Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians. Read more about Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.
Analysis of putative cis-regulatory elements regulating blood pressure variation. Read more about Analysis of putative cis-regulatory elements regulating blood pressure variation.
Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system. Read more about Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.
Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. Read more about Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation.
Tau/MAPT disease-associated variant A152T alters tau function and toxicity via impaired retrograde axonal transport. Read more about Tau/MAPT disease-associated variant A152T alters tau function and toxicity via impaired retrograde axonal transport.
Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study. Read more about Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. Read more about Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a. Read more about Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.
The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants. Read more about The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.
Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci. Read more about Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.
