De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

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

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DOI: 10.1101/2024.04.07.24305438
Published: 2024 Apr 9
Container: medRxiv : the preprint server for health sciences
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1101/2024.04.07.24305438,
  title = {De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.},
  author = {Chen Y and Dawes R and Kim HC and Stenton SL and Walker S and Ljungdahl A and Lord J and Ganesh VS and Ma J and Martin-Geary AC and Lemire G and D'Souza EN and Dong S and Ellingford JM and Adams DR and Allan K and Bakshi M and Baldwin EE and Berger SI and Bernstein JA and Brown NJ and Burrage LC and Chapman K and Compton AG and Cunningham CA and D'Souza P and Délot EC and Dias KR and Elias ER and Evans CA and Ewans L and Ezell K and Fraser JL and Gallacher L and Genetti CA and Grant CL and Haack T and Kuechler A and Lalani SR and Leitão E and Fevre AL and Leventer RJ and Liebelt JE and Lockhart PJ and Ma AS and Macnamara EF and Maurer TM and Mendez HR and Montgomery SB and Nassogne MC and Neumann S and O'Leary M and Palmer EE 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 Simons C and Sisodiya SM and Snell P and Clair L and Stark Z and Tan TY and Tan NB and Temple SE and Thorburn DR and Tifft CJ and Uebergang E and VanNoy GE 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 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 JM and Sanders SJ and O'Donnell-Luria A and Whiffin N},
  year = {2024},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.1101/2024.04.07.24305438},
  url = {https://doi.org/10.1101/2024.04.07.24305438}
}

RIS

TY  - JOUR
TI  - De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
AU  - Chen Y
AU  - Dawes R
AU  - Kim HC
AU  - Stenton SL
AU  - Walker S
AU  - Ljungdahl A
AU  - Lord J
AU  - Ganesh VS
AU  - Ma J
AU  - Martin-Geary AC
AU  - Lemire G
AU  - D'Souza EN
AU  - Dong S
AU  - Ellingford JM
AU  - Adams DR
AU  - Allan K
AU  - Bakshi M
AU  - Baldwin EE
AU  - Berger SI
AU  - Bernstein JA
AU  - Brown NJ
AU  - Burrage LC
AU  - Chapman K
AU  - Compton AG
AU  - Cunningham CA
AU  - D'Souza P
AU  - Délot EC
AU  - Dias KR
AU  - Elias ER
AU  - Evans CA
AU  - Ewans L
AU  - Ezell K
AU  - Fraser JL
AU  - Gallacher L
AU  - Genetti CA
AU  - Grant CL
AU  - Haack T
AU  - Kuechler A
AU  - Lalani SR
AU  - Leitão E
AU  - Fevre AL
AU  - Leventer RJ
AU  - Liebelt JE
AU  - Lockhart PJ
AU  - Ma AS
AU  - Macnamara EF
AU  - Maurer TM
AU  - Mendez HR
AU  - Montgomery SB
AU  - Nassogne MC
AU  - Neumann S
AU  - O'Leary M
AU  - Palmer EE
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  - Simons C
AU  - Sisodiya SM
AU  - Snell P
AU  - Clair L
AU  - Stark Z
AU  - Tan TY
AU  - Tan NB
AU  - Temple SE
AU  - Thorburn DR
AU  - Tifft CJ
AU  - Uebergang E
AU  - VanNoy GE
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  - 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 JM
AU  - Sanders SJ
AU  - O'Donnell-Luria A
AU  - Whiffin N
PY  - 2024
JO  - medRxiv : the preprint server for health sciences
DO  - 10.1101/2024.04.07.24305438
UR  - https://doi.org/10.1101/2024.04.07.24305438
ER  -

APA

Y, C., R, D., HC, K., SL, S., S, W., A, L., J, L., VS, G., J, M., AC, M., G, L., EN, D., S, D., JM, E., DR, A., K, A., M, B., EE, B., SI, B., JA, B., NJ, B., LC, B., K, C., AG, C., CA, C., P, D., EC, D., KR, D., ER, E., CA, E., L, E., K, E., JL, F., L, G., CA, G., CL, G., T, H., A, K., SR, L., E, L., AL, F., RJ, L., JE, L., PJ, L., AS, M., EF, M., TM, M., HR, M., SB, M., MC, N., S, N., M, O., EE, 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., C, S., SM, S., P, S., L, C., Z, S., TY, T., NB, T., SE, T., DR, T., CJ, T., E, U., GE, V., E, V., DH, V., L, W., MT, W., SM, W., M, W., LA, W., Z, W., C, X., D, Z., JL, R., E, M., SM, F., D, B., C, D., DG, M., JM, H., SJ, S., A, O., & N, W. (2024). De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2024.04.07.24305438

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pubmed · retrieved 2026-09-26T22:46:55.091Z