Mäkitie O

Family name	Mäkitie
Given name	Outi
Initials	O
ORCID	ORCID 0000-0002-4547-001X
Affiliations	Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. Folkhälsan Institute of Genetics, Helsinki, Finland.

4 publications

PubMed DOI Crossref

An atlas of genetic determinants of forearm fracture.

Nethander M, Movérare-Skrtic S, Kämpe A, ..., Richards JB, Ohlsson C

Nat. Genet. 55 (11) 1820-1830 [2023-11-00; online 2023-11-02]

Clinical Genomics Gothenburg [Collaborative]

PubMed DOI Crossref

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Muurinen M, Taylan F, Tournis S, ..., Mäkitie O, Costantini A

JBMR Plus 6 (8) e10660 [2022-08-00; online 2022-07-05]

NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

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]

PubMed DOI Crossref

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, ..., Tümer Z, Lindstrand A

PLoS Genet. 14 (11) e1007780 [2018-11-00; online 2018-11-12]

NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

SciLifeLab Data Centre

Publications 9.5.1