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Journal of Medical Genetics|July 9, 2009
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani, F Zhang, O A Shchelochkov, et al.Nature Microbiology|July 27, 2023
A predicted CRISPR-mediated symbiosis between uncultivated archaeaSarah P Esser, Janina Rahlff, Weishu Zhao, et al.Plos Genetics|December 17, 2009
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxinMelissa K Boles, Bonney M Wilkinson, Laurens G Wilming, et al.Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.Genome Biology|September 16, 2011
Mutation discovery in mice by whole exome sequencingHeather Fairfield, Griffith J Gilbert, Mary Barter, et al.Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.Proceedings of the National Academy of Sciences of the United States of America|February 28, 2018
Transitory microbial habitat in the hyperarid Atacama DesertDirk Schulze-Makuch, Dirk Wagner, Samuel P Kounaves, et al.Nature|February 14, 2020
Clades of huge phages from across Earth's ecosystemsBasem Al-Shayeb, Rohan Sachdeva, Lin-Xing Chen, et al.Nature Communications|July 16, 2026
Diversity and distinctive characteristics of the global RNA virome in urban and peri-urban environmentsZihao Gao, Jun Wu, Alexander G Lucaci, et al.Pageof 22