Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Kaminska K, Cancellieri F, Quinodoz M, Moye AR, Bauwens M, Lin S, Janeschitz-Kriegl L, Hayman T, Barberán-Martínez P, Schlaeger R, Van den Broeck F, Ávila Fernández A, Fernández-Caballero L, Perea-Romero I, García-García G, Salom D, Mazzola P, Zuleger T, Poths K, Haack TB, Jacob J, Vermeer S, Terbeek F, Feltgen N, Moulin AP, Koutroumanou L, Papadakis G, Browning AC, Madhusudhan S, Gränse L, Banin E, Sousa AB, Coutinho Santos L, Kuehlewein L, De Angeli P, Leroy BP, Mahroo OA, Sedgwick F, Eden J, Pfau M, Andréasson S, Scholl HPN, Ayuso C, Millán JM, Sharon D, Tsilimbaris MK, Vaclavik V, Tran HV, Ben-Yosef T, De Baere E, Webster AR, Arno G, Sergouniotis PI, Kohl S, Santos C, Rivolta C

Open source

DOI
10.1016/j.ajhg.2025.02.015
Published
2025 Apr 3
Container
American journal of human genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ajhg.2025.02.015,
  title = {Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.},
  author = {Kaminska K and Cancellieri F and Quinodoz M and Moye AR and Bauwens M and Lin S and Janeschitz-Kriegl L and Hayman T and Barberán-Martínez P and Schlaeger R and Van den Broeck F and Ávila Fernández A and Fernández-Caballero L and Perea-Romero I and García-García G and Salom D and Mazzola P and Zuleger T and Poths K and Haack TB and Jacob J and Vermeer S and Terbeek F and Feltgen N and Moulin AP and Koutroumanou L and Papadakis G and Browning AC and Madhusudhan S and Gränse L and Banin E and Sousa AB and Coutinho Santos L and Kuehlewein L and De Angeli P and Leroy BP and Mahroo OA and Sedgwick F and Eden J and Pfau M and Andréasson S and Scholl HPN and Ayuso C and Millán JM and Sharon D and Tsilimbaris MK and Vaclavik V and Tran HV and Ben-Yosef T and De Baere E and Webster AR and Arno G and Sergouniotis PI and Kohl S and Santos C and Rivolta C},
  year = {2025},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2025.02.015},
  url = {https://doi.org/10.1016/j.ajhg.2025.02.015}
}

RIS

TY  - JOUR
TI  - Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
AU  - Kaminska K
AU  - Cancellieri F
AU  - Quinodoz M
AU  - Moye AR
AU  - Bauwens M
AU  - Lin S
AU  - Janeschitz-Kriegl L
AU  - Hayman T
AU  - Barberán-Martínez P
AU  - Schlaeger R
AU  - Van den Broeck F
AU  - Ávila Fernández A
AU  - Fernández-Caballero L
AU  - Perea-Romero I
AU  - García-García G
AU  - Salom D
AU  - Mazzola P
AU  - Zuleger T
AU  - Poths K
AU  - Haack TB
AU  - Jacob J
AU  - Vermeer S
AU  - Terbeek F
AU  - Feltgen N
AU  - Moulin AP
AU  - Koutroumanou L
AU  - Papadakis G
AU  - Browning AC
AU  - Madhusudhan S
AU  - Gränse L
AU  - Banin E
AU  - Sousa AB
AU  - Coutinho Santos L
AU  - Kuehlewein L
AU  - De Angeli P
AU  - Leroy BP
AU  - Mahroo OA
AU  - Sedgwick F
AU  - Eden J
AU  - Pfau M
AU  - Andréasson S
AU  - Scholl HPN
AU  - Ayuso C
AU  - Millán JM
AU  - Sharon D
AU  - Tsilimbaris MK
AU  - Vaclavik V
AU  - Tran HV
AU  - Ben-Yosef T
AU  - De Baere E
AU  - Webster AR
AU  - Arno G
AU  - Sergouniotis PI
AU  - Kohl S
AU  - Santos C
AU  - Rivolta C
PY  - 2025
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2025.02.015
UR  - https://doi.org/10.1016/j.ajhg.2025.02.015
ER  -

APA

K, K., F, C., M, Q., AR, M., M, B., S, L., L, J., T, H., P, B., R, S., F, V. D. B., A, Á. F., L, F., I, P., G, G., D, S., P, M., T, Z., K, P., TB, H., J, J., S, V., F, T., N, F., AP, M., L, K., G, P., AC, B., S, M., L, G., E, B., AB, S., L, C. S., L, K., P, D. A., BP, L., OA, M., F, S., J, E., M, P., S, A., HPN, S., C, A., JM, M., D, S., MK, T., V, V., HV, T., T, B., E, D. B., AR, W., G, A., PI, S., S, K., C, S., & C, R. (2025). Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.02.015

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