Literature DB >> 23065473

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.

Yongguo Yu1, Bai-lin Wu, Jie Wu, Yiping Shen.   

Abstract

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Year:  2012        PMID： 23065473     DOI： 10.1373/clinchem.2012.193128

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  12 in total

1.  Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Authors:  Ginevra Zanni; Chiara Scotton; Chiara Passarelli; Mingyan Fang; Sabina Barresi; Bruno Dallapiccola; Bin Wu; Francesca Gualandi; Alessandra Ferlini; E Bertini; Wang Wei
Journal:  Neurogenetics       Date:  2013-08-24       Impact factor: 2.660

2.  The incorporation of predictive genomic testing into genetic counseling programs.

Authors:  Ryan Noss; Rachel Mills; Nancy Callanan
Journal:  J Genet Couns       Date:  2014-03-02       Impact factor: 2.537

Review 3.  Genome sequencing in the clinic: the past, present, and future of genomic medicine.

Authors:  Jeremy W Prokop; Thomas May; Kim Strong; Stephanie M Bilinovich; Caleb Bupp; Surender Rajasekaran; Elizabeth A Worthey; Jozef Lazar
Journal:  Physiol Genomics       Date:  2018-05-04       Impact factor: 3.107

4.  Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.

Authors:  Zhen-Fang DU; Peng-Fei Li; Jian-Qiang Zhao; Zhi-Lie Cao; Feng Li; Ju-Ming Ma; Xiao-Ping Qi
Journal:  J Biosci       Date:  2017-06       Impact factor: 1.826

Review 5.  Integration of cancer genomics with treatment selection: from the genome to predictive biomarkers.

Authors:  Thomas J Ow; Vlad C Sandulache; Heath D Skinner; Jeffrey N Myers
Journal:  Cancer       Date:  2013-08-20       Impact factor: 6.860

6.  The genetic basis of DOORS syndrome: an exome-sequencing study.

Authors:  Philippe M Campeau; Dalia Kasperaviciute; James T Lu; Lindsay C Burrage; Choel Kim; Mutsuki Hori; Berkley R Powell; Fiona Stewart; Têmis Maria Félix; Jenneke van den Ende; Marzena Wisniewska; Hülya Kayserili; Patrick Rump; Sheela Nampoothiri; Salim Aftimos; Antje Mey; Lal D V Nair; Michael L Begleiter; Isabelle De Bie; Girish Meenakshi; Mitzi L Murray; Gabriela M Repetto; Mahin Golabi; Edward Blair; Alison Male; Fabienne Giuliano; Ariana Kariminejad; William G Newman; Sanjeev S Bhaskar; Jonathan E Dickerson; Bronwyn Kerr; Siddharth Banka; Jacques C Giltay; Dagmar Wieczorek; Anna Tostevin; Joanna Wiszniewska; Sau Wai Cheung; Raoul C Hennekam; Richard A Gibbs; Brendan H Lee; Sanjay M Sisodiya
Journal:  Lancet Neurol       Date:  2013-11-29       Impact factor: 44.182

7.  Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate.

Authors:  Timothy Caulfield; Jim Evans; Amy McGuire; Christopher McCabe; Tania Bubela; Robert Cook-Deegan; Jennifer Fishman; Stuart Hogarth; Fiona A Miller; Vardit Ravitsky; Barbara Biesecker; Pascal Borry; Mildred K Cho; June C Carroll; Holly Etchegary; Yann Joly; Kazuto Kato; Sandra Soo-Jin Lee; Karen Rothenberg; Pamela Sankar; Michael J Szego; Pilar Ossorio; Daryl Pullman; Francois Rousseau; Wendy J Ungar; Brenda Wilson
Journal:  PLoS Biol       Date:  2013-11-05       Impact factor: 8.029

8.  MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Authors:  Marco Savarese; Giuseppina Di Fruscio; Margherita Mutarelli; Annalaura Torella; Francesca Magri; Filippo Maria Santorelli; Giacomo Pietro Comi; Claudio Bruno; Vincenzo Nigro
Journal:  Acta Neuropathol Commun       Date:  2014-09-11       Impact factor: 7.801

9.  Targeted resequencing and variant validation using pxlence PCR assays.

Authors:  Frauke Coppieters; Kimberly Verniers; Kim De Leeneer; Jo Vandesompele; Steve Lefever
Journal:  Biomol Detect Quantif       Date:  2015-10-09

10.  Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Authors:  Lin Yang; Zixiu Li; Mei Mei; Xiaomei Fan; Guodong Zhan; Huijun Wang; Guoying Huang; Mingbang Wang; Weidong Tian; Wenhao Zhou
Journal:  BMC Med Genet       Date:  2017-07-19       Impact factor: 2.103
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