Rivadeneira F

Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.

Medina-Gomez C, Mullin BH, Chesi A, ..., Kague E, Rivadeneira F

Commun Biol 6 (1) 691 [2023-07-04; online 2023-07-04]

Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]

Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.

Winkler TW, Rasheed H, Teumer A, ..., Pattaro C, Heid IM

Commun Biol 5 (1) 580 [2022-06-13; online 2022-06-13]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.

Mäkitie RE, Henning P, Jiu Y, ..., Lappalainen P, Mäkitie O

JBMR Plus 5 (7) e10509 [2021-07-00; online 2021-06-07]

Bioinformatics Support for Computational Resources [Service]

Associations of autozygosity with a broad range of human phenotypes.

Clark DW, Okada Y, Moore KHS, ..., Kubo M, Wilson JF

Nat Commun 10 (1) 4957 [2019-10-31; online 2019-10-31]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Wuttke M, Li Y, Li M, ..., Köttgen A, Pattaro C

Nat. Genet. 51 (6) 957-972 [2019-06-00; online 2019-05-31]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]