Variants in CFAP410 cause a range of retinal and skeletal phenotypes

Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C. Parameswarappa, Elise Heon, Hendrik P. N. Scholl, Lucas Janeschitz-Kriegl, Elias I. Traboulsi, Wadih Zein, Brian P. Brooks, Catherine Cukras, Robert Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, Jose Sahel, Michael B. Gorin, Maria M. van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A. Everett, Paul Yang, Mark E. Pennesi

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DOI: 10.1038/s41525-025-00489-1
Published: 2025-04-17
Container: npj Genomic Medicine
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s41525-025-00489-1,
  title = {Variants in CFAP410 cause a range of retinal and skeletal phenotypes},
  author = {Ryan E. Schmidt and Amy E. Pohodich and David Birch and Kaylie Jones and Byron L. Lam and Emily H. Jung and Nieraj Jain and Michalis Georgiou and Omar A. Mahroo and Andrew R. Webster and Michel Michaelides and Benjamin Bakall and Alessandro Iannaccone and Ajoy Vincent and Deepika C. Parameswarappa and Elise Heon and Hendrik P. N. Scholl and Lucas Janeschitz-Kriegl and Elias I. Traboulsi and Wadih Zein and Brian P. Brooks and Catherine Cukras and Robert Hufnagel and Tomas S. Aleman and Mohamed M. Sylla and Stephen H. Tsang and Michelle Alabek and Jose Sahel and Michael B. Gorin and Maria M. van Genderen and Katarina Stingl and Milda Reith and Susanne Kohl and Rebeca Azevedo Souza Amaral and Juliana Maria Ferraz Sallum and Andrea L. Vincent and Sarah Hull and Jacque L. Duncan and James V. M. Hanson and Matthias Tedeus and Jordi Maggi and Urs Graf and Samuel Koller and Wolfgang Berger and Christina Gerth-Kahlert and Molly Marra and Lesley A. Everett and Paul Yang and Mark E. Pennesi},
  year = {2025},
  journal = {npj Genomic Medicine},
  doi = {10.1038/s41525-025-00489-1},
  url = {https://doi.org/10.1038/s41525-025-00489-1}
}

RIS

TY  - JOUR
TI  - Variants in CFAP410 cause a range of retinal and skeletal phenotypes
AU  - Ryan E. Schmidt
AU  - Amy E. Pohodich
AU  - David Birch
AU  - Kaylie Jones
AU  - Byron L. Lam
AU  - Emily H. Jung
AU  - Nieraj Jain
AU  - Michalis Georgiou
AU  - Omar A. Mahroo
AU  - Andrew R. Webster
AU  - Michel Michaelides
AU  - Benjamin Bakall
AU  - Alessandro Iannaccone
AU  - Ajoy Vincent
AU  - Deepika C. Parameswarappa
AU  - Elise Heon
AU  - Hendrik P. N. Scholl
AU  - Lucas Janeschitz-Kriegl
AU  - Elias I. Traboulsi
AU  - Wadih Zein
AU  - Brian P. Brooks
AU  - Catherine Cukras
AU  - Robert Hufnagel
AU  - Tomas S. Aleman
AU  - Mohamed M. Sylla
AU  - Stephen H. Tsang
AU  - Michelle Alabek
AU  - Jose Sahel
AU  - Michael B. Gorin
AU  - Maria M. van Genderen
AU  - Katarina Stingl
AU  - Milda Reith
AU  - Susanne Kohl
AU  - Rebeca Azevedo Souza Amaral
AU  - Juliana Maria Ferraz Sallum
AU  - Andrea L. Vincent
AU  - Sarah Hull
AU  - Jacque L. Duncan
AU  - James V. M. Hanson
AU  - Matthias Tedeus
AU  - Jordi Maggi
AU  - Urs Graf
AU  - Samuel Koller
AU  - Wolfgang Berger
AU  - Christina Gerth-Kahlert
AU  - Molly Marra
AU  - Lesley A. Everett
AU  - Paul Yang
AU  - Mark E. Pennesi
PY  - 2025
JO  - npj Genomic Medicine
DO  - 10.1038/s41525-025-00489-1
UR  - https://doi.org/10.1038/s41525-025-00489-1
ER  -

APA

Schmidt, R. E., Pohodich, A. E., Birch, D., Jones, K., Lam, B. L., Jung, E. H., Jain, N., Georgiou, M., Mahroo, O. A., Webster, A. R., Michaelides, M., Bakall, B., Iannaccone, A., Vincent, A., Parameswarappa, D. C., Heon, E., Scholl, H. P. N., Janeschitz-Kriegl, L., Traboulsi, E. I., Zein, W., Brooks, B. P., Cukras, C., Hufnagel, R., Aleman, T. S., Sylla, M. M., Tsang, S. H., Alabek, M., Sahel, J., Gorin, M. B., Genderen, M. M. V., Stingl, K., Reith, M., Kohl, S., Amaral, R. A. S., Sallum, J. M. F., Vincent, A. L., Hull, S., Duncan, J. L., Hanson, J. V. M., Tedeus, M., Maggi, J., Graf, U., Koller, S., Berger, W., Gerth-Kahlert, C., Marra, M., Everett, L. A., Yang, P., & Pennesi, M. E. (2025). Variants in CFAP410 cause a range of retinal and skeletal phenotypes. npj Genomic Medicine. https://doi.org/10.1038/s41525-025-00489-1

Source records

crossref · retrieved 2026-09-25T16:35:25.347Z