MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM.

Open source

DOI: 10.1016/j.ajhg.2024.05.001
Published: 2024-05-29
Container: Am J Hum Genet
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2024.05.001,
  title = {MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.},
  author = {Karayol R and  Borroto MC and  Haghshenas S and  Namasivayam A and  Reilly J and  Levy MA and  Relator R and  Kerkhof J and  McConkey H and  Shvedunova M and  Petersen AK and  Magnussen K and  Zweier C and  Vasileiou G and  Reis A and  Savatt JM and  Mulligan MR and  Bicknell LS and  Poke G and  Abu-El-Haija A and  Duis J and  Hannig V and  Srivastava S and  Barkoudah E and  Hauser NS and  van den Born M and  Hamiel U and  Henig N and  Baris Feldman H and  McKee S and  Krapels IPC and  Lei Y and  Todorova A and  Yordanova R and  Atemin S and  Rogac M and  McConnell V and  Chassevent A and  Barañano KW and  Shashi V and  Sullivan JA and  Peron A and  Iascone M and  Canevini MP and  Friedman J and  Reyes IA and  Kierstein J and  Shen JJ and  Ahmed FN and  Mao X and  Almoguera B and  Blanco-Kelly F and  Platzer K and  Treu AB and  Quilichini J and  Bourgois A and  Chatron N and  Januel L and  Rougeot C and  Carere DA and  Monaghan KG and  Rousseau J and  Myers KA and  Sadikovic B and  Akhtar A and  Campeau PM.},
  year = {2024},
  journal = {Am J Hum Genet},
  doi = {10.1016/j.ajhg.2024.05.001},
  url = {https://doi.org/10.1016/j.ajhg.2024.05.001}
}

RIS

TY  - JOUR
TI  - MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
AU  - Karayol R
AU  -  Borroto MC
AU  -  Haghshenas S
AU  -  Namasivayam A
AU  -  Reilly J
AU  -  Levy MA
AU  -  Relator R
AU  -  Kerkhof J
AU  -  McConkey H
AU  -  Shvedunova M
AU  -  Petersen AK
AU  -  Magnussen K
AU  -  Zweier C
AU  -  Vasileiou G
AU  -  Reis A
AU  -  Savatt JM
AU  -  Mulligan MR
AU  -  Bicknell LS
AU  -  Poke G
AU  -  Abu-El-Haija A
AU  -  Duis J
AU  -  Hannig V
AU  -  Srivastava S
AU  -  Barkoudah E
AU  -  Hauser NS
AU  -  van den Born M
AU  -  Hamiel U
AU  -  Henig N
AU  -  Baris Feldman H
AU  -  McKee S
AU  -  Krapels IPC
AU  -  Lei Y
AU  -  Todorova A
AU  -  Yordanova R
AU  -  Atemin S
AU  -  Rogac M
AU  -  McConnell V
AU  -  Chassevent A
AU  -  Barañano KW
AU  -  Shashi V
AU  -  Sullivan JA
AU  -  Peron A
AU  -  Iascone M
AU  -  Canevini MP
AU  -  Friedman J
AU  -  Reyes IA
AU  -  Kierstein J
AU  -  Shen JJ
AU  -  Ahmed FN
AU  -  Mao X
AU  -  Almoguera B
AU  -  Blanco-Kelly F
AU  -  Platzer K
AU  -  Treu AB
AU  -  Quilichini J
AU  -  Bourgois A
AU  -  Chatron N
AU  -  Januel L
AU  -  Rougeot C
AU  -  Carere DA
AU  -  Monaghan KG
AU  -  Rousseau J
AU  -  Myers KA
AU  -  Sadikovic B
AU  -  Akhtar A
AU  -  Campeau PM.
PY  - 2024
JO  - Am J Hum Genet
DO  - 10.1016/j.ajhg.2024.05.001
UR  - https://doi.org/10.1016/j.ajhg.2024.05.001
ER  -

APA

R, K., MC, B., S, H., A, N., J, R., MA, L., R, R., J, K., H, M., M, S., AK, P., K, M., C, Z., G, V., A, R., JM, S., MR, M., LS, B., G, P., A, A., J, D., V, H., S, S., E, B., NS, H., M, V. D. B., U, H., N, H., H, B. F., S, M., IPC, K., Y, L., A, T., R, Y., S, A., M, R., V, M., A, C., KW, B., V, S., JA, S., A, P., M, I., MP, C., J, F., IA, R., J, K., JJ, S., FN, A., X, M., B, A., F, B., K, P., AB, T., J, Q., A, B., N, C., L, J., C, R., DA, C., KG, M., J, R., KA, M., B, S., A, A., & PM., C. (2024). MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.. Am J Hum Genet. https://doi.org/10.1016/j.ajhg.2024.05.001

Source records

europe-pmc · retrieved 2026-09-26T18:52:52.779Z
hal · retrieved 2026-09-26T18:52:52.799Z