Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Latner DR, Hiatt SM, Finnila CR, Kelley WV, Johnston M, Patrick-Esteve J, Elkhateeb N, Kamel MA, Barakat TS, van Slegtenhorst M, Mensah MA, Pang L, Bowman P, Lefroy H, Cleaver R, Palmquist R, Karamian AGS, Smith EE, Bachir S, Monaghan KG, Wentzensen IM, Stevens CA, Pouncey J, Fieg E, Krier JB, de Gusmao CM, Pallais JC, Skidmore PT, Bisarad P, Bakhtiari S, Kruer MC, Philipps G, Asadollahi M, Keramatipour M, Blanc X, Ranza E, Undiagnosed Diseases Network (UDN), Korff CM, Innis JW, Cooper GM, Antonarakis SE

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DOI: 10.1002/ajmg.a.70241
Published: 2026 Jul 15
Container: American journal of medical genetics. Part A
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.70241,
  title = {Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.},
  author = {Latner DR and Hiatt SM and Finnila CR and Kelley WV and Johnston M and Patrick-Esteve J and Elkhateeb N and Kamel MA and Barakat TS and van Slegtenhorst M and Mensah MA and Pang L and Bowman P and Lefroy H and Cleaver R and Palmquist R and Karamian AGS and Smith EE and Bachir S and Monaghan KG and Wentzensen IM and Stevens CA and Pouncey J and Fieg E and Krier JB and de Gusmao CM and Pallais JC and Skidmore PT and Bisarad P and Bakhtiari S and Kruer MC and Philipps G and Asadollahi M and Keramatipour M and Blanc X and Ranza E and Undiagnosed Diseases Network (UDN) and Korff CM and Innis JW and Cooper GM and Antonarakis SE},
  year = {2026},
  journal = {American journal of medical genetics. Part A},
  doi = {10.1002/ajmg.a.70241},
  url = {https://doi.org/10.1002/ajmg.a.70241}
}

RIS

TY  - JOUR
TI  - Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
AU  - Latner DR
AU  - Hiatt SM
AU  - Finnila CR
AU  - Kelley WV
AU  - Johnston M
AU  - Patrick-Esteve J
AU  - Elkhateeb N
AU  - Kamel MA
AU  - Barakat TS
AU  - van Slegtenhorst M
AU  - Mensah MA
AU  - Pang L
AU  - Bowman P
AU  - Lefroy H
AU  - Cleaver R
AU  - Palmquist R
AU  - Karamian AGS
AU  - Smith EE
AU  - Bachir S
AU  - Monaghan KG
AU  - Wentzensen IM
AU  - Stevens CA
AU  - Pouncey J
AU  - Fieg E
AU  - Krier JB
AU  - de Gusmao CM
AU  - Pallais JC
AU  - Skidmore PT
AU  - Bisarad P
AU  - Bakhtiari S
AU  - Kruer MC
AU  - Philipps G
AU  - Asadollahi M
AU  - Keramatipour M
AU  - Blanc X
AU  - Ranza E
AU  - Undiagnosed Diseases Network (UDN)
AU  - Korff CM
AU  - Innis JW
AU  - Cooper GM
AU  - Antonarakis SE
PY  - 2026
JO  - American journal of medical genetics. Part A
DO  - 10.1002/ajmg.a.70241
UR  - https://doi.org/10.1002/ajmg.a.70241
ER  -

APA

DR, L., SM, H., CR, F., WV, K., M, J., J, P., N, E., MA, K., TS, B., M, V. S., MA, M., L, P., P, B., H, L., R, C., R, P., AGS, K., EE, S., S, B., KG, M., IM, W., CA, S., J, P., E, F., JB, K., CM, D. G., JC, P., PT, S., P, B., S, B., MC, K., G, P., M, A., M, K., X, B., E, R., (UDN), U. D. N., CM, K., JW, I., GM, C., & SE, A. (2026). Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.70241

Source records

pubmed · retrieved 2026-09-25T00:06:13.515Z