🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Outi Mäkitie

Karolinska University Hospital

ORCID: 0000-0002-4547-001X

Also affiliated with University of Helsinki, Helsinki University Hospital, Karolinska Institutet, Helsinki Children's Hospital, Folkhälsans Forskningscentrum, Hospital District of Helsinki and Uusimaa

Biochemistry, Genetics and Molecular BiologyMedicineImmunology and Microbiology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

4.6Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63132

Top 5%

4.6DataRank

Top 5%379 citations

Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder +16 more

Papers

Driven by 11 papers — median percentile 95. Top paper: “Nosology of genetic skeletal disorders: 2023 revision”.

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63132

Top 5%

4.6DataRank

Top 5%379 citations

Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder +16 more

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

N/A

0.489DataRank · unranked

25 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more

Genetic variants for head size share genes and pathways with cancer

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.15.191114

N/A

0.312DataRank · unranked

7 citations

Raymond A. Poot, Tavia E. Evans, Claudia L. Satizábal, Aniket Mishra, Sandra Van der Auwera +95 more

Increased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.02.012

N/A

0.269DataRank · unranked

5 citations

Viivi Saari, Dawit A. Yohannes, Elina Holopainen, Tiina Holster, Suvi Jokiranta +6 more

GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children

Frontiers in Pediatrics(2020)10.3389/fped.2020.00145

N/A

0DataRank · unranked

9 citations

Minna Pekkinen, Monica Reyes, Taina Mustila, Heli Viljakainen, Harald Jüppner +2 more

Reduction in mucosal‐associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN‐γ concentration

European Journal of Immunology(2024)10.1002/eji.202451189

N/A

0DataRank · unranked

3 citations

Joona Sarkkinen, Huai Hui Wong, Nelli Heikkilä, Saila Laakso, Simo Miettinen +5 more

Genetic variants for head size share genes and pathways with cancer

UNC Libraries(2024)10.17615/0jt9-4n49

N/A

0DataRank · unranked

0 citations

Vince D. Calhoun, Manabu Nagata, Raymond A. Poot, Aad van der Lugt, Svenja Caspers +95 more

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.02.486804

N/A

0DataRank · unranked

3 citations

Jan Parolek, Mads Møller Foged, Dmytro I. Danylchuk, Manuel Bozan, Bingshati Sarkar +12 more

Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations

Bone(2021)10.1016/j.bone.2021.115900

N/A

0DataRank · unranked

21 citations

Katherine Wesseling‐Perry, Riikka E. Mäkitie, Stéphane Blouin, Markus A. Hartmann, Jochen Zwerina +6 more

Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies

The Journal of Clinical Endocrinology & Metabolism(2021)10.1210/clinem/dgab705

N/A

0DataRank · unranked

16 citations

Elina Holopainen, Corrado Betterle, Viivi Saari, Elinor Vogt, Monica M. Schmitt +8 more

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

eLife(2022)10.7554/elife.79278

N/A

0DataRank · unranked

37 citations

Jan Parolek, Mads Møller Foged, Dmytro I. Danylchuk, Manuel Bozan, Bingshati Sarkar +12 more