Associated Papers
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
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Ebiomedicine, 2024
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Supplement: mmc1.xlsx › Supp_Table_2
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
Orenstein N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.
Tanisawa K et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017
27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S3
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Taylan F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.
Duan J et al.
Scientific Reports, 2013
23422947 (PubMed )
Supplement: srep01318-s2.xls › S7
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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