De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Ołdak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Eddera J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stingl K, Suga A, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, van Aerschot J, van den Born LI, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Cremers FPM, Lee W, Ellingford JM, Stanek D, Rivolta C, Roosing S

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DOI
10.1101/2025.01.06.24317169
Published
2025 Jan 6
Container
medRxiv : the preprint server for health sciences
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1101/2025.01.06.24317169,
  title = {De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.},
  author = {Quinodoz M and Rodenburg K and Cvackova Z and Kaminska K and de Bruijn SE and Iglesias-Romero AB and Boonen EGM and Ullah M and Zomer N and Folcher M and Bijon J and Holtes LK and Tsang SH and Corradi Z and Freund KB and Shliaga S and Panneman DM and Hitti-Malin RJ and Ali M and AlTalbishi A and Andréasson S and Ansari G and Arno G and Astuti GDN and Ayuso C and Ayyagari R and Banfi S and Banin E and Barboni MTS and Bauwens M and Ben-Yosef T and Birch DG and Biswas P and Blanco-Kelly F and Bocquet B and Boon CJF and Branham K and Britten-Jones AC and Bujakowska KM and Cadena EL and Calzetti G and Cancellieri F and Cattaneo L and Issa PC and Chadderton N and Coutinho-Santos L and Daiger SP and De Baere E and de la Cerda B and De Roach JN and De Zaeytijd J and Derks R and Dhaenens CM and Dudakova L and Duncan JL and Farrar GJ and Feltgen N and Fernández-Caballero L and Sallum JMF and Gana S and Garanto A and Gardner JC and Gilissen C and Goto K and Gonzàlez-Duarte R and Griffiths-Jones S and Haack TB and Haer-Wigman L and Hardcastle AJ and Hayashi T and Héon E and Hoischen A and Holtan JP and Hoyng CB and Ibanez MBB 4th and Inglehearn CF and Iwata T and Jones K and Kalatzis V and Kamakari S and Karali M and Kellner U and Knézy K and Klaver CCW and Koenekoop RK and Kohl S and Kominami T and Kühlewein L and Lamey TM and Leroy BP and Martín-Gutiérrez MP and Martins N and Mauring L and Leibu R and Lin S and Liskova P and Lopez I and López-Rodríguez VRJ and Mahroo OA and Manes G and McKibbin M and McLaren TL and Meunier I and Michaelides M and Millán JM and Mizobuchi K and Mukherjee R and Nagy ZZ and Neveling K and Ołdak M and Oorsprong M and Pan Y and Papachristou A and Percesepe A and Pfau M and Pierce EA and Place E and Ramesar R and Rasquin FA and Rice GI and Roberts L and Rodríguez-Hidalgo M and Ruiz-Eddera J and Sabir AH and Sajiki AF and Sánchez-Barbero AI and Sarma AS and Sangermano R and Santos CM and Scarpato M and Scholl HPN and Sharon D and Signorini SG and Simonelli F and Sousa AB and Stefaniotou M and Stingl K and Suga A and Sullivan LS and Szabó V and Szaflik JP and Taurina G and Toomes C and Tran VH and Tsilimbaris MK and Tsoka P and Vaclavik V and Vajter M and Valeina S and Valente EM and Valentine C and Valero R and van Aerschot J and van den Born LI and Webster AR and Whelan L and Wissinger B and Yioti GG and Yoshitake K and Zenteno JC and Zeuli R and Zuleger T and Landau C and Jacob AI and Cremers FPM and Lee W and Ellingford JM and Stanek D and Rivolta C and Roosing S},
  year = {2025},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.1101/2025.01.06.24317169},
  url = {https://doi.org/10.1101/2025.01.06.24317169}
}

RIS

TY  - JOUR
TI  - De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
AU  - Quinodoz M
AU  - Rodenburg K
AU  - Cvackova Z
AU  - Kaminska K
AU  - de Bruijn SE
AU  - Iglesias-Romero AB
AU  - Boonen EGM
AU  - Ullah M
AU  - Zomer N
AU  - Folcher M
AU  - Bijon J
AU  - Holtes LK
AU  - Tsang SH
AU  - Corradi Z
AU  - Freund KB
AU  - Shliaga S
AU  - Panneman DM
AU  - Hitti-Malin RJ
AU  - Ali M
AU  - AlTalbishi A
AU  - Andréasson S
AU  - Ansari G
AU  - Arno G
AU  - Astuti GDN
AU  - Ayuso C
AU  - Ayyagari R
AU  - Banfi S
AU  - Banin E
AU  - Barboni MTS
AU  - Bauwens M
AU  - Ben-Yosef T
AU  - Birch DG
AU  - Biswas P
AU  - Blanco-Kelly F
AU  - Bocquet B
AU  - Boon CJF
AU  - Branham K
AU  - Britten-Jones AC
AU  - Bujakowska KM
AU  - Cadena EL
AU  - Calzetti G
AU  - Cancellieri F
AU  - Cattaneo L
AU  - Issa PC
AU  - Chadderton N
AU  - Coutinho-Santos L
AU  - Daiger SP
AU  - De Baere E
AU  - de la Cerda B
AU  - De Roach JN
AU  - De Zaeytijd J
AU  - Derks R
AU  - Dhaenens CM
AU  - Dudakova L
AU  - Duncan JL
AU  - Farrar GJ
AU  - Feltgen N
AU  - Fernández-Caballero L
AU  - Sallum JMF
AU  - Gana S
AU  - Garanto A
AU  - Gardner JC
AU  - Gilissen C
AU  - Goto K
AU  - Gonzàlez-Duarte R
AU  - Griffiths-Jones S
AU  - Haack TB
AU  - Haer-Wigman L
AU  - Hardcastle AJ
AU  - Hayashi T
AU  - Héon E
AU  - Hoischen A
AU  - Holtan JP
AU  - Hoyng CB
AU  - Ibanez MBB 4th
AU  - Inglehearn CF
AU  - Iwata T
AU  - Jones K
AU  - Kalatzis V
AU  - Kamakari S
AU  - Karali M
AU  - Kellner U
AU  - Knézy K
AU  - Klaver CCW
AU  - Koenekoop RK
AU  - Kohl S
AU  - Kominami T
AU  - Kühlewein L
AU  - Lamey TM
AU  - Leroy BP
AU  - Martín-Gutiérrez MP
AU  - Martins N
AU  - Mauring L
AU  - Leibu R
AU  - Lin S
AU  - Liskova P
AU  - Lopez I
AU  - López-Rodríguez VRJ
AU  - Mahroo OA
AU  - Manes G
AU  - McKibbin M
AU  - McLaren TL
AU  - Meunier I
AU  - Michaelides M
AU  - Millán JM
AU  - Mizobuchi K
AU  - Mukherjee R
AU  - Nagy ZZ
AU  - Neveling K
AU  - Ołdak M
AU  - Oorsprong M
AU  - Pan Y
AU  - Papachristou A
AU  - Percesepe A
AU  - Pfau M
AU  - Pierce EA
AU  - Place E
AU  - Ramesar R
AU  - Rasquin FA
AU  - Rice GI
AU  - Roberts L
AU  - Rodríguez-Hidalgo M
AU  - Ruiz-Eddera J
AU  - Sabir AH
AU  - Sajiki AF
AU  - Sánchez-Barbero AI
AU  - Sarma AS
AU  - Sangermano R
AU  - Santos CM
AU  - Scarpato M
AU  - Scholl HPN
AU  - Sharon D
AU  - Signorini SG
AU  - Simonelli F
AU  - Sousa AB
AU  - Stefaniotou M
AU  - Stingl K
AU  - Suga A
AU  - Sullivan LS
AU  - Szabó V
AU  - Szaflik JP
AU  - Taurina G
AU  - Toomes C
AU  - Tran VH
AU  - Tsilimbaris MK
AU  - Tsoka P
AU  - Vaclavik V
AU  - Vajter M
AU  - Valeina S
AU  - Valente EM
AU  - Valentine C
AU  - Valero R
AU  - van Aerschot J
AU  - van den Born LI
AU  - Webster AR
AU  - Whelan L
AU  - Wissinger B
AU  - Yioti GG
AU  - Yoshitake K
AU  - Zenteno JC
AU  - Zeuli R
AU  - Zuleger T
AU  - Landau C
AU  - Jacob AI
AU  - Cremers FPM
AU  - Lee W
AU  - Ellingford JM
AU  - Stanek D
AU  - Rivolta C
AU  - Roosing S
PY  - 2025
JO  - medRxiv : the preprint server for health sciences
DO  - 10.1101/2025.01.06.24317169
UR  - https://doi.org/10.1101/2025.01.06.24317169
ER  -

APA

M, Q., K, R., Z, C., K, K., SE, D. B., AB, I., EGM, B., M, U., N, Z., M, F., J, B., LK, H., SH, T., Z, C., KB, F., S, S., DM, P., RJ, H., M, A., A, A., S, A., G, A., G, A., GDN, A., C, A., R, A., S, B., E, B., MTS, B., M, B., T, B., DG, B., P, B., F, B., B, B., CJF, B., K, B., AC, B., KM, B., EL, C., G, C., F, C., L, C., PC, I., N, C., L, C., SP, D., E, D. B., B, D. L. C., JN, D. R., J, D. Z., R, D., CM, D., L, D., JL, D., GJ, F., N, F., L, F., JMF, S., S, G., A, G., JC, G., C, G., K, G., R, G., S, G., TB, H., L, H., AJ, H., T, H., E, H., A, H., JP, H., CB, H., 4th, I. M., CF, I., T, I., K, J., V, K., S, K., M, K., U, K., K, K., CCW, K., RK, K., S, K., T, K., L, K., TM, L., BP, L., MP, M., N, M., L, M., R, L., S, L., P, L., I, L., VRJ, L., OA, M., G, M., M, M., TL, M., I, M., M, M., JM, M., K, M., R, M., ZZ, N., K, N., M, O., M, O., Y, P., A, P., A, P., M, P., EA, P., E, P., R, R., FA, R., GI, R., L, R., M, R., J, R., AH, S., AF, S., AI, S., AS, S., R, S., CM, S., M, S., HPN, S., D, S., SG, S., F, S., AB, S., M, S., K, S., A, S., LS, S., V, S., JP, S., G, T., C, T., VH, T., MK, T., P, T., V, V., M, V., S, V., EM, V., C, V., R, V., J, V. A., LI, V. D. B., AR, W., L, W., B, W., GG, Y., K, Y., JC, Z., R, Z., T, Z., C, L., AI, J., FPM, C., W, L., JM, E., D, S., C, R., & S, R. (2025). De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2025.01.06.24317169

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