期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (5)
Isolating the causal genes from numerous genetic association signals in genome-wide association studies (GWASs) of complex phenotypes remains an open ......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (10)
Proteins containing the FERM (four-point-one, ezrin, radixin, and moesin) domain link the plasma membrane with cytoskeletal structures at specific cel......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (3)
Recent studies indicate that CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC are associated with oculopharyngodistal myopathy (OPDM) types 1, 2, ......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (2)
In recent years, exome sequencing (ES) has shown great utility in the diagnoses of Mendelian disorders. However, after rigorous filtering, a typical E......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (7)
Over the past two decades, genome-wide association studies (GWASs) have successfully advanced our understanding of the genetic basis of complex traits......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (1)
Asthenoteratozoospermia, defined as reduced sperm motility and abnormal sperm morphology, is a disorder with considerable genetic heterogeneity. Altho......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (7)
Little is known regarding the shared genetic architecture or causality underlying the phenotypic association observed for uterine leiomyoma (UL) and b......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2021; 108 (5)
Virtually all genome sequencing efforts in national biobanks, complex and Mendelian disease programs, and medical genetic initiatives are reliant upon......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2021; 108 (8)
Idiopathic achalasia (IA) is a severe motility disorder characterized by neuronal degeneration in the myenteric plexus, but the etiology remains large......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2021; 108 (8)
Multiple morphological abnormalities of the sperm flagella (MMAF)-induced asthenoteratozoospermia is a common cause of male infertility. Previous stud......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2021; 108 (4)
The fetal-to-adult hemoglobin switch is regulated in a developmental stage-specific manner and reactivation of fetal hemoglobin (HbF) has therapeutic ......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2021; 108 (4)
The development of polygenic risk scores (PRSs) has proved useful to stratify the general European population into different risk groups. However, PRS......
期刊： AMERICAN JOURNAL OF HUMAN GENETICS, 2021; 108 (5)
Non-additive genetic variance for complex traits is traditionally estimated from data on relatives. It is notoriously difficult to estimate without bi......
