De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

Fluri R, Coll-Tané M, Brunet T, Cogne B, Conrad S, Nizon M, Nicita F, Travaglini L, Novelli A, Glissmeyer M, Peterson A, Buchan JG, Serber D, Meier K, Gärtner J, Diegmann S, Pingault V, Attie-Bitach T, Courtin T, Schneider MC, Hung W, Sahai I, O'Grady L, Steindl K, Mehta SG, Depienne C, Heron D, Keren B, Heide S, McKee S, Laccone F, Dyer LM, Melver C, Motter C, Jones WD, Wilson ZT, Vats D, Huß K, Zweier C, Sticht H, Gregor A

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DOI: 10.1016/j.ajhg.2026.05.012
Published: 2026 Jul 2
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.05.012,
  title = {De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.},
  author = {Fluri R and Coll-Tané M and Brunet T and Cogne B and Conrad S and Nizon M and Nicita F and Travaglini L and Novelli A and Glissmeyer M and Peterson A and Buchan JG and Serber D and Meier K and Gärtner J and Diegmann S and Pingault V and Attie-Bitach T and Courtin T and Schneider MC and Hung W and Sahai I and O'Grady L and Steindl K and Mehta SG and Depienne C and Heron D and Keren B and Heide S and McKee S and Laccone F and Dyer LM and Melver C and Motter C and Jones WD and Wilson ZT and Vats D and Huß K and Zweier C and Sticht H and Gregor A},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2026.05.012},
  url = {https://doi.org/10.1016/j.ajhg.2026.05.012}
}

RIS

TY  - JOUR
TI  - De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
AU  - Fluri R
AU  - Coll-Tané M
AU  - Brunet T
AU  - Cogne B
AU  - Conrad S
AU  - Nizon M
AU  - Nicita F
AU  - Travaglini L
AU  - Novelli A
AU  - Glissmeyer M
AU  - Peterson A
AU  - Buchan JG
AU  - Serber D
AU  - Meier K
AU  - Gärtner J
AU  - Diegmann S
AU  - Pingault V
AU  - Attie-Bitach T
AU  - Courtin T
AU  - Schneider MC
AU  - Hung W
AU  - Sahai I
AU  - O'Grady L
AU  - Steindl K
AU  - Mehta SG
AU  - Depienne C
AU  - Heron D
AU  - Keren B
AU  - Heide S
AU  - McKee S
AU  - Laccone F
AU  - Dyer LM
AU  - Melver C
AU  - Motter C
AU  - Jones WD
AU  - Wilson ZT
AU  - Vats D
AU  - Huß K
AU  - Zweier C
AU  - Sticht H
AU  - Gregor A
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2026.05.012
UR  - https://doi.org/10.1016/j.ajhg.2026.05.012
ER  -

APA

R, F., M, C., T, B., B, C., S, C., M, N., F, N., L, T., A, N., M, G., A, P., JG, B., D, S., K, M., J, G., S, D., V, P., T, A., T, C., MC, S., W, H., I, S., L, O., K, S., SG, M., C, D., D, H., B, K., S, H., S, M., F, L., LM, D., C, M., C, M., WD, J., ZT, W., D, V., K, H., C, Z., H, S., & A, G. (2026). De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.05.012

Source records

pubmed · retrieved 2026-09-26T22:45:41.742Z