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O. Mäkitie · SciRah

Researcher profile · Semantic Scholar

O. Mäkitie

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O. Mäkitie — researcher profile on SciRah

h-index: 61
Works: 507
Citations: 15K

Most-cited papers

Early-Onset Osteoporosis
O. Mäkitie, M. Zillikens
2021Calcified Tissue International74 citations Open access
Semantic Scholar
Bone fragility and osteoporosis in children and young adults
M. Formosa, M. A. Christou, O. Mäkitie
2023Journal of Endocrinological Investigation59 citations Open access
Semantic Scholar
Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections
Iivo Hetemäki, Saila Laakso, H. Välimaa, Iivari Kleino +3 more
2021Clinical Immunology39 citations Open access
Semantic Scholar
Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen
A. Costantini, R. Mäkitie, Markus A. Hartmann, N. Fratzl-Zelman +4 more
2022Journal of Bone and Mineral Research38 citations Open access
Semantic Scholar
An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia
Fahad Aljuraibah, J. Bacchetta, M. Brandi, P. Florenzano +8 more
2021Journal of Bone and Mineral Research31 citations Open access
Semantic Scholar
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Tolulope Sokoya, Jan Parolek, M. M. Foged, Dmytro I Danylchuk +13 more
2022bioRxiv27 citations Open access
Semantic Scholar
An atlas of genetic determinants of forearm fracture
M. Nethander, S. Movérare-Skrtic, A. Kämpe, E. Coward +33 more
2023Nature Genetics18 citations Open access
Semantic Scholar
Bone mineral density in very low birthweight adults—A sibling study
S. Sandboge, Juho Kuula, Johan Björkqvist, P. Hovi +2 more
2022Paediatric and Perinatal Epidemiology18 citations Open access
Semantic Scholar
Serum and Urinary Osteocalcin in Healthy 7- to 19-Year-Old Finnish Children and Adolescents
P. Paldánius, K. Ivaska, O. Mäkitie, H. Viljakainen
2021Frontiers in Pediatrics17 citations Open access
Semantic Scholar
An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility
R. Mäkitie, P. Henning, Yaming Jiu, A. Kämpe +15 more
2021JBMR Plus15 citations Open access
Semantic Scholar
Lymphomas in cartilage-hair hypoplasia – A case series of 16 patients reveals advanced stage DLBCL as the most common form
H. Kukkola, P. Utriainen, P. Huttunen, M. Taskinen +2 more
2022Frontiers in Immunology14 citations Open access
Semantic Scholar
Increased risk of vertebral fractures and reduced risk of femur fractures in patients with chronic hypoparathyroidism: a nationwide cohort study in Sweden
S. Björnsdottir, W. Kamal, M. Mannstadt, O. Mäkitie +3 more
2025Journal of Bone and Mineral Research12 citations Open access
Semantic Scholar
SGMS2 in primary osteoporosis with facial nerve palsy
Sandra Pihlström, Sampo Richardt, Kirsi M. Määttä, M. Pekkinen +3 more
2023Frontiers in Endocrinology11 citations Open access
Semantic Scholar
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families
A. Costa, Andreia Martins, Catarina Machado, E. Lundberg +7 more
2023Calcified Tissue International11 citations Open access
Semantic Scholar
Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study
J. Borchers, E. Pukkala, O. Mäkitie, Saila Laakso
2023Journal of Clinical Endocrinology and Metabolism10 citations Open access
Semantic Scholar
Dental health of patients with X-linked hypophosphatemia: A controlled study
A.‐K. Larsson, Tobias Regnstrand, P. Skott, O. Mäkitie +2 more
2023Frontiers in Oral Health10 citations Open access
Semantic Scholar
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench
Dylan J. M. Bergen, A. Maurizi, M. Formosa, Georgina L. K. McDonald +16 more
2022Journal of Bone and Mineral Research10 citations Open access
Semantic Scholar
Effect of Vitamin D3 Supplementation in the First 2 Years of Life on Psychiatric Symptoms at Ages 6 to 8 Years
S. Sandboge, K. Räikkönen, M. Lahti-Pulkkinen, Helena H. Hauta-alus +6 more
2023JAMA Network Open9 citations Open access
Semantic Scholar
New gene discoveries in skeletal diseases with short stature
A. Costantini, Mari Muurinen, O. Mäkitie
2021Endocrine Connections9 citations Open access
Semantic Scholar
Dysregulated germinal centre reaction with expanded T follicular helper cells in APECED lymph nodes.
Iivo Hetemäki, Joona Sarkkinen, N. Heikkilä, Karen Drechsel +6 more
2023Journal of Allergy and Clinical Immunology8 citations Open access
Semantic Scholar
A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen
N. Landegren, N. Ishii, M. Aranda-Guillén, H. I. Gunnarsson +18 more
2021Proceedings of the National Academy of Sciences of the United States of America8 citations Open access
Semantic Scholar
Effects of a 2-Year Early Childhood Vitamin D3 Intervention on Tooth Enamel and Oral Health at Age 6–7 Years
H. Arponen, J. Waltimo-Sirén, Helena H. Hauta-alus, Mikaela Tuhkiainen +5 more
2022Hormone Research in Paediatrics7 citations Open access
Semantic Scholar
Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibility
H. Anttila, Susanna Tallqvist, Minna Muñoz, Sanna Leppäjoki-Tiistola +2 more
2021Orphanet Journal of Rare Diseases7 citations Open access
Semantic Scholar
A novel link between chronic inflammation and humanin regulation in children
Yunhan Zhao, O. Mäkitie, Saila Laakso, Vera Fedosova +2 more
2024Frontiers in Endocrinology6 citations Open access
Semantic Scholar
Increased type 1 inflammation in gynecological cervicovaginal samples in patients with APS-1.
Iivo Hetemäki, Viivi Saari, Dawit A. Yohannes, E. Holopainen +7 more
2024Journal of Allergy and Clinical Immunology6 citations Open access
Semantic Scholar
Shorter birth length and decreased T-cell production and function predict severe infections in children with non–severe combined immunodeficiency cartilage–hair hypoplasia
Eetu Pello, L. Kainulainen, Mikko S. Vakkilainen, P. Klemetti +3 more
2023Journal of Allergy and Clinical Immunology: Global6 citations Open access
Semantic Scholar
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
The human cathelicidin hCAP‐18 in serum of children with haemato‐oncological diseases
N. Jackmann, Sofia Englund, P. Frisk, O. Mäkitie +5 more
2022British Journal of Haematology6 citations Open access
Semantic Scholar
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
Petra Loid, M. Pekkinen, T. Mustila, P. Tossavainen +3 more
2022Frontiers in Genetics6 citations Open access
Semantic Scholar
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson, Julien Paccaud, M. Orefice, E. Colin +91 more
2025Journal of Clinical Investigation5 citations Open access
Semantic Scholar
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo +2 more
2023BMC Musculoskeletal Disorders5 citations Open access
Semantic Scholar
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
A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells
Sandra Pihlström, Kirsi M. Määttä, Tiina J. Öhman, R. Mäkitie +4 more
2022Frontiers in Molecular Biosciences5 citations Open access
Semantic Scholar
Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis
Petra Loid, Helena H. Hauta-alus, O. Mäkitie, P. Magnusson +1 more
2022Frontiers in Endocrinology5 citations Open access
Semantic Scholar
Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls
H. Arponen, Marjut Evälahti, O. Mäkitie
2021Frontiers in Endocrinology5 citations Open access
Semantic Scholar
The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia
Katri Rajala, S. Toiviainen-Salo, O. Mäkitie, V. Stefanovic +1 more
2024Prenatal Diagnosis4 citations Open access
Semantic Scholar
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
Svetlana Vakkilainen, Kira Ahonen, Rebecca A. Marsh, Elizabeth Secord +21 more
2024Journal of Clinical Immunology4 citations
Semantic Scholar
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
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
Body Composition in Adults Born at Very Low Birthweight—A Sibling Study
S. Sandboge, Juho Kuula, Helena H. Hauta-alus, N. Kaseva +7 more
2025Paediatric and Perinatal Epidemiology3 citations Open access
Semantic Scholar
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
Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity
Petra Loid, N. Vuorela, K. Aaltonen, Juha Kuittinen +1 more
2024Hormone Research in Paediatrics3 citations Open access
Semantic Scholar
Low-grade inflammation from prenatal period to age 6–8 years in a Vitamin D trial
Helena H. Hauta-alus, Jenni Rosendahl, Elisa M. Holmlund-Suila, Saara M Valkama +5 more
2024Pediatric Research3 citations Open access
Semantic Scholar
Variation in the fibroblast growth factor 23 (FGF23) gene associates with serum FGF23 and bone strength in infants
Maria Enlund-Cerullo, Elisa M. Holmlund-Suila, Saara M Valkama, Helena H. Hauta-alus +4 more
2023Frontiers in Genetics3 citations Open access
Semantic Scholar
Collagen X Biomarker (CXM), Linear Growth, and Bone Development in a Vitamin D Intervention Study in Infants
Helena H. Hauta-alus, Elisa M. Holmlund-Suila, Saara M Valkama, Maria Enlund-Cerullo +4 more
2022Journal of Bone and Mineral Research3 citations Open access
Semantic Scholar
Infections and demanding endocrine care contribute to increased mortality in patients with APECED.
J. Borchers, O. Mäkitie, Saila Laakso
2021European Journal of Endocrinology3 citations Open access
Semantic Scholar
Preterm birth and risk of bone fractures during childhood and early adulthood
S. Alenius, Maija E Miettinen, M. Nurhonen, Samuli Salmi +8 more
2025Journal of Bone and Mineral Research2 citations Open access
Semantic Scholar
Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome
Kirsi M. Määttä, Yu-chia Chen, Sandra Pihlström, R. Mäkitie +5 more
2025JBMR Plus2 citations Open access
Semantic Scholar
Bisphosphonate treatment for skeletal complications in paediatric cancer—Experience from a single tertiary centre
P. Utriainen, Jalmari E E Stenberg, Kim Vettenranta, O. Mäkitie
2024Acta paediatrica2 citations Open access
Semantic Scholar
Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 – A National Cohort Study
S. Laakso, Aino Häkkinen, O. Mäkitie, Saila Laakso
2024Journal of Clinical Immunology2 citations Open access
Semantic Scholar

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