Results 281 to 290 of about 215,860 (303)

Exome/Genome Sequencing in Undiagnosed Syndromes

Annual Review of Medicine, 2023
Jennifer A Sullivan, Kelly Schoch, Rebecca C Spillmann   +2 more
exaly  

Exome Sequencing

2017
Setia Pramana, Qi Bin Kwong, Huey Ying Heng, Nuha Hassim, Ai Ling Ong   +4 more
openaire   +1 more source

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Journal of the American Heart Association, 2020
Mathew Wallis, Ivan Macciocca, Melissa Martyn   +2 more
exaly  

Exome sequencing as a tool for Mendelian disease gene discovery

Nature Reviews Genetics, 2011
Michael J Bamshad, Sarah B nG, Abigaïl W Bigham   +2 more
exaly  

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Proceedings of the National Academy of Sciences of the United States of America, 2015
Aziz Belkadi, Alexandre Bolze, Yuval Itan   +2 more
exaly  

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Genetics in Medicine, 2015
Zoe Powis, Elizabeth C Chao, Wenqi Zeng   +2 more
exaly  

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Genetics in Medicine, 2013
Robert C Green, Jonathan S Berg, Sarah S Kalia   +2 more
exaly  

Exome Sequencing

Neeru S. Redhu, Bharat Garg, Jyoti Taunk, Vikram Singh, Jayanti Tokas, Shikha Yashveer   +5 more
openaire   +1 more source

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

American Journal of Respiratory and Critical Care Medicine, 2017
Slave Petrovski, Jamie L Todd, Michael T Durheim   +2 more
exaly  

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Genetics in Medicine, 2017
Neeta L Vora, Bradford C Powell, Alicia Brandt   +2 more
exaly