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2023
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment
Human Molecular Genetics
2023
A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant
Clinical Pediatric Endocrinology
2022
Low carnitine palmitoyltransferase 1 activity is a risk factor for narcolepsy type 1 and other hypersomnia
Sleep
2020
Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases
BMC Medical Genomics
2019
Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes
Nature Communications
2019
Integrative genome analysis identified the KANNO blood group antigen as prion protein
Transfusion
2019
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration
Nature Communications
2019
Genetics of narcolepsy
Human Genome Variation
2018
A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia
Journal of Human Genetics
2018
Genetic Variants Associated With Obesity and Insulin Resistance in Hispanic Boys With Nonalcoholic Fatty Liver Disease
Journal of Pediatric Gastroenterology and Nutrition
2017
Sleep and Neurologic Disease
2017
Evolutionary adaptation revealed by comparative genome analysis of woolly mammoths and elephants
DNA Research
2016
Evaluation of polygenic risks for narcolepsy and essential hypersomnia
Journal of Human Genetics
2015
Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood
PLOS Genetics
2015
Central Disorders of Hypersomnolence
Chest
2014
An eQTL analysis of the human glioblastoma multiforme genome
Genomics
2014
Reversal of CD8 T-Cell–Mediated Mucocutaneous Graft-Versus-Host-Like Disease by the JAK Inhibitor Tofacitinib
Journal of Investigative Dermatology
2014
Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population
Journal of Human Genetics
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