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; Guillermo Del Angel; Francesca Barbazza; Sara Shojaei; Jessica Ebner-Jahn; Florian Högler; Erica B Nading; Erin Huggins; Eric T Rush; Ahmed El-Gazzar; Josephine T Tauer; Priya S Kishnani; Wolfgang Högler

doi:10.1093/jbmrpl/ziaf044

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, Guillermo Del Angel, Francesca Barbazza, Sara Shojaei, Jessica Ebner-Jahn, Florian Högler, Erica B Nading, Erin Huggins, Eric T Rush, Ahmed El-Gazzar, Josephine T TauerPriya S Kishnani, Wolfgang Högler

^*Corresponding author for this work

Department of Pediatrics and Adolescent Medicine

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	ziaf044
Number of pages	11
Journal	JBMR plus
Volume	9
Issue number	6
Early online date	07 Mar 2025
DOIs	https://doi.org/10.1093/jbmrpl/ziaf044
Publication status	Published - Jun 2025

Fields of science

302035 Paediatrics and adolescent medicine

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Farman, M. R., Malli, T., Rehder, C., Webersinke, G., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G. Á., Linglart, A., Ozono, K., Seefried, L., Del Angel, G., Barbazza, F., Shojaei, S., Ebner-Jahn, J., Högler, F., Nading, E. B., Huggins, E., Rush, E. T., El-Gazzar, A., ... Högler, W. (2025). The ALPL gene variant project: results of the first 100 reclassified variants. JBMR plus, 9(6), Article ziaf044. https://doi.org/10.1093/jbmrpl/ziaf044

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title = "The ALPL gene variant project: results of the first 100 reclassified variants",

author = "Farman, \{Mariam R\} and Theodora Malli and Catherine Rehder and Gerald Webersinke and Cheryl Rockman-Greenberg and Kathryn Dahir and Martos-Moreno, \{Gabriel {\'A}\} and Agn{\`e}s Linglart and Keiichi Ozono and Lothar Seefried and \{Del Angel\}, Guillermo and Francesca Barbazza and Sara Shojaei and Jessica Ebner-Jahn and Florian H{\"o}gler and Nading, \{Erica B\} and Erin Huggins and Rush, \{Eric T\} and Ahmed El-Gazzar and Tauer, \{Josephine T\} and Kishnani, \{Priya S\} and Wolfgang H{\"o}gler",

note = "{\textcopyright} The Author(s) 2025. Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research.",

year = "2025",

month = jun,

doi = "10.1093/jbmrpl/ziaf044",

language = "English",

volume = "9",

journal = "JBMR plus",

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Farman, MR, Malli, T, Rehder, C, Webersinke, G, Rockman-Greenberg, C, Dahir, K, Martos-Moreno, GÁ, Linglart, A, Ozono, K, Seefried, L, Del Angel, G, Barbazza, F, Shojaei, S, Ebner-Jahn, J , Högler, F, Nading, EB, Huggins, E, Rush, ET, El-Gazzar, A, Tauer, JT, Kishnani, PS & Högler, W 2025, 'The ALPL gene variant project: results of the first 100 reclassified variants', JBMR plus, vol. 9, no. 6, ziaf044. https://doi.org/10.1093/jbmrpl/ziaf044

TY - JOUR

T1 - The ALPL gene variant project

T2 - results of the first 100 reclassified variants

AU - Farman, Mariam R

AU - Malli, Theodora

AU - Rehder, Catherine

AU - Webersinke, Gerald

AU - Rockman-Greenberg, Cheryl

AU - Dahir, Kathryn

AU - Martos-Moreno, Gabriel Á

AU - Linglart, Agnès

AU - Ozono, Keiichi

AU - Seefried, Lothar

AU - Del Angel, Guillermo

AU - Barbazza, Francesca

AU - Shojaei, Sara

AU - Ebner-Jahn, Jessica

AU - Högler, Florian

AU - Nading, Erica B

AU - Huggins, Erin

AU - Rush, Eric T

AU - El-Gazzar, Ahmed

AU - Tauer, Josephine T

AU - Kishnani, Priya S

AU - Högler, Wolfgang

N1 - © The Author(s) 2025. Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research.

PY - 2025/6

Y1 - 2025/6

UR - https://www.scopus.com/pages/publications/105005452162

U2 - 10.1093/jbmrpl/ziaf044

DO - 10.1093/jbmrpl/ziaf044

M3 - Article

C2 - 40386289

AN - SCOPUS:105005452162

SN - 2473-4039

VL - 9

JO - JBMR plus

JF - JBMR plus

IS - 6

M1 - ziaf044

ER -

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

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