Literature DB >> 26240974

Response to Nogales-Gadea et al.

Mauricio De Castro1, Leslie G Biesecker2.   

Abstract

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Year:  2015        PMID： 26240974     DOI： 10.1038/gim.2015.80

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


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  7 in total

1.  Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.

Authors:  K J Friedman; R A Heim; M R Knowles; L M Silverman
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

2.  Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Authors:  Jennifer J Johnston; Katie L Lewis; David Ng; Larry N Singh; Jamila Wynter; Carmen Brewer; Brian P Brooks; Isaac Brownell; Fabio Candotti; Steven G Gonsalves; Suzanne P Hart; Heidi H Kong; Kristina I Rother; Robert Sokolic; Benjamin D Solomon; Wadih M Zein; David N Cooper; Peter D Stenson; James C Mullikin; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2015-06-04       Impact factor: 11.025

3.  Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Authors:  Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Elena E Ganusova; Joann Mudge; Ray J Langley; Lu Zhang; Clarence C Lee; Faye D Schilkey; Vrunda Sheth; Jimmy E Woodward; Heather E Peckham; Gary P Schroth; Ryan W Kim; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2011-01-12       Impact factor: 17.956

Review 4.  McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Authors:  Gisela Nogales-Gadea; Astrid Brull; Alfredo Santalla; Antoni L Andreu; Joaquin Arenas; Miguel A Martín; Alejandro Lucia; Noemi de Luna; Tomàs Pinós
Journal:  Hum Mutat       Date:  2015-06-03       Impact factor: 4.878

5.  Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.

Authors:  Gisela Nogales-Gadea; Tomàs Pinós; Antoni L Andreu; Miguel A Martín; Joaquin Arenas; Alejandro Lucia
Journal:  Genet Med       Date:  2015-08       Impact factor: 8.822

6.  Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Authors:  Mary J Emond; Tin Louie; Julia Emerson; Wei Zhao; Rasika A Mathias; Michael R Knowles; Fred A Wright; Mark J Rieder; Holly K Tabor; Deborah A Nickerson; Kathleen C Barnes; Ronald L Gibson; Michael J Bamshad
Journal:  Nat Genet       Date:  2012-07-08       Impact factor: 38.330

7.  Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

Authors:  Mauricio De Castro; Jennifer Johnston; Leslie Biesecker
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  7 in total

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