An Association of SLC2A9 variant rs7442295 with Uric Acid at Baseline and in Interaction with Iloperidone
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility
TET2 and clonal hematopoiesis-related gene variants in patients with acquired pure red cell aplasia
RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
Redefining copy number variation and single-nucleotide polymorphism counting via novel concepts based on recent PCR enhancements.
Precision Diagnosis of Chronic Kidney Disease: Genetics Makes the Difference
Decoding Complex Inherited Phenotypes in Rare Disorders: The DECIPHERD initiative for rare undiagnosed diseases in Chile.
WES-based Screening for Every Newborn - the Future is Now
Curated incidence of lysosomal storage diseases from the Taiwan Biobank
Sleep Traits and Autism Spectrum Disorder: A Two-sample Mendelian Randomization Study