Literature DB >> 24196000

Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions.

Patricia W Mueller1, Justine Lyons, Gregory Kerr, Chad P Haase, R Benjamin Isett.   

Abstract

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Year:  2013        PMID： 24196000     DOI： 10.1038/gim.2013.119

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


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  7 in total

1.  High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.

Authors:  Qizong Lao; Brittany Brookner; Deborah P Merke
Journal:  J Mol Diagn       Date:  2019-06-21       Impact factor: 5.568

2.  Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  Qizong Lao; Marcia Des Jardin; Rahul Jayakrishnan; Monique Ernst; Deborah P Merke
Journal:  Hum Genet       Date:  2018-11-21       Impact factor: 4.132

3.  Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.

Authors:  Lucia Micale; Carmela Fusco; Marco Castori
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

4.  Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.

Authors:  Arindam Bhattacharjee; Tanya Sokolsky; Stacia K Wyman; Martin G Reese; Erik Puffenberger; Kevin Strauss; Holmes Morton; Richard B Parad; Edwin W Naylor
Journal:  Genet Med       Date:  2014-09-25       Impact factor: 8.822

Review 5.  Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Authors:  Yuan Xue; Arunkanth Ankala; William R Wilcox; Madhuri R Hegde
Journal:  Genet Med       Date:  2014-09-18       Impact factor: 8.822

6.  Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.

Authors:  Christopher N Greene; Suzanne K Cordovado; Daniel P Turner; Lisa M Keong; Dorothy Shulman; Patricia W Mueller
Journal:  Mol Genet Metab Rep       Date:  2014-08-08

7.  Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Authors:  Dale L Bodian; Elisabeth Klein; Ramaswamy K Iyer; Wendy S W Wong; Prachi Kothiyal; Daniel Stauffer; Kathi C Huddleston; Amber D Gaither; Irina Remsburg; Alina Khromykh; Robin L Baker; George L Maxwell; Joseph G Vockley; John E Niederhuber; Benjamin D Solomon
Journal:  Genet Med       Date:  2015-09-03       Impact factor: 8.822
  7 in total

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