Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB

Open source

DOI
10.1186/s13073-024-01411-7
Published
2024 Dec 18
Container
Genome medicine
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1186/s13073-024-01411-7,
  title = {Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.},
  author = {Pehlivan D and Bengtsson JD and Bajikar SS and Grochowski CM and Lun MY and Gandhi M and Jolly A and Trostle AJ and Harris HK and Suter B and Aras S and Ramocki MB and Du H and Mehaffey MG and Park K and Wilkey E and Karakas C and Eisfeldt JJ and Pettersson M and Liu L and Shinawi MS and Kimonis VE and Wiszniewski W and Mckenzie K and Roser T and Vianna-Morgante AM and Cornier AS and Abdelmoity A and Hwang JP and Jhangiani SN and Muzny DM and Mitani T and Muramatsu K and Nabatame S and Glaze DG and Fatih JM and Gibbs RA and Liu Z and Lindstrand A and Sedlazeck FJ and Lupski JR and Zoghbi HY and Carvalho CMB},
  year = {2024},
  journal = {Genome medicine},
  doi = {10.1186/s13073-024-01411-7},
  url = {https://doi.org/10.1186/s13073-024-01411-7}
}

RIS

TY  - JOUR
TI  - Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
AU  - Pehlivan D
AU  - Bengtsson JD
AU  - Bajikar SS
AU  - Grochowski CM
AU  - Lun MY
AU  - Gandhi M
AU  - Jolly A
AU  - Trostle AJ
AU  - Harris HK
AU  - Suter B
AU  - Aras S
AU  - Ramocki MB
AU  - Du H
AU  - Mehaffey MG
AU  - Park K
AU  - Wilkey E
AU  - Karakas C
AU  - Eisfeldt JJ
AU  - Pettersson M
AU  - Liu L
AU  - Shinawi MS
AU  - Kimonis VE
AU  - Wiszniewski W
AU  - Mckenzie K
AU  - Roser T
AU  - Vianna-Morgante AM
AU  - Cornier AS
AU  - Abdelmoity A
AU  - Hwang JP
AU  - Jhangiani SN
AU  - Muzny DM
AU  - Mitani T
AU  - Muramatsu K
AU  - Nabatame S
AU  - Glaze DG
AU  - Fatih JM
AU  - Gibbs RA
AU  - Liu Z
AU  - Lindstrand A
AU  - Sedlazeck FJ
AU  - Lupski JR
AU  - Zoghbi HY
AU  - Carvalho CMB
PY  - 2024
JO  - Genome medicine
DO  - 10.1186/s13073-024-01411-7
UR  - https://doi.org/10.1186/s13073-024-01411-7
ER  -

APA

D, P., JD, B., SS, B., CM, G., MY, L., M, G., A, J., AJ, T., HK, H., B, S., S, A., MB, R., H, D., MG, M., K, P., E, W., C, K., JJ, E., M, P., L, L., MS, S., VE, K., W, W., K, M., T, R., AM, V., AS, C., A, A., JP, H., SN, J., DM, M., T, M., K, M., S, N., DG, G., JM, F., RA, G., Z, L., A, L., FJ, S., JR, L., HY, Z., & CMB, C. (2024). Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.. Genome medicine. https://doi.org/10.1186/s13073-024-01411-7

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