期刊： GENETICS IN MEDICINE, 2022; 24 (5)
Purpose: The etiology for a considerable proportion of patients with congenital radioulnar synostosis (RUS) remains unclear. This study aimed to inves......
期刊： GENETICS IN MEDICINE, 2022; 24 (11)
Purpose: The genetic causes of oocyte maturation arrest leading to female infertility are largely unknown, and no population-based genetic analysis ha......
期刊： GENETICS IN MEDICINE, 2022; 24 (6)
Purpose: Macular degeneration is the leading cause of blindness worldwide. In this study, we aimed to define a new subtype of macular-retinal dystroph......
期刊： GENETICS IN MEDICINE, 2022; 24 (11)
Purpose: This study aimed to investigate the spectrum and characteristics of segmental aneuploidies (SAs) of 10 megabase (Mb) length in human preimpla......
期刊： GENETICS IN MEDICINE, 2022; 24 (4)
Purpose: This study aimed to quantitatively assess the incidence of hearing loss in relation to age in individuals with biallelic p.V37I variant in GJ......
期刊： GENETICS IN MEDICINE, 2022; 24 (8)
Purpose: The study aimed to investigate the role of PABPC1 in developmental delay (DD). Methods: Children were examined by geneticists and pediatricia......
期刊： GENETICS IN MEDICINE, 2022; 24 (11)
Purpose: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus, cervix, and the upper part of the vagin......
期刊： GENETICS IN MEDICINE, ; ()
Purpose Ciliopathies are a group of disorders caused by defects of the cilia. Joubert syndrome (JBTS) is a recessive and pleiotropic ciliopathy that c......
期刊： GENETICS IN MEDICINE, ; ()
Purpose Absence of heterozygosity (AOH) is a genetic characteristic known to cause human genetic disorders through autosomal recessive or imprinting m......
期刊： GENETICS IN MEDICINE, ; ()
Purpose We describe a novel neurobehavioral phenotype of autism spectrum disorder (ASD), intellectual disability, and/or attention-deficit/hyperactivi......
期刊： GENETICS IN MEDICINE, ; ()
PURPOSE: Pathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports of genotype-phenotype correlations are often anecdo......
期刊： GENETICS IN MEDICINE, ; ()
Purpose To examine the overall genomic copy-number variant (CNV) landscape of Chinese pediatric patients with developmental disorders. Methods De-iden......
期刊： GENETICS IN MEDICINE, 2020; 22 (10)
Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with canc......
