De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

Lisfeld J, Chinn IK, Yuan B, Casar C, Müller C, Elron E, Zaks Hoffer G, Orenstein N, Tveten K, Delanne J, Safraou H, Denommé-Pichon AS, Aref-Eshghi E, Robin NH, Rothrock ED, Wentzensen IM, Messer GJ, Schnur RE, Rabin R, Lewis S, Sleutels F, Kant SG, Lupski JR, Kutsche K, Harms FL

Open source

DOI
10.1016/j.ajhg.2026.09.018
Published
2026 Oct 20
Container
American journal of human genetics
Publisher
Not recorded
Open access
unknown

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.09.018,
  title = {De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.},
  author = {Lisfeld J and Chinn IK and Yuan B and Casar C and Müller C and Elron E and Zaks Hoffer G and Orenstein N and Tveten K and Delanne J and Safraou H and Denommé-Pichon AS and Aref-Eshghi E and Robin NH and Rothrock ED and Wentzensen IM and Messer GJ and Schnur RE and Rabin R and Lewis S and Sleutels F and Kant SG and Lupski JR and Kutsche K and Harms FL},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2026.09.018},
  url = {https://doi.org/10.1016/j.ajhg.2026.09.018}
}

RIS

TY  - JOUR
TI  - De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.
AU  - Lisfeld J
AU  - Chinn IK
AU  - Yuan B
AU  - Casar C
AU  - Müller C
AU  - Elron E
AU  - Zaks Hoffer G
AU  - Orenstein N
AU  - Tveten K
AU  - Delanne J
AU  - Safraou H
AU  - Denommé-Pichon AS
AU  - Aref-Eshghi E
AU  - Robin NH
AU  - Rothrock ED
AU  - Wentzensen IM
AU  - Messer GJ
AU  - Schnur RE
AU  - Rabin R
AU  - Lewis S
AU  - Sleutels F
AU  - Kant SG
AU  - Lupski JR
AU  - Kutsche K
AU  - Harms FL
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2026.09.018
UR  - https://doi.org/10.1016/j.ajhg.2026.09.018
ER  - 

APA

J, L., IK, C., B, Y., C, C., C, M., E, E., G, Z. H., N, O., K, T., J, D., H, S., AS, D., E, A., NH, R., ED, R., IM, W., GJ, M., RE, S., R, R., S, L., F, S., SG, K., JR, L., K, K., & FL, H. (2026). De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.09.018

Source records