Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS

Open source

DOI
10.1038/s41467-022-34349-8
Published
2022 Nov 4
Container
Nature communications
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-022-34349-8,
  title = {Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.},
  author = {Grange LJ and Reynolds JJ and Ullah F and Isidor B and Shearer RF and Latypova X and Baxley RM and Oliver AW and Ganesh A and Cooke SL and Jhujh SS and McNee GS and Hollingworth R and Higgs MR and Natsume T and Khan T and Martos-Moreno GÁ and Chupp S and Mathew CG and Parry D and Simpson MA and Nahavandi N and Yüksel Z and Drasdo M and Kron A and Vogt P and Jonasson A and Seth SA and Gonzaga-Jauregui C and Brigatti KW and Stegmann APA and Kanemaki M and Josifova D and Uchiyama Y and Oh Y and Morimoto A and Osaka H and Ammous Z and Argente J and Matsumoto N and Stumpel CTRM and Taylor AMR and Jackson AP and Bielinsky AK and Mailand N and Le Caignec C and Davis EE and Stewart GS},
  year = {2022},
  journal = {Nature communications},
  doi = {10.1038/s41467-022-34349-8},
  url = {https://doi.org/10.1038/s41467-022-34349-8}
}

RIS

TY  - JOUR
TI  - Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
AU  - Grange LJ
AU  - Reynolds JJ
AU  - Ullah F
AU  - Isidor B
AU  - Shearer RF
AU  - Latypova X
AU  - Baxley RM
AU  - Oliver AW
AU  - Ganesh A
AU  - Cooke SL
AU  - Jhujh SS
AU  - McNee GS
AU  - Hollingworth R
AU  - Higgs MR
AU  - Natsume T
AU  - Khan T
AU  - Martos-Moreno GÁ
AU  - Chupp S
AU  - Mathew CG
AU  - Parry D
AU  - Simpson MA
AU  - Nahavandi N
AU  - Yüksel Z
AU  - Drasdo M
AU  - Kron A
AU  - Vogt P
AU  - Jonasson A
AU  - Seth SA
AU  - Gonzaga-Jauregui C
AU  - Brigatti KW
AU  - Stegmann APA
AU  - Kanemaki M
AU  - Josifova D
AU  - Uchiyama Y
AU  - Oh Y
AU  - Morimoto A
AU  - Osaka H
AU  - Ammous Z
AU  - Argente J
AU  - Matsumoto N
AU  - Stumpel CTRM
AU  - Taylor AMR
AU  - Jackson AP
AU  - Bielinsky AK
AU  - Mailand N
AU  - Le Caignec C
AU  - Davis EE
AU  - Stewart GS
PY  - 2022
JO  - Nature communications
DO  - 10.1038/s41467-022-34349-8
UR  - https://doi.org/10.1038/s41467-022-34349-8
ER  -

APA

LJ, G., JJ, R., F, U., B, I., RF, S., X, L., RM, B., AW, O., A, G., SL, C., SS, J., GS, M., R, H., MR, H., T, N., T, K., GÁ, M., S, C., CG, M., D, P., MA, S., N, N., Z, Y., M, D., A, K., P, V., A, J., SA, S., C, G., KW, B., APA, S., M, K., D, J., Y, U., Y, O., A, M., H, O., Z, A., J, A., N, M., CTRM, S., AMR, T., AP, J., AK, B., N, M., C, L. C., EE, D., & GS, S. (2022). Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.. Nature communications. https://doi.org/10.1038/s41467-022-34349-8

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