Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Fleur S. van Dijk; Oliver Semler; Julia Etich; Anna Köhler; Juan A. Jimenez-Estrada; Nathalie Bravenboer; Lauria Claeys; Elise Riesebos; Sejla Gegic; Sander R. Piersma; Connie R. Jimenez; Quinten Waisfisz; Carmen Lisset Flores; Julian Nevado; Arjan J. Harsevoort; Guus J.M. Janus; Anton A.M. Franken; Astrid M. van der Sar; Hanne Meijers-Heijboer; Karen E. Heath; Pablo Lapunzina; Peter G.J. Nikkels; Gijs W.E. Santen; Julian Nüchel; Markus Plomann; Raimund Wagener; Mirko Rehberg; Heike Hoyer-Kuhn; Elisabeth M.W. Eekhoff; Gerard Pals; Matthias Mörgelin; Simon Newstead; Brian T. Wilson; Victor L. Ruiz-Perez; Alessandra Maugeri; Christian Netzer; Frank Zaucke; Dimitra Micha

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Fleur S. van Dijk, Oliver Semler, Julia Etich, Anna Köhler, Juan A. Jimenez-Estrada, Nathalie Bravenboer, Lauria Claeys, Elise Riesebos, Sejla Gegic, Sander R. Piersma, Connie R. Jimenez, Quinten Waisfisz, Carmen Lisset Flores, Julian Nevado, Arjan J. Harsevoort, Guus J.M. Janus, Anton A.M. Franken, Astrid M. van der Sar, Hanne Meijers-Heijboer, Karen E. HeathPablo Lapunzina, Peter G.J. Nikkels, Gijs W.E. Santen, Julian Nüchel, Markus Plomann, Raimund Wagener, Mirko Rehberg, Heike Hoyer-Kuhn, Elisabeth M.W. Eekhoff, Gerard Pals, Matthias Mörgelin, Simon Newstead, Brian T. Wilson, Victor L. Ruiz-Perez, Alessandra Maugeri, Christian Netzer, Frank Zaucke, Dimitra Micha

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

Abstract

Original language	English
Journal	American journal of human genetics
Publication status	Published - 2020

Cite this

van Dijk, F. S., Semler, O., Etich, J., Köhler, A., Jimenez-Estrada, J. A., Bravenboer, N., Claeys, L., Riesebos, E., Gegic, S., Piersma, S. R., Jimenez, C. R., Waisfisz, Q., Flores, C. L., Nevado, J., Harsevoort, A. J., Janus, G. J. M., Franken, A. A. M., van der Sar, A. M., Meijers-Heijboer, H., ... Micha, D. (2020). Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. American journal of human genetics.

van Dijk, Fleur S. ; Semler, Oliver ; Etich, Julia ; Köhler, Anna ; Jimenez-Estrada, Juan A. ; Bravenboer, Nathalie ; Claeys, Lauria ; Riesebos, Elise ; Gegic, Sejla ; Piersma, Sander R. ; Jimenez, Connie R. ; Waisfisz, Quinten ; Flores, Carmen Lisset ; Nevado, Julian ; Harsevoort, Arjan J. ; Janus, Guus J.M. ; Franken, Anton A.M. ; van der Sar, Astrid M. ; Meijers-Heijboer, Hanne ; Heath, Karen E. ; Lapunzina, Pablo ; Nikkels, Peter G.J. ; Santen, Gijs W.E. ; Nüchel, Julian ; Plomann, Markus ; Wagener, Raimund ; Rehberg, Mirko ; Hoyer-Kuhn, Heike ; Eekhoff, Elisabeth M.W. ; Pals, Gerard ; Mörgelin, Matthias ; Newstead, Simon ; Wilson, Brian T. ; Ruiz-Perez, Victor L. ; Maugeri, Alessandra ; Netzer, Christian ; Zaucke, Frank ; Micha, Dimitra. / Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. In: American journal of human genetics. 2020.

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title = "Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2",

author = "{van Dijk}, {Fleur S.} and Oliver Semler and Julia Etich and Anna K{\"o}hler and Jimenez-Estrada, {Juan A.} and Nathalie Bravenboer and Lauria Claeys and Elise Riesebos and Sejla Gegic and Piersma, {Sander R.} and Jimenez, {Connie R.} and Quinten Waisfisz and Flores, {Carmen Lisset} and Julian Nevado and Harsevoort, {Arjan J.} and Janus, {Guus J.M.} and Franken, {Anton A.M.} and {van der Sar}, {Astrid M.} and Hanne Meijers-Heijboer and Heath, {Karen E.} and Pablo Lapunzina and Nikkels, {Peter G.J.} and Santen, {Gijs W.E.} and Julian N{\"u}chel and Markus Plomann and Raimund Wagener and Mirko Rehberg and Heike Hoyer-Kuhn and Eekhoff, {Elisabeth M.W.} and Gerard Pals and Matthias M{\"o}rgelin and Simon Newstead and Wilson, {Brian T.} and Ruiz-Perez, {Victor L.} and Alessandra Maugeri and Christian Netzer and Frank Zaucke and Dimitra Micha",

year = "2020",

language = "English",

journal = "American journal of human genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

van Dijk, FS, Semler, O, Etich, J, Köhler, A, Jimenez-Estrada, JA, Bravenboer, N, Claeys, L, Riesebos, E, Gegic, S, Piersma, SR, Jimenez, CR, Waisfisz, Q, Flores, CL, Nevado, J, Harsevoort, AJ, Janus, GJM, Franken, AAM, van der Sar, AM, Meijers-Heijboer, H, Heath, KE, Lapunzina, P, Nikkels, PGJ, Santen, GWE, Nüchel, J, Plomann, M, Wagener, R, Rehberg, M, Hoyer-Kuhn, H, Eekhoff, EMW, Pals, G, Mörgelin, M, Newstead, S, Wilson, BT, Ruiz-Perez, VL, Maugeri, A, Netzer, C, Zaucke, F & Micha, D 2020, 'Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2', American journal of human genetics.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. / van Dijk, Fleur S.; Semler, Oliver; Etich, Julia; Köhler, Anna; Jimenez-Estrada, Juan A.; Bravenboer, Nathalie; Claeys, Lauria; Riesebos, Elise; Gegic, Sejla; Piersma, Sander R.; Jimenez, Connie R.; Waisfisz, Quinten; Flores, Carmen Lisset; Nevado, Julian; Harsevoort, Arjan J.; Janus, Guus J.M.; Franken, Anton A.M.; van der Sar, Astrid M.; Meijers-Heijboer, Hanne; Heath, Karen E.; Lapunzina, Pablo; Nikkels, Peter G.J.; Santen, Gijs W.E.; Nüchel, Julian; Plomann, Markus; Wagener, Raimund; Rehberg, Mirko; Hoyer-Kuhn, Heike; Eekhoff, Elisabeth M.W.; Pals, Gerard; Mörgelin, Matthias; Newstead, Simon; Wilson, Brian T.; Ruiz-Perez, Victor L.; Maugeri, Alessandra; Netzer, Christian; Zaucke, Frank; Micha, Dimitra.

In: American journal of human genetics, 2020.

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

TY - JOUR

T1 - Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

AU - van Dijk, Fleur S.

AU - Semler, Oliver

AU - Etich, Julia

AU - Köhler, Anna

AU - Jimenez-Estrada, Juan A.

AU - Bravenboer, Nathalie

AU - Claeys, Lauria

AU - Riesebos, Elise

AU - Gegic, Sejla

AU - Piersma, Sander R.

AU - Jimenez, Connie R.

AU - Waisfisz, Quinten

AU - Flores, Carmen Lisset

AU - Nevado, Julian

AU - Harsevoort, Arjan J.

AU - Janus, Guus J.M.

AU - Franken, Anton A.M.

AU - van der Sar, Astrid M.

AU - Meijers-Heijboer, Hanne

AU - Heath, Karen E.

AU - Lapunzina, Pablo

AU - Nikkels, Peter G.J.

AU - Santen, Gijs W.E.

AU - Nüchel, Julian

AU - Plomann, Markus

AU - Wagener, Raimund

AU - Rehberg, Mirko

AU - Hoyer-Kuhn, Heike

AU - Eekhoff, Elisabeth M.W.

AU - Pals, Gerard

AU - Mörgelin, Matthias

AU - Newstead, Simon

AU - Wilson, Brian T.

AU - Ruiz-Perez, Victor L.

AU - Maugeri, Alessandra

AU - Netzer, Christian

AU - Zaucke, Frank

AU - Micha, Dimitra

PY - 2020

Y1 - 2020

M3 - Article

C2 - 33053334

AN - SCOPUS:85094975571

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

ER -