Evidence map›Paper›PMID 40386289›Full record

ArticleJBMR plus2025

The ALPL gene variant project: results of the first 100 reclassified variants.

Mariam R Farman, Theodora Malli, Catherine Rehder, Gerald Webersinke, Cheryl Rockman-Greenberg, Kathryn Dahir, Gabriel Á Martos-Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried and 12 more

Abstract read
In one paragraph

Article in JBMR plus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026
    Article
  2. Article
  3. Review
  4. Functional andCells · 2025
    Article
  5. Revisiting the Genetics of Hypophosphatasia.Journal of inherited metabolic disease · 2025
    Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Mariam R FarmanDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0000-0002-4419-8421
Theodora MalliLaboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Seilerstätte 4, 4010 Linz, Austria.ORCID https://orcid.org/0000-0003-4244-7954
Catherine RehderDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham NC 27705, United States.ORCID https://orcid.org/0000-0003-4924-9010
Gerald WebersinkeLaboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Seilerstätte 4, 4010 Linz, Austria.ORCID https://orcid.org/0000-0001-5654-6190
Cheryl Rockman-GreenbergDepartment of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg R3a 1s1, Canada.ORCID https://orcid.org/0000-0002-4741-8442
Kathryn DahirVanderbilt University Medical Center, Program for Metabolic Bone Disorders, Nashville, TN 37232, United States.ORCID https://orcid.org/0000-0002-9980-9138
Gabriel Á Martos-MorenoDepartments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, IIS La Princesa, 28009 Madrid, Spain.ORCID https://orcid.org/0000-0001-5524-2646
Agnès LinglartParis Saclay University, INSERM, AP-HP, Bicêtre Paris-Saclay Hospital, 94270 Le Kremlin-Bicêtre, France.ORCID https://orcid.org/0000-0003-3455-002X
Keiichi OzonoISEIKAI International General Hospital, 530-0052 Osaka, Japan.ORCID https://orcid.org/0000-0002-6517-8825
Lothar SeefriedJulius-Maximilian University, 97074 Würzburg, Germany.ORCID https://orcid.org/0000-0003-1154-3388
Guillermo Del AngelCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Boston, MA 02210, United States.ORCID https://orcid.org/0000-0002-0104-1563
Francesca BarbazzaDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0009-0008-4288-8534
Sara ShojaeiDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0009-0004-5435-9155
Jessica Ebner-JahnDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0000-0002-4606-6051
Florian HöglerDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0009-0009-4752-5457
Erica B NadingDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham NC 27705, United States.ORCID https://orcid.org/0009-0000-9468-4893
Erin HugginsDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham NC 27705, United States.ORCID https://orcid.org/0000-0002-7594-4511
Eric T RushDivision of Clinical Genetics, Children's Mercy Hospital Kansas City, Kansas City, MO 64108, United States.ORCID https://orcid.org/0000-0002-8147-7315
Ahmed El-GazzarDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0000-0002-2859-7246
Josephine T TauerDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0000-0002-6079-4653
Priya S KishnaniDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham NC 27705, United States.ORCID https://orcid.org/0000-0001-8251-909X
Wolfgang HöglerDepartment of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.ORCID https://orcid.org/0000-0003-4328-6304

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (

Indexed as

ACMGalkaline phosphatasehypophosphatasiareclassificationricketsvitamin b6

Identifiers

PMID40386289
PMCPMC12083982

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.