Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.

Pailler-Pradeau C, Lemée MV, Cevallos C, Mattioli F, Chrast J, Bassani S, Darvish H, Zanni G, Colafati GS, Travaglini L, Nicita F, Amudhavalli SM, Lawson C, Gleeson JG, Stuewe I, Friedman L, Zaki MS, Bell L, Brischoux EB, Kuentz P, Fuhrmann N, Lampkemeyer V, Netzer C, Smol T, Vincent-Delorme C, Iqbal Z, Toft M, Zehra T, Jafri SK, Fatima A, Ullah M, Akhtar Z, Shan T, Firasat S, Firouzabadi SG, Tafakhori A, Sharbatkhori S, Jamali F, Balbach M, Hildebrandt F, O'Heir E, Pais L, Sanchis-Juan A, Talkowski ME, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Waisfisz Q, Kleinendorst L, Ambrosini G, Kuchta T, Kutalik Z, Guex N, Antonarakis SE, Ansar M, Golzio C, Reymond A

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DOI: 10.64898/2026.09.24.26361611
Published: 2026 Oct 14
Container: medRxiv : the preprint server for health sciences
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.64898/2026.09.24.26361611,
  title = {Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.},
  author = {Pailler-Pradeau C and Lemée MV and Cevallos C and Mattioli F and Chrast J and Bassani S and Darvish H and Zanni G and Colafati GS and Travaglini L and Nicita F and Amudhavalli SM and Lawson C and Gleeson JG and Stuewe I and Friedman L and Zaki MS and Bell L and Brischoux EB and Kuentz P and Fuhrmann N and Lampkemeyer V and Netzer C and Smol T and Vincent-Delorme C and Iqbal Z and Toft M and Zehra T and Jafri SK and Fatima A and Ullah M and Akhtar Z and Shan T and Firasat S and Firouzabadi SG and Tafakhori A and Sharbatkhori S and Jamali F and Balbach M and Hildebrandt F and O'Heir E and Pais L and Sanchis-Juan A and Talkowski ME and Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium and Waisfisz Q and Kleinendorst L and Ambrosini G and Kuchta T and Kutalik Z and Guex N and Antonarakis SE and Ansar M and Golzio C and Reymond A},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.09.24.26361611},
  url = {https://doi.org/10.64898/2026.09.24.26361611}
}

RIS

TY  - JOUR
TI  - Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.
AU  - Pailler-Pradeau C
AU  - Lemée MV
AU  - Cevallos C
AU  - Mattioli F
AU  - Chrast J
AU  - Bassani S
AU  - Darvish H
AU  - Zanni G
AU  - Colafati GS
AU  - Travaglini L
AU  - Nicita F
AU  - Amudhavalli SM
AU  - Lawson C
AU  - Gleeson JG
AU  - Stuewe I
AU  - Friedman L
AU  - Zaki MS
AU  - Bell L
AU  - Brischoux EB
AU  - Kuentz P
AU  - Fuhrmann N
AU  - Lampkemeyer V
AU  - Netzer C
AU  - Smol T
AU  - Vincent-Delorme C
AU  - Iqbal Z
AU  - Toft M
AU  - Zehra T
AU  - Jafri SK
AU  - Fatima A
AU  - Ullah M
AU  - Akhtar Z
AU  - Shan T
AU  - Firasat S
AU  - Firouzabadi SG
AU  - Tafakhori A
AU  - Sharbatkhori S
AU  - Jamali F
AU  - Balbach M
AU  - Hildebrandt F
AU  - O'Heir E
AU  - Pais L
AU  - Sanchis-Juan A
AU  - Talkowski ME
AU  - Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
AU  - Waisfisz Q
AU  - Kleinendorst L
AU  - Ambrosini G
AU  - Kuchta T
AU  - Kutalik Z
AU  - Guex N
AU  - Antonarakis SE
AU  - Ansar M
AU  - Golzio C
AU  - Reymond A
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.09.24.26361611
UR  - https://doi.org/10.64898/2026.09.24.26361611
ER  -

APA

C, P., MV, L., C, C., F, M., J, C., S, B., H, D., G, Z., GS, C., L, T., F, N., SM, A., C, L., JG, G., I, S., L, F., MS, Z., L, B., EB, B., P, K., N, F., V, L., C, N., T, S., C, V., Z, I., M, T., T, Z., SK, J., A, F., M, U., Z, A., T, S., S, F., SG, F., A, T., S, S., F, J., M, B., F, H., E, O., L, P., A, S., ME, T., Consortium, G. R. T. E. T. G. O. R. D. (., Q, W., L, K., G, A., T, K., Z, K., N, G., SE, A., M, A., C, G., & A, R. (2026). Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.09.24.26361611

Source records

pubmed · retrieved 2026-11-10T15:52:45.557Z
europe-pmc · retrieved 2026-11-10T15:52:45.545Z