期刊： CLINICAL GENETICS, 2022; 102 (2)
The pathogenic variants in KCNQ4 cause DFNA2 nonsyndromic hearing loss. However, the understanding of genotype-phenotype correlations between KCNQ4 an......
期刊： CLINICAL GENETICS, 2022; 101 (1)
Genome-wide association study (GWAS) have identified more than 300 single nucleotide polymorphisms at 163 independent loci associated with coronary ar......
期刊： CLINICAL GENETICS, 2022; 101 (2)
The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by bial......
期刊： CLINICAL GENETICS, 2022; 101 (1)
Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorde......
期刊： CLINICAL GENETICS, 2022; 101 (4)
Neural tube defects (NTDs) are the most severe birth defects and the main cause of newborn death; posing a great challenge to the affected children, f......
期刊： CLINICAL GENETICS, 2022; 101 (3)
Myeloproliferative syndromes (MPS) are hematologic malignancies due to the expansion of an abnormal hematopoietic stem cell. They include chronic myel......
期刊： CLINICAL GENETICS, 2022; 102 (2)
An equitable approach by the American College of Medical Genetics and Genomics (ACMG) has recently recommended carrier screening for genes associated ......
期刊： CLINICAL GENETICS, 2022; 102 (1)
A female factor is present in approximately 70% of couple infertility, often due to ovulatory disorders. In oocyte maturation defect (OMD), affected p......
期刊： CLINICAL GENETICS, 2022; 102 (4)
Familial Dysbetalipoproteinemia (FD) is the second most common monogenic dyslipidemia and is associated with a very high cardiovascular risk due to ch......
期刊： CLINICAL GENETICS, 2022; 102 (5)
22q11.2 deletion is one of the most well-known copy number variants (CNVs) associated with developing a psychiatric condition (e.g., schizophrenia), b......
期刊： CLINICAL GENETICS, 2022; 102 (6)
Dehydrated hereditary stomatocytosis (DHS) (MIM#194380) is a rare autosomal dominant disorder of red blood cell permeability, characterized by a parti......
期刊： CLINICAL GENETICS, 2022; 102 (5)
Early onset drusen maculopathy (EODM) can lead to advanced macular degeneration at a young age, affecting quality of life. However, the genetic causes......
期刊： CLINICAL GENETICS, 2022; 102 (5)
Marfan syndrome (MFS) is a connective tissue disorder affecting the cardiovascular, ocular, and skeletal system, which may be accompanied by psycholog......
期刊： CLINICAL GENETICS, 2022; 101 (3)
Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness and spasticity......
期刊： CLINICAL GENETICS, 2022; 101 (3)
Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause variou......
