Literature DB >> 20920669

Exome sequencing in Brown-Vialetto-van Laere syndrome.

Janel O Johnson, J Raphael Gibbs, Lionel Van Maldergem, Henry Houlden, Andrew B Singleton.   

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Year:  2010        PMID： 20920669      PMCID： PMC2948797          DOI： 10.1016/j.ajhg.2010.05.021

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

1.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

2.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

3.  Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Authors:  Peter Green; Matthew Wiseman; Yanick J Crow; Henry Houlden; Shelley Riphagen; Jean-Pierre Lin; F Lucy Raymond; Anne-Marie Childs; Eamonn Sheridan; Sian Edwards; Dragana J Josifova
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

4.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937

Review 5.  Brown-Vialetto-Van Laere syndrome.

Authors:  Sivakumar Sathasivam
Journal:  Orphanet J Rare Dis       Date:  2008-04-17       Impact factor: 4.123
  5 in total
  21 in total

Review 1.  Exome sequencing: a transformative technology.

Authors:  Andrew B Singleton
Journal:  Lancet Neurol       Date:  2011-10       Impact factor: 44.182

Review 2.  Biomedical impact of splicing mutations revealed through exome sequencing.

Authors:  Bahar Taneri; Esra Asilmaz; Terry Gaasterland
Journal:  Mol Med       Date:  2012-03-30       Impact factor: 6.354

3.  Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).

Authors:  Svetlana M Nabokina; Veedamali S Subramanian; Hamid M Said
Journal:  Mol Genet Metab       Date:  2012-01-05       Impact factor: 4.797

Review 4.  Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

Authors:  Kym M Boycott; Megan R Vanstone; Dennis E Bulman; Alex E MacKenzie
Journal:  Nat Rev Genet       Date:  2013-09-03       Impact factor: 53.242

5.  SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

Authors:  Tamilarasan Udhayabanu; Veedamali S Subramanian; Trevor Teafatiller; Vykuntaraju K Gowda; Varun S Raghavan; Perumal Varalakshmi; Hamid M Said; Balasubramaniem Ashokkumar
Journal:  Clin Chim Acta       Date:  2016-10-01       Impact factor: 3.786

Review 6.  Intestinal absorption of water-soluble vitamins in health and disease.

Authors:  Hamid M Said
Journal:  Biochem J       Date:  2011-08-01       Impact factor: 3.857

7.  Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis.

Authors:  Tamilarasan Udhayabanu; Sellamuthu Karthi; Ayyavu Mahesh; Perumal Varalakshmi; Andreea Manole; Henry Houlden; Balasubramaniem Ashokkumar
Journal:  Mol Cell Biochem       Date:  2017-08-23       Impact factor: 3.396

Review 8.  Exome sequencing greatly expedites the progressive research of Mendelian diseases.

Authors:  Xuejun Zhang
Journal:  Front Med       Date:  2014-01-03       Impact factor: 4.592

9.  Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

Authors:  Paloma González-Pérez; Yubing Lu; Ru-Ju Chian; Peter C Sapp; Rudolph E Tanzi; Lars Bertram; Diane McKenna-Yasek; Fen-Biao Gao; Robert H Brown
Journal:  Neurobiol Dis       Date:  2012-07-03       Impact factor: 5.996

10.  SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

Authors:  Atsushi Intoh; Naoki Suzuki; Kathryn Koszka; Kevin Eggan
Journal:  Hum Mol Genet       Date:  2016-03-13       Impact factor: 6.150
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