Biallelic variants in the ERAD pathway gene JKAMP cause a neurodevelopmental disorder with urogenital manifestations

Reham Khalaf-Nazzal, Fida' Al-Hijawi, Bader Alhaddad, Huthaifa Haj Ahmad, Laura Harrold, James Fasham, Khadijah Bakur, Sarar Mohamed, Mosab Maree, Nishanka Ubeyratna, Jana Zaid, Michael Day, Eleanor Walker, Rebecca J. Almond, Imad Dweikat, May Bader, Hani Abu-Eitah, Lettie Rawlins, Peter D. Turnpenny, Andrew H. Crosby, Fowzan S. Alkuraya, Emma L. Baple, Joseph S. Leslie

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DOI: 10.1016/j.gim.2026.102792
Published: 2026-11
Container: Genetics in Medicine
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2026.102792,
  title = {Biallelic variants in the ERAD pathway gene JKAMP cause a neurodevelopmental disorder with urogenital manifestations},
  author = {Reham Khalaf-Nazzal and Fida' Al-Hijawi and Bader Alhaddad and Huthaifa Haj Ahmad and Laura Harrold and James Fasham and Khadijah Bakur and Sarar Mohamed and Mosab Maree and Nishanka Ubeyratna and Jana Zaid and Michael Day and Eleanor Walker and Rebecca J. Almond and Imad Dweikat and May Bader and Hani Abu-Eitah and Lettie Rawlins and Peter D. Turnpenny and Andrew H. Crosby and Fowzan S. Alkuraya and Emma L. Baple and Joseph S. Leslie},
  year = {2026},
  journal = {Genetics in Medicine},
  doi = {10.1016/j.gim.2026.102792},
  url = {https://doi.org/10.1016/j.gim.2026.102792}
}

RIS

TY  - JOUR
TI  - Biallelic variants in the ERAD pathway gene JKAMP cause a neurodevelopmental disorder with urogenital manifestations
AU  - Reham Khalaf-Nazzal
AU  - Fida' Al-Hijawi
AU  - Bader Alhaddad
AU  - Huthaifa Haj Ahmad
AU  - Laura Harrold
AU  - James Fasham
AU  - Khadijah Bakur
AU  - Sarar Mohamed
AU  - Mosab Maree
AU  - Nishanka Ubeyratna
AU  - Jana Zaid
AU  - Michael Day
AU  - Eleanor Walker
AU  - Rebecca J. Almond
AU  - Imad Dweikat
AU  - May Bader
AU  - Hani Abu-Eitah
AU  - Lettie Rawlins
AU  - Peter D. Turnpenny
AU  - Andrew H. Crosby
AU  - Fowzan S. Alkuraya
AU  - Emma L. Baple
AU  - Joseph S. Leslie
PY  - 2026
JO  - Genetics in Medicine
DO  - 10.1016/j.gim.2026.102792
UR  - https://doi.org/10.1016/j.gim.2026.102792
ER  -

APA

Khalaf-Nazzal, R., Al-Hijawi, F., Alhaddad, B., Ahmad, H. H., Harrold, L., Fasham, J., Bakur, K., Mohamed, S., Maree, M., Ubeyratna, N., Zaid, J., Day, M., Walker, E., Almond, R. J., Dweikat, I., Bader, M., Abu-Eitah, H., Rawlins, L., Turnpenny, P. D., Crosby, A. H., Alkuraya, F. S., Baple, E. L., & Leslie, J. S. (2026). Biallelic variants in the ERAD pathway gene JKAMP cause a neurodevelopmental disorder with urogenital manifestations. Genetics in Medicine. https://doi.org/10.1016/j.gim.2026.102792

Source records

crossref · retrieved 2026-11-10T05:48:27.628Z