Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, Drivas TG, Hennessy L, Raper A, Parenti I, Kaiser FJ, Kuechler A, Busk ØL, Islam L, Siedlik JA, Henderson LB, Juusola J, Person R, Schnur RE, Vitobello A, Banka S, Bhoj EJ, Stessman HAF

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DOI: 10.1126/sciadv.ade1463
Published: 2023 Mar 10
Container: Science advances
Publisher: Not recorded
Open access: yes

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BibTeX

@article{allodium:10.1126/sciadv.ade1463,
  title = {Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.},
  author = {Sheppard SE and Bryant L and Wickramasekara RN and Vaccaro C and Robertson B and Hallgren J and Hulen J and Watson CJ and Faundes V and Duffourd Y and Lee P and Simon MC and de la Cruz X and Padilla N and Flores-Mendez M and Akizu N and Smiler J and Pellegrino Da Silva R and Li D and March M and Diaz-Rosado A and Peixoto de Barcelos I and Choa ZX and Lim CY and Dubourg C and Journel H and Demurger F and Mulhern M and Akman C and Lippa N and Andrews M and Baldridge D and Constantino J and van Haeringen A and Snoeck-Streef I and Chow P and Hing A and Graham JM Jr and Au M and Faivre L and Shen W and Mao R and Palumbos J and Viskochil D and Gahl W and Tifft C and Macnamara E and Hauser N and Miller R and Maffeo J and Afenjar A and Doummar D and Keren B and Arn P and Macklin-Mantia S and Meerschaut I and Callewaert B and Reis A and Zweier C and Brewer C and Saggar A and Smeland MF and Kumar A and Elmslie F and Deshpande C and Nizon M and Cogne B and van Ierland Y and Wilke M and van Slegtenhorst M and Koudijs S and Chen JY and Dredge D and Pier D and Wortmann S and Kamsteeg EJ and Koch J and Haynes D and Pollack L and Titheradge H and Ranguin K and Denommé-Pichon AS and Weber S and Pérez de la Fuente R and Sánchez Del Pozo J and Lezana Rosales JM and Joset P and Steindl K and Rauch A and Mei D and Mari F and Guerrini R and Lespinasse J and Tran Mau-Them F and Philippe C and Dauriat B and Raymond L and Moutton S and Cueto-González AM and Tan TY and Mignot C and Grotto S and Renaldo F and Drivas TG and Hennessy L and Raper A and Parenti I and Kaiser FJ and Kuechler A and Busk ØL and Islam L and Siedlik JA and Henderson LB and Juusola J and Person R and Schnur RE and Vitobello A and Banka S and Bhoj EJ and Stessman HAF},
  year = {2023},
  journal = {Science advances},
  doi = {10.1126/sciadv.ade1463},
  url = {https://doi.org/10.1126/sciadv.ade1463}
}

RIS

TY  - JOUR
TI  - Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
AU  - Sheppard SE
AU  - Bryant L
AU  - Wickramasekara RN
AU  - Vaccaro C
AU  - Robertson B
AU  - Hallgren J
AU  - Hulen J
AU  - Watson CJ
AU  - Faundes V
AU  - Duffourd Y
AU  - Lee P
AU  - Simon MC
AU  - de la Cruz X
AU  - Padilla N
AU  - Flores-Mendez M
AU  - Akizu N
AU  - Smiler J
AU  - Pellegrino Da Silva R
AU  - Li D
AU  - March M
AU  - Diaz-Rosado A
AU  - Peixoto de Barcelos I
AU  - Choa ZX
AU  - Lim CY
AU  - Dubourg C
AU  - Journel H
AU  - Demurger F
AU  - Mulhern M
AU  - Akman C
AU  - Lippa N
AU  - Andrews M
AU  - Baldridge D
AU  - Constantino J
AU  - van Haeringen A
AU  - Snoeck-Streef I
AU  - Chow P
AU  - Hing A
AU  - Graham JM Jr
AU  - Au M
AU  - Faivre L
AU  - Shen W
AU  - Mao R
AU  - Palumbos J
AU  - Viskochil D
AU  - Gahl W
AU  - Tifft C
AU  - Macnamara E
AU  - Hauser N
AU  - Miller R
AU  - Maffeo J
AU  - Afenjar A
AU  - Doummar D
AU  - Keren B
AU  - Arn P
AU  - Macklin-Mantia S
AU  - Meerschaut I
AU  - Callewaert B
AU  - Reis A
AU  - Zweier C
AU  - Brewer C
AU  - Saggar A
AU  - Smeland MF
AU  - Kumar A
AU  - Elmslie F
AU  - Deshpande C
AU  - Nizon M
AU  - Cogne B
AU  - van Ierland Y
AU  - Wilke M
AU  - van Slegtenhorst M
AU  - Koudijs S
AU  - Chen JY
AU  - Dredge D
AU  - Pier D
AU  - Wortmann S
AU  - Kamsteeg EJ
AU  - Koch J
AU  - Haynes D
AU  - Pollack L
AU  - Titheradge H
AU  - Ranguin K
AU  - Denommé-Pichon AS
AU  - Weber S
AU  - Pérez de la Fuente R
AU  - Sánchez Del Pozo J
AU  - Lezana Rosales JM
AU  - Joset P
AU  - Steindl K
AU  - Rauch A
AU  - Mei D
AU  - Mari F
AU  - Guerrini R
AU  - Lespinasse J
AU  - Tran Mau-Them F
AU  - Philippe C
AU  - Dauriat B
AU  - Raymond L
AU  - Moutton S
AU  - Cueto-González AM
AU  - Tan TY
AU  - Mignot C
AU  - Grotto S
AU  - Renaldo F
AU  - Drivas TG
AU  - Hennessy L
AU  - Raper A
AU  - Parenti I
AU  - Kaiser FJ
AU  - Kuechler A
AU  - Busk ØL
AU  - Islam L
AU  - Siedlik JA
AU  - Henderson LB
AU  - Juusola J
AU  - Person R
AU  - Schnur RE
AU  - Vitobello A
AU  - Banka S
AU  - Bhoj EJ
AU  - Stessman HAF
PY  - 2023
JO  - Science advances
DO  - 10.1126/sciadv.ade1463
UR  - https://doi.org/10.1126/sciadv.ade1463
ER  -

APA

SE, S., L, B., RN, W., C, V., B, R., J, H., J, H., CJ, W., V, F., Y, D., P, L., MC, S., X, D. L. C., N, P., M, F., N, A., J, S., R, P. D. S., D, L., M, M., A, D., I, P. D. B., ZX, C., CY, L., C, D., H, J., F, D., M, M., C, A., N, L., M, A., D, B., J, C., A, V. H., I, S., P, C., A, H., Jr, G. J., M, A., L, F., W, S., R, M., J, P., D, V., W, G., C, T., E, M., N, H., R, M., J, M., A, A., D, D., B, K., P, A., S, M., I, M., B, C., A, R., C, Z., C, B., A, S., MF, S., A, K., F, E., C, D., M, N., B, C., Y, V. I., M, W., M, V. S., S, K., JY, C., D, D., D, P., S, W., EJ, K., J, K., D, H., L, P., H, T., K, R., AS, D., S, W., R, P. D. L. F., J, S. D. P., JM, L. R., P, J., K, S., A, R., D, M., F, M., R, G., J, L., F, T. M., C, P., B, D., L, R., S, M., AM, C., TY, T., C, M., S, G., F, R., TG, D., L, H., A, R., I, P., FJ, K., A, K., ØL, B., L, I., JA, S., LB, H., J, J., R, P., RE, S., A, V., S, B., EJ, B., & HAF, S. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.. Science advances. https://doi.org/10.1126/sciadv.ade1463

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pubmed · retrieved 2026-09-27T14:14:25.030Z