marie Tassé; Ma'n H Zawati
Journal:  Cold Spring Harb Perspect Med       Date:  2016-10-03       Impact factor: 6.915

Review 8.  Presentation and Diagnostic Evaluation of Mitochondrial Disease.

Authors:  David P Dimmock; Michael W Lawlor
Journal:  Pediatr Clin North Am       Date:  2017-02       Impact factor: 3.278

9.  Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.

Authors:  Neil A Hanchard; David R Murdock; Pilar L Magoulas; Matthew Bainbridge; Donna Muzny; YuanQing Wu; Min Wang; James R Lupski; Richard A Gibbs; Chester W Brown
Journal:  Clin Genet       Date:  2012-09-11       Impact factor: 4.438

10.  Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.

Authors:  Kunqian Ji; Kaiming Liu; Pengfei Lin; Bing Wen; Yue-Bei Luo; Yuying Zhao; Chuanzhu Yan
Journal:  Neurol Sci       Date:  2013-10-04       Impact factor: 3.307
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