Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM

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DOI: 10.1016/j.ajhg.2024.11.009
Published: 2025 Jan 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.2024.11.009,
  title = {Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.},
  author = {Sabeh P and Dumas SA and Maios C and Daghar H and Korzeniowski M and Rousseau J and Lines M and Guerin A and Millichap JJ and Landsverk M and Grebe T and Lindstrom K and Strober J and Ait Mouhoub T and Zweier C and Steinraths M and Hebebrand M and Callewaert B and Abou Jamra R and Kautza-Lucht M and Wegler M and Kruszka P and Kumps C and Banne E and Waberski MB and Dieux A and Raible S and Krantz I and Medne L and Pechter K and Villard L and Guerrini R and Bianchini C and Barba C and Mei D and Blanc X and Kallay C and Ranza E and Yang XR and O'Heir E and Donald KA and Murugasen S and Bruwer Z and Calikoglu M and Mathews JM and Lesieur-Sebellin M and Baujat G and Derive N and Pierson TM and Murrell JR and Shillington A and Ormieres C and Rondeau S and Reis A and Fernandez-Jaen A and Au PYB and Sweetser DA and Briere LC and Couque N and Perrin L and Schymick J and Gueguen P and Lefebvre M and Van Andel M and Juusola J and Antonarakis SE and Parker JA and Burnett BG and Campeau PM},
  year = {2025},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2024.11.009},
  url = {https://doi.org/10.1016/j.ajhg.2024.11.009}
}

RIS

TY  - JOUR
TI  - Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
AU  - Sabeh P
AU  - Dumas SA
AU  - Maios C
AU  - Daghar H
AU  - Korzeniowski M
AU  - Rousseau J
AU  - Lines M
AU  - Guerin A
AU  - Millichap JJ
AU  - Landsverk M
AU  - Grebe T
AU  - Lindstrom K
AU  - Strober J
AU  - Ait Mouhoub T
AU  - Zweier C
AU  - Steinraths M
AU  - Hebebrand M
AU  - Callewaert B
AU  - Abou Jamra R
AU  - Kautza-Lucht M
AU  - Wegler M
AU  - Kruszka P
AU  - Kumps C
AU  - Banne E
AU  - Waberski MB
AU  - Dieux A
AU  - Raible S
AU  - Krantz I
AU  - Medne L
AU  - Pechter K
AU  - Villard L
AU  - Guerrini R
AU  - Bianchini C
AU  - Barba C
AU  - Mei D
AU  - Blanc X
AU  - Kallay C
AU  - Ranza E
AU  - Yang XR
AU  - O'Heir E
AU  - Donald KA
AU  - Murugasen S
AU  - Bruwer Z
AU  - Calikoglu M
AU  - Mathews JM
AU  - Lesieur-Sebellin M
AU  - Baujat G
AU  - Derive N
AU  - Pierson TM
AU  - Murrell JR
AU  - Shillington A
AU  - Ormieres C
AU  - Rondeau S
AU  - Reis A
AU  - Fernandez-Jaen A
AU  - Au PYB
AU  - Sweetser DA
AU  - Briere LC
AU  - Couque N
AU  - Perrin L
AU  - Schymick J
AU  - Gueguen P
AU  - Lefebvre M
AU  - Van Andel M
AU  - Juusola J
AU  - Antonarakis SE
AU  - Parker JA
AU  - Burnett BG
AU  - Campeau PM
PY  - 2025
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2024.11.009
UR  - https://doi.org/10.1016/j.ajhg.2024.11.009
ER  -

APA

P, S., SA, D., C, M., H, D., M, K., J, R., M, L., A, G., JJ, M., M, L., T, G., K, L., J, S., T, A. M., C, Z., M, S., M, H., B, C., R, A. J., M, K., M, W., P, K., C, K., E, B., MB, W., A, D., S, R., I, K., L, M., K, P., L, V., R, G., C, B., C, B., D, M., X, B., C, K., E, R., XR, Y., E, O., KA, D., S, M., Z, B., M, C., JM, M., M, L., G, B., N, D., TM, P., JR, M., A, S., C, O., S, R., A, R., A, F., PYB, A., DA, S., LC, B., N, C., L, P., J, S., P, G., M, L., M, V. A., J, J., SE, A., JA, P., BG, B., & PM, C. (2025). Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2024.11.009

Source records

pubmed · retrieved 2026-09-26T14:31:15.839Z