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116 matching publication(s)

Publication	Journal	Year	Score	Verdict
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. PMID 30675029	—	2019	93	L1 93/100
MetaMap: an atlas of metatranscriptomic reads in human disease-related RNA-seq data. PMID 29901703	Gigascience	2018	95	L1 95/100
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay. PMID 29808465	—	2018	76	L1 76/100
A cross-species approach to identify transcriptional regulators exemplified for Dnajc22 and Hnf4a. PMID 28642491	Sci Rep	2017	76	L1 76/100
Cell fixation and preservation for droplet-based single-cell transcriptomics. PMID 28526029	BMC Biol	2017	91	L1 91/100
The cold-induced lipokine 12,13-diHOME promotes fatty acid transport into brown adipose tissue PMID 28346411	Nature Medicine	2017	78	L1 78/100
Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations a PMID 27832824	Genome Biol	2016	84	L1 84/100
Exosomal microRNA miR-92a concentration in serum reflects human brown fat activity PMID 27117818	—	2016	97	L1 97/100
Cell Specific eQTL Analysis without Sorting Cells. PMID 25955312	PLoS Genet	2015	90	L1 90/100
Conservation and losses of non-coding RNAs in avian genomes. PMID 25822729	PLoS One	2015	100	L1 100/100
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. PMID 24781758	—	2015	83	L1 83/100
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm. PMID 24193348	European Journal of Human Genetics	2014	83	L1 83/100
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. PMID 20890276	—	2010	96	96/100
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development. PMID 22821884	—	2012	88	L1 88/100
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. PMID 17033964	—	2006	75	L1 75/100
nf-core/mag: a best-practice pipeline for metagenome hybrid assembly and binning. PMID 35118380	NAR Genom Bioinform	2022	100	L1 100/100