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Nature|April 19, 2008
The complete genome of an individual by massively parallel DNA sequencingDavid A Wheeler, Maithreyan Srinivasan, Michael Egholm, et al.
Genome Biology|July 10, 2008
Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RFAgathe Bourgogne, Danielle A Garsin, Xiang Qin, et al.
Plos Genetics|September 3, 2016
Whole Exome Sequencing in Atrial FibrillationSteven A Lubitz, Jennifer A Brody, Nathan A Bihlmeyer, et al.
American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.
JAMA Network Open|March 28, 2024
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology GroupBailey A Martin-Giacalone, He Li, Michael E Scheurer, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Cancer Discovery|April 27, 2013
Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic driversCurtis R Pickering, Jiexin Zhang, Suk Young Yoo, et al.
The Journal of Clinical Investigation|January 12, 2016
Molecular etiology of arthrogryposis in multiple families of mostly Turkish originYavuz Bayram, Ender Karaca, Zeynep Coban Akdemir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
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