CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P

Open source

DOI
10.1016/j.xhgg.2024.100380
Published
2025 Jan 9
Container
HGG advances
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.xhgg.2024.100380,
  title = {CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.},
  author = {van der Laan L and Silva A and Kleinendorst L and Rooney K and Haghshenas S and Lauffer P and Alanay Y and Bhai P and Brusco A and de Munnik S and de Vries BBA and Vega AD and Engelen M and Herkert JC and Hochstenbach R and Hopman S and Kant SG and Kira R and Kato M and Keren B and Kroes HY and Levy MA and Lock-Hock N and Maas SM and Mancini GMS and Marcelis C and Matsumoto N and Mizuguchi T and Mussa A and Mignot C and Närhi A and Nordgren A and Pfundt R and Polstra AM and Trajkova S and van Bever Y and José van den Boogaard M and van der Smagt JJ and Barakat TS and Alders M and Mannens MMAM and Sadikovic B and van Haelst MM and Henneman P},
  year = {2025},
  journal = {HGG advances},
  doi = {10.1016/j.xhgg.2024.100380},
  url = {https://doi.org/10.1016/j.xhgg.2024.100380}
}

RIS

TY  - JOUR
TI  - CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
AU  - van der Laan L
AU  - Silva A
AU  - Kleinendorst L
AU  - Rooney K
AU  - Haghshenas S
AU  - Lauffer P
AU  - Alanay Y
AU  - Bhai P
AU  - Brusco A
AU  - de Munnik S
AU  - de Vries BBA
AU  - Vega AD
AU  - Engelen M
AU  - Herkert JC
AU  - Hochstenbach R
AU  - Hopman S
AU  - Kant SG
AU  - Kira R
AU  - Kato M
AU  - Keren B
AU  - Kroes HY
AU  - Levy MA
AU  - Lock-Hock N
AU  - Maas SM
AU  - Mancini GMS
AU  - Marcelis C
AU  - Matsumoto N
AU  - Mizuguchi T
AU  - Mussa A
AU  - Mignot C
AU  - Närhi A
AU  - Nordgren A
AU  - Pfundt R
AU  - Polstra AM
AU  - Trajkova S
AU  - van Bever Y
AU  - José van den Boogaard M
AU  - van der Smagt JJ
AU  - Barakat TS
AU  - Alders M
AU  - Mannens MMAM
AU  - Sadikovic B
AU  - van Haelst MM
AU  - Henneman P
PY  - 2025
JO  - HGG advances
DO  - 10.1016/j.xhgg.2024.100380
UR  - https://doi.org/10.1016/j.xhgg.2024.100380
ER  -

APA

L, V. D. L., A, S., L, K., K, R., S, H., P, L., Y, A., P, B., A, B., S, D. M., BBA, D. V., AD, V., M, E., JC, H., R, H., S, H., SG, K., R, K., M, K., B, K., HY, K., MA, L., N, L., SM, M., GMS, M., C, M., N, M., T, M., A, M., C, M., A, N., A, N., R, P., AM, P., S, T., Y, V. B., M, J. V. D. B., JJ, V. D. S., TS, B., M, A., MMAM, M., B, S., MM, V. H., & P, H. (2025). CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.. HGG advances. https://doi.org/10.1016/j.xhgg.2024.100380

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