Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.

Baker PJ, Zhang Y, Bishop I, Cleveland ML, McAllan AL, Hollway GE, Vedururu R, Kumar A, Krishnaswamy R, Wan KL, Kaub PA, Brown EL, Narayanan DL, Deveson IW, CIRCA, AADRY, Gowdie P, Renton WD, Ojaimi S, Fennell AP, Masters SL

Open source

DOI: 10.70962/jhi.20260044
Published: 2026 Nov 2
Container: Journal of human immunity
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.70962/jhi.20260044,
  title = {Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.},
  author = {Baker PJ and Zhang Y and Bishop I and Cleveland ML and McAllan AL and Hollway GE and Vedururu R and Kumar A and Krishnaswamy R and Wan KL and Kaub PA and Brown EL and Narayanan DL and Deveson IW and CIRCA and AADRY and Gowdie P and Renton WD and Ojaimi S and Fennell AP and Masters SL},
  year = {2026},
  journal = {Journal of human immunity},
  doi = {10.70962/jhi.20260044},
  url = {https://doi.org/10.70962/jhi.20260044}
}

RIS

TY  - JOUR
TI  - Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.
AU  - Baker PJ
AU  - Zhang Y
AU  - Bishop I
AU  - Cleveland ML
AU  - McAllan AL
AU  - Hollway GE
AU  - Vedururu R
AU  - Kumar A
AU  - Krishnaswamy R
AU  - Wan KL
AU  - Kaub PA
AU  - Brown EL
AU  - Narayanan DL
AU  - Deveson IW
AU  - CIRCA
AU  - AADRY
AU  - Gowdie P
AU  - Renton WD
AU  - Ojaimi S
AU  - Fennell AP
AU  - Masters SL
PY  - 2026
JO  - Journal of human immunity
DO  - 10.70962/jhi.20260044
UR  - https://doi.org/10.70962/jhi.20260044
ER  -

APA

PJ, B., Y, Z., I, B., ML, C., AL, M., GE, H., R, V., A, K., R, K., KL, W., PA, K., EL, B., DL, N., IW, D., CIRCA, AADRY, P, G., WD, R., S, O., AP, F., & SL, M. (2026). Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.. Journal of human immunity. https://doi.org/10.70962/jhi.20260044

Source records

pubmed · retrieved 2026-09-25T01:11:02.044Z