Mari Muurinen

Most-cited papers

1. Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

   Helka Göös, Christopher L. Fogarty, Biswajyoti Sahu, V. Plagnol +28 more

   2019Journal of Allergy and Clinical Immunology46 citations Open access

   Semantic Scholar

   Save

2. Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7

   K. Hannula-Jouppi, Mari Muurinen, M. Lipsanen-Nyman, Lovisa E. Reinius +3 more

   2013Epigenetics40 citations Open access

   Semantic Scholar

   Save

3. Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight

   Karoliina Wehkalampi, Mari Muurinen, S. B. Wirta, K. Hannula-Jouppi +6 more

   2013PLoS ONE28 citations Open access

   Semantic Scholar

   Save

4. Germline mutations in a G-protein identify signaling crosstalk in T cells

   Hyoungjun Ham, Huie Jing, Ian T. Lamborn, Megan M. Kober +98 more

   2024Science26 citations Open access

   Semantic Scholar

   Save

5. Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

   Mari Muurinen, K. Hannula-Jouppi, Lovisa E. Reinius, C. Söderhäll +7 more

   2017Scientific Reports11 citations Open access

   Semantic Scholar

   Save

6. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

   M. Reilly, N. Ain, Mari Muurinen, Alice Tata +14 more

   2022Journal of Bone and Mineral Research9 citations Open access

   Semantic Scholar

   Save

7. New gene discoveries in skeletal diseases with short stature

   A. Costantini, Mari Muurinen, O. Mäkitie

   2021Endocrine Connections9 citations Open access

   Semantic Scholar

   Save

8. Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

   Safeer Ahmad, M. Z. Ali, M. Muzammal, Amjad Khan +6 more

   2023Genes6 citations Open access

   Semantic Scholar

   Save

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

   Mari Muurinen, F. Taylan, S. Tournis, J. Eisfeldt +5 more

   2022JBMR Plus5 citations Open access

   Semantic Scholar

   Save

10. Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

    Petra Loid, M. Lipsanen-Nyman, S. Ala‐Mello, K. Hannula-Jouppi +3 more

    2022Frontiers in Pediatrics4 citations Open access

    Semantic Scholar

    Save

11. Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families

    Petra Loid, Fan Wang, Otto Lennartsson, Mari Muurinen +5 more

    2025Journal of Medical Genetics3 citations Open access

    Semantic Scholar

    Save

12. A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family

    L. Koponen, M. Pekkinen, Jelmer Legebeke, Mari Muurinen +5 more

    2024JBMR Plus3 citations Open access

    Semantic Scholar

    Save

13. A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

    Safeer Ahmad, Mari Muurinen, Petra Loid, M. Z. Ali +5 more

    2024Bone Reports1 citations Open access

    Semantic Scholar

    Save

14. Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.

    M. B. Shamsi, M. Z. Ali, S. Ahmad, Mari Muurinen +3 more

    2025Current Medicinal Chemistry0 citations Open access

    Semantic Scholar

    Save

15. Short stature and response to growth hormone treatment in CUL3-related neurodevelopmental disorder.

    Petra Loid, Anu Närhi, Shabir Hussain, Mari Muurinen +1 more

    2025Hormone Research in Paediatrics0 citations Open access

    Semantic Scholar

    Save

16. Silver-Russell Syndrome and Human Growth: Genetic and Epigenetic Studies

    Mari Muurinen

    20180 citations

    Semantic Scholar

    Save