Results 331 to 340 of about 237,110 (353)

Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

Nature Medicine, 2021
Joseph Park, Xinyuan Zhang, Kumardeep Chaudhary   +2 more
exaly  

Exome Sequencing and Clinical Diagnosis

JAMA, 2020
Jan M, Friedman, Kenneth Lyons, Jones, John C, Carey   +2 more
openaire   +2 more sources

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Nature Genetics, 2022
Henne Holstege, Marc Hulsman, Olivier Quenez   +2 more
exaly  

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Nature Medicine, 2020
Sheng Chih Jin, Weilai Dong, Adam J Kundishora   +2 more
exaly  

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

Nature Genetics, 2022
Duncan S Palmer, Daniel P Howrigan, Sinéad B Chapman   +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

Exome sequencing as a tool for Mendelian disease gene discovery

Nature Reviews Genetics, 2011
Michael J Bamshad, Holly K Tabor, Jay Shendure   +2 more
exaly  

Using exomes better

European Journal of Human Genetics
openaire   +2 more sources

Exome sequencing of Finnish isolates enhances rare-variant association power

Nature, 2019
Adam E Locke, Karyn Meltz Steinberg, Aki S Havulinna   +2 more
exaly  

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Science, 2015
Elizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski   +2 more
exaly