Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL

Open source

DOI: 10.1038/s41419-024-06768-6
Published: 2024 May 30
Container: Cell death & disease
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41419-024-06768-6,
  title = {Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.},
  author = {Werren EA and Peirent ER and Jantti H and Guxholli A and Srivastava KR and Orenstein N and Narayanan V and Wiszniewski W and Dawidziuk M and Gawlinski P and Umair M and Khan A and Khan SN and Geneviève D and Lehalle D and van Gassen KLI and Giltay JC and Oegema R and van Jaarsveld RH and Rafiullah R and Rappold GA and Rabin R and Pappas JG and Wheeler MM and Bamshad MJ and Tsan YC and Johnson MB and Keegan CE and Srivastava A and Bielas SL},
  year = {2024},
  journal = {Cell death \& disease},
  doi = {10.1038/s41419-024-06768-6},
  url = {https://doi.org/10.1038/s41419-024-06768-6}
}

RIS

TY  - JOUR
TI  - Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
AU  - Werren EA
AU  - Peirent ER
AU  - Jantti H
AU  - Guxholli A
AU  - Srivastava KR
AU  - Orenstein N
AU  - Narayanan V
AU  - Wiszniewski W
AU  - Dawidziuk M
AU  - Gawlinski P
AU  - Umair M
AU  - Khan A
AU  - Khan SN
AU  - Geneviève D
AU  - Lehalle D
AU  - van Gassen KLI
AU  - Giltay JC
AU  - Oegema R
AU  - van Jaarsveld RH
AU  - Rafiullah R
AU  - Rappold GA
AU  - Rabin R
AU  - Pappas JG
AU  - Wheeler MM
AU  - Bamshad MJ
AU  - Tsan YC
AU  - Johnson MB
AU  - Keegan CE
AU  - Srivastava A
AU  - Bielas SL
PY  - 2024
JO  - Cell death & disease
DO  - 10.1038/s41419-024-06768-6
UR  - https://doi.org/10.1038/s41419-024-06768-6
ER  -

APA

EA, W., ER, P., H, J., A, G., KR, S., N, O., V, N., W, W., M, D., P, G., M, U., A, K., SN, K., D, G., D, L., KLI, V. G., JC, G., R, O., RH, V. J., R, R., GA, R., R, R., JG, P., MM, W., MJ, B., YC, T., MB, J., CE, K., A, S., & SL, B. (2024). Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.. Cell death & disease. https://doi.org/10.1038/s41419-024-06768-6

Source records

pubmed · retrieved 2026-09-26T01:23:08.028Z