期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (10)
Silver-Russel syndrome (SRS) is a representative imprinting disorder (ID) characterized by growth failure and diagnosed by clinical features. Recently......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (6)
Endometriosis is a benign gynecologic condition, acting as a precursor of certain histological subtypes of ovarian cancers. The epithelial cells of en......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (6)
Pathogenic Variants (PV) in major cancer predisposition genes are only identified in approximately 10% of patients with Hereditary Breast and Ovarian ......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (6)
Background and aims Some hereditary transthyretin (ATTRv) amyloidosis patients are misdiagnosed as Charcot-Marie-Tooth disease (CMT) at onset. We asse......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (2)
Despite the dramatic underrepresentation of non-European populations in human genetics studies, researchers continue to exclude participants of non-Eu......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (10)
In June 2019, the Japanese National Health Insurance (NHI) system introduced coverage for two types of tumor genomic profiling (TGP): FoundationOne(CI......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (8)
As a promising diagnostic and prognostic biomarker for Alzheimer's Disease (AD), plasma p-tau181 is robustly differentiated AD dementia from non-AD ne......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (9)
Epigenetics play an essential role in colorectal neoplasia process. There is a need to determine the appropriateness of epigenetic biomarkers for earl......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (3)
High-throughput DNA sequencing provides not only primary diagnosis but also makes available other genetic variants with potential health implications.......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (7)
Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results i......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (8)
Human Immunodeficiency Virus (HIV) infection dynamics is strongly influenced by the host genetic background. NKG2C is an activating receptor expressed......
期刊： JOURNAL OF HUMAN GENETICS, 2022; 67 (1)
Biallelic pathogenic variants of OTUD6B have recently been described to cause intellectual disability (ID) with seizures. Here, we report the clinical......
