Costantini A

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]

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]

Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.

Ain NU, Baroncelli M, Costantini A, ..., Mäkitie O, Naz S

J. Med. Genet. 58 (5) 351-356 [2021-05-00; online 2020-06-26]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]