Alice Costantini

13PUBLICATIONS
21CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Haematological tumoursGenome structure and regulationOrthopaedicsEpigenetics (incl. genome methylation and epigenomics)
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Publications (13)

|Apr 08, 2025
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.

Petra Loid, Fan Wang, Otto Lennartsson

|Aug 22, 2022
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Mari Muurinen, Fulya Taylan, Symeon Tournis

|Aug 11, 2022
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

Alice Costantini, Riikka E Mäkitie, Markus A Hartmann

|Jul 14, 2021
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.

Riikka E Mäkitie, Petra Henning, Yaming Jiu

|Sep 11, 2020
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Alice Costantini, Jessica J Alm, Francesca Tonelli

|Jul 30, 2020
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.

Sini Skarp, Ji-Han Xia, Qin Zhang

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Frequent Collaborators

8 joint publications

Outi Mäkitie

4 joint publications

Riikka E Mäkitie

3 joint publications

Anders Kämpe

2 joint publications

Fulya Taylan