De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N

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DOI: 10.1038/s41586-024-07773-7
Published: 2024 Aug
Container: Nature
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41586-024-07773-7,
  title = {De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.},
  author = {Chen Y and Dawes R and Kim HC and Ljungdahl A and Stenton SL and Walker S and Lord J and Lemire G and Martin-Geary AC and Ganesh VS and Ma J and Ellingford JM and Delage E and D'Souza EN and Dong S and Adams DR and Allan K and Bakshi M and Baldwin EE and Berger SI and Bernstein JA and Bhatnagar I and Blair E and Brown NJ and Burrage LC and Chapman K and Coman DJ and Compton AG and Cunningham CA and D'Souza P and Danecek P and Délot EC and Dias KR and Elias ER and Elmslie F and Evans CA and Ewans L and Ezell K and Fraser JL and Gallacher L and Genetti CA and Goriely A and Grant CL and Haack T and Higgs JE and Hinch AG and Hurles ME and Kuechler A and Lachlan KL and Lalani SR and Lecoquierre F and Leitão E and Fevre AL and Leventer RJ and Liebelt JE and Lindsay S and Lockhart PJ and Ma AS and Macnamara EF and Mansour S and Maurer TM and Mendez HR and Metcalfe K and Montgomery SB and Moosajee M and Nassogne MC and Neumann S and O'Donoghue M and O'Leary M and Palmer EE and Pattani N and Phillips J and Pitsava G and Pysar R and Rehm HL and Reuter CM and Revencu N and Riess A and Rius R and Rodan L and Roscioli T and Rosenfeld JA and Sachdev R and Shaw-Smith CJ and Simons C and Sisodiya SM and Snell P and St Clair L and Stark Z and Stewart HS and Tan TY and Tan NB and Temple SEL and Thorburn DR and Tifft CJ and Uebergang E and VanNoy GE and Vasudevan P and Vilain E and Viskochil DH and Wedd L and Wheeler MT and White SM and Wojcik M and Wolfe LA and Wolfenson Z and Wright CF and Xiao C and Zocche D and Rubenstein JL and Markenscoff-Papadimitriou E and Fica SM and Baralle D and Depienne C and MacArthur DG and Howson JMM and Sanders SJ and O'Donnell-Luria A and Whiffin N},
  year = {2024},
  journal = {Nature},
  doi = {10.1038/s41586-024-07773-7},
  url = {https://doi.org/10.1038/s41586-024-07773-7}
}

RIS

TY  - JOUR
TI  - De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
AU  - Chen Y
AU  - Dawes R
AU  - Kim HC
AU  - Ljungdahl A
AU  - Stenton SL
AU  - Walker S
AU  - Lord J
AU  - Lemire G
AU  - Martin-Geary AC
AU  - Ganesh VS
AU  - Ma J
AU  - Ellingford JM
AU  - Delage E
AU  - D'Souza EN
AU  - Dong S
AU  - Adams DR
AU  - Allan K
AU  - Bakshi M
AU  - Baldwin EE
AU  - Berger SI
AU  - Bernstein JA
AU  - Bhatnagar I
AU  - Blair E
AU  - Brown NJ
AU  - Burrage LC
AU  - Chapman K
AU  - Coman DJ
AU  - Compton AG
AU  - Cunningham CA
AU  - D'Souza P
AU  - Danecek P
AU  - Délot EC
AU  - Dias KR
AU  - Elias ER
AU  - Elmslie F
AU  - Evans CA
AU  - Ewans L
AU  - Ezell K
AU  - Fraser JL
AU  - Gallacher L
AU  - Genetti CA
AU  - Goriely A
AU  - Grant CL
AU  - Haack T
AU  - Higgs JE
AU  - Hinch AG
AU  - Hurles ME
AU  - Kuechler A
AU  - Lachlan KL
AU  - Lalani SR
AU  - Lecoquierre F
AU  - Leitão E
AU  - Fevre AL
AU  - Leventer RJ
AU  - Liebelt JE
AU  - Lindsay S
AU  - Lockhart PJ
AU  - Ma AS
AU  - Macnamara EF
AU  - Mansour S
AU  - Maurer TM
AU  - Mendez HR
AU  - Metcalfe K
AU  - Montgomery SB
AU  - Moosajee M
AU  - Nassogne MC
AU  - Neumann S
AU  - O'Donoghue M
AU  - O'Leary M
AU  - Palmer EE
AU  - Pattani N
AU  - Phillips J
AU  - Pitsava G
AU  - Pysar R
AU  - Rehm HL
AU  - Reuter CM
AU  - Revencu N
AU  - Riess A
AU  - Rius R
AU  - Rodan L
AU  - Roscioli T
AU  - Rosenfeld JA
AU  - Sachdev R
AU  - Shaw-Smith CJ
AU  - Simons C
AU  - Sisodiya SM
AU  - Snell P
AU  - St Clair L
AU  - Stark Z
AU  - Stewart HS
AU  - Tan TY
AU  - Tan NB
AU  - Temple SEL
AU  - Thorburn DR
AU  - Tifft CJ
AU  - Uebergang E
AU  - VanNoy GE
AU  - Vasudevan P
AU  - Vilain E
AU  - Viskochil DH
AU  - Wedd L
AU  - Wheeler MT
AU  - White SM
AU  - Wojcik M
AU  - Wolfe LA
AU  - Wolfenson Z
AU  - Wright CF
AU  - Xiao C
AU  - Zocche D
AU  - Rubenstein JL
AU  - Markenscoff-Papadimitriou E
AU  - Fica SM
AU  - Baralle D
AU  - Depienne C
AU  - MacArthur DG
AU  - Howson JMM
AU  - Sanders SJ
AU  - O'Donnell-Luria A
AU  - Whiffin N
PY  - 2024
JO  - Nature
DO  - 10.1038/s41586-024-07773-7
UR  - https://doi.org/10.1038/s41586-024-07773-7
ER  -

APA

Y, C., R, D., HC, K., A, L., SL, S., S, W., J, L., G, L., AC, M., VS, G., J, M., JM, E., E, D., EN, D., S, D., DR, A., K, A., M, B., EE, B., SI, B., JA, B., I, B., E, B., NJ, B., LC, B., K, C., DJ, C., AG, C., CA, C., P, D., P, D., EC, D., KR, D., ER, E., F, E., CA, E., L, E., K, E., JL, F., L, G., CA, G., A, G., CL, G., T, H., JE, H., AG, H., ME, H., A, K., KL, L., SR, L., F, L., E, L., AL, F., RJ, L., JE, L., S, L., PJ, L., AS, M., EF, M., S, M., TM, M., HR, M., K, M., SB, M., M, M., MC, N., S, N., M, O., M, O., EE, P., N, P., J, P., G, P., R, P., HL, R., CM, R., N, R., A, R., R, R., L, R., T, R., JA, R., R, S., CJ, S., C, S., SM, S., P, S., L, S. C., Z, S., HS, S., TY, T., NB, T., SEL, T., DR, T., CJ, T., E, U., GE, V., P, V., E, V., DH, V., L, W., MT, W., SM, W., M, W., LA, W., Z, W., CF, W., C, X., D, Z., JL, R., E, M., SM, F., D, B., C, D., DG, M., JMM, H., SJ, S., A, O., & N, W. (2024). De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.. Nature. https://doi.org/10.1038/s41586-024-07773-7

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pubmed · retrieved 2026-09-26T19:14:45.352Z