Gene regulation by antitumor miR-130b-5p in pancreatic ductal adenocarcinoma: the clinical significance of oncogenic EPS8
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0584-6
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0667-4
Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia
来源期刊:Journal of human geneticsDOI:10.1038/s10038-019-0686-1
A new era of long-read sequencing for cancer genomics
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0658-5
Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0568-6
ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0573-9
Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0562-z
NDUFS6 related Leigh syndrome: a case report and review of the literature
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0594-4
Genome-wide association study of blood lipids in Indians confirms universality of established variants
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0591-7
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0585-5
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0592-6
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0666-5
Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0609-1
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0707-0
MicroRNA-370 functions as a tumor suppressor in hepatocellular carcinoma via inhibition of the MAPK/JNK signaling pathway by targeting BEX2
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0653-x
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0596-2
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype–phenotype relationships
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0696-z
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0599-z
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0560-1
A missense variant in PER2 is associated with delayed sleep–wake phase disorder in a Japanese population
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0665-6
Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0639-8
Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0677-2
Previously undescribed thyroid-specific miRNA sequences in papillary thyroid carcinoma
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0583-7
Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0662-9
Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA–VPS9D1 fusion transcripts in a Fanconi anemia patient
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0629-x
IRAK2 and TLR10 confer risk of Hashimoto’s disease: a genetic association study based on the Han Chinese population
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0613-5
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0570-z
Solid-state nanopores towards single-molecule DNA sequencing
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0655-8
Molecular genealogy of Tusi Lu’s family reveals their paternal relationship with Jochi, Genghis Khan’s eldest son
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0618-0
Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0700-7
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0680-7
Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0672-7
A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0575-7
Computational identification and analysis of early diagnostic biomarkers for kidney cancer
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0640-2
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0712-3
Cyclooxygenase-2 haplotypes influence the longitudinal risk of malaria and severe malarial anemia in Kenyan children from a holoendemic transmission region
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0692-3
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0706-1
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0581-9
Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0681-6
Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0636-y
Attitude and perceptions toward miscarriage: a survey of a general population in Japan
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0694-1
Visualization tools for human structural variations identified by whole-genome sequencing
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0687-0
Genome-wide association meta-analysis for total thyroid hormone levels in Croatian population
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0586-4
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0690-5
The associations between three genome-wide risk variants for serum C-peptide of T1D and autoantibody-positive T1D risk, and clinical characteristics in Chinese population
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0705-2
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0668-3
Investigating the role of genetic counseling in neuromuscular disease considering life events
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0590-8
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0610-8
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0693-2
Complete genome and bimodal genomic structure of the amoebal symbiont Neochlamydia strain S13 revealed by ultra-long reads obtained from MinION
来源期刊:Journal of Human GeneticsDOI:10.1038/s10038-019-0684-3