Literature DB >> 26872684

Next Generation Sequencing in the Clinic.

Ratna Dua Puri1.   

Abstract

Mesh：

Year:  2016        PMID： 26872684     DOI： 10.1007/s12098-016-2035-0

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


× No keyword cloud information.
  8 in total

1.  Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.

Authors:  Aneek Das Bhowmik; Ashwin B Dalal; Divya Matta; C Sundaram; Shagun Aggarwal
Journal:  Indian J Pediatr       Date:  2015-06-25       Impact factor: 1.967

2.  Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Authors:  Jong Hee Chae; Valeria Vasta; Anna Cho; Byung Chan Lim; Qing Zhang; So Hee Eun; Si Houn Hahn
Journal:  J Med Genet       Date:  2015-01-29       Impact factor: 6.318

3.  Whole-genome sequencing for optimized patient management.

Authors:  Matthew N Bainbridge; Wojciech Wiszniewski; David R Murdock; Jennifer Friedman; Claudia Gonzaga-Jauregui; Irene Newsham; Jeffrey G Reid; John K Fink; Margaret B Morgan; Marie-Claude Gingras; Donna M Muzny; Linh D Hoang; Shahed Yousaf; James R Lupski; Richard A Gibbs
Journal:  Sci Transl Med       Date:  2011-06-15       Impact factor: 17.956

4.  The usefulness of whole-exome sequencing in routine clinical practice.

Authors:  Alejandro Iglesias; Kwame Anyane-Yeboa; Julia Wynn; Ashley Wilson; Megan Truitt Cho; Edwin Guzman; Rebecca Sisson; Claire Egan; Wendy K Chung
Journal:  Genet Med       Date:  2014-06-05       Impact factor: 8.822

5.  ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

Authors: 
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Authors:  Maria Delio; Kunjan Patel; Alex Maslov; Robert W Marion; Thomas V McDonald; Evan M Cadoff; Aaron Golden; John M Greally; Jan Vijg; Bernice Morrow; Cristina Montagna
Journal:  PLoS One       Date:  2015-07-27       Impact factor: 3.240

8.  Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Authors:  Emily J Todd; Kyle S Yau; Royston Ong; Jennie Slee; George McGillivray; Christopher P Barnett; Goknur Haliloglu; Beril Talim; Zuhal Akcoren; Ariana Kariminejad; Anita Cairns; Nigel F Clarke; Mary-Louise Freckmann; Norma B Romero; Denise Williams; Caroline A Sewry; Alison Colley; Monique M Ryan; Cathy Kiraly-Borri; Padma Sivadorai; Richard J N Allcock; David Beeson; Susan Maxwell; Mark R Davis; Nigel G Laing; Gianina Ravenscroft
Journal:  Orphanet J Rare Dis       Date:  2015-11-17       Impact factor: 4.123
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.