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27 matching publication(s)

Publication	Journal	Year	Score	Verdict
Shiny-Calorie: a context-aware application for indirect calorimetry data analysis and visualization using R. PMID 41640623	Bioinformatics advances	2026	100	L1 100/100
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. PMID 10025409	Cell	1999	88	L1 88/100
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome PMID 41729082	—	2026	89	L1 89/100
Distinct sympathetic projections to brown fat regulate thermogenesis and glucose tolerance. PMID 41559445	Nat Metab	2026	85	L1 85/100
Purinergic adipocyte-macrophage crosstalk promotes degeneration of thermogenic brown adipose tissue PMID 41261284	—	2025	78	L1 78/100
Single-nucleus mRNA-sequencing reveals dynamics of lipogenic and thermogenic adipocyte populations in murine brown adipose tissue in response to cold exposure. PMID 40945691	Mol Metab	2025	93	L1 93/100
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis PMID 40963120	Genome Medicine	2025	88	L1 88/100
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings PMID 40555819	Nature Genetics (Author Correction 2025; orig 2024;56:1644)	2025	76	L1 76/100
Covalent binding of thioredoxin to TXNIP is required for diet-induced insulin resistance in the liver. PMID 40345590	J Biol Chem	2025	87	L1 87/100
NK2R control of energy expenditure and feeding to treat metabolic diseases. PMID 39537932	Nature	2024	87	L1 87/100
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors PMID 39256359	—	2024	87	L1 87/100
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi PMID 39039281	Nat Genet	2024	87	L1 87/100
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use PMID 38167725	Nature Communications	2024	94	L1 94/100
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. PMID 36414417	—	2023	85	L1 85/100
Prediction of Antibiotic Susceptibility Profiles of Vibrio cholerae Isolates From Whole Genome Illumina and Nanopore Sequencing Data: CholerAegon. PMID 35814690	Front Microbiol	2022	86	L1 86/100
Cold-Induced Lipoprotein Clearance in Cyp7b1-Deficient Mice PMID 35478959	—	2022	83	L1 83/100
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype. PMID 35296718	—	2022	84	L1 84/100
Estimation of peptide elongation times from ribosome profiling spectra. PMID 33885812	Nucleic Acids Res	2021	76	L1 76/100
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage. ⚑ PMID 32367296	—	2020	78	78/100 ⚑
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. PMID 31044419	Clinical Genetics	2019	78	L1 78/100
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
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
Exosomal microRNA miR-92a concentration in serum reflects human brown fat activity PMID 27117818	—	2016	97	L1 97/100
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
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