Disease characteristics of SEPSECS deficiency: An international, retrospective, multicenter cohort study.

Killam BY, Knol MJ, Fradejas-Villar N, Chillon TS, Ruijter GJG, Bonte R, Abdulwahab F, Aldhalaan H, Alfaifi A, Alkuraya FS, Alsaif HS, Kiernan KA, Puppala AK, Baker L, Batten L, Chedrawi A, Dempsey JC, Doherty D, Faivre L, Gowda VK, Hashem MO, Heidari E, Garshasbi M, Inaba Y, Iwama K, Kinali M, Korinthenberg R, Lesca G, Maroofian R, Matsumoto N, Mazel B, Nelson SF, Neuteboom RF, Nicolescu CR, Olson H, Poduri A, Sasaki M, Schorling D, Signer RH, Srinivasan VM, Tamim A, Tavasoli AR, Tous E, Tyynismaa H, Visser WE, Vitobello A, Vlachou V, Wilke M, Adams HHH, Schomburg L, Schweizer U, Simonović M, Demirdas S

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DOI: 10.1016/j.gim.2026.102684
Published: 2026 Aug 14
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2026.102684,
  title = {Disease characteristics of SEPSECS deficiency: An international, retrospective, multicenter cohort study.},
  author = {Killam BY and Knol MJ and Fradejas-Villar N and Chillon TS and Ruijter GJG and Bonte R and Abdulwahab F and Aldhalaan H and Alfaifi A and Alkuraya FS and Alsaif HS and Kiernan KA and Puppala AK and Baker L and Batten L and Chedrawi A and Dempsey JC and Doherty D and Faivre L and Gowda VK and Hashem MO and Heidari E and Garshasbi M and Inaba Y and Iwama K and Kinali M and Korinthenberg R and Lesca G and Maroofian R and Matsumoto N and Mazel B and Nelson SF and Neuteboom RF and Nicolescu CR and Olson H and Poduri A and Sasaki M and Schorling D and Signer RH and Srinivasan VM and Tamim A and Tavasoli AR and Tous E and Tyynismaa H and Visser WE and Vitobello A and Vlachou V and Wilke M and Adams HHH and Schomburg L and Schweizer U and Simonović M and Demirdas S},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2026.102684},
  url = {https://doi.org/10.1016/j.gim.2026.102684}
}

RIS

TY  - JOUR
TI  - Disease characteristics of SEPSECS deficiency: An international, retrospective, multicenter cohort study.
AU  - Killam BY
AU  - Knol MJ
AU  - Fradejas-Villar N
AU  - Chillon TS
AU  - Ruijter GJG
AU  - Bonte R
AU  - Abdulwahab F
AU  - Aldhalaan H
AU  - Alfaifi A
AU  - Alkuraya FS
AU  - Alsaif HS
AU  - Kiernan KA
AU  - Puppala AK
AU  - Baker L
AU  - Batten L
AU  - Chedrawi A
AU  - Dempsey JC
AU  - Doherty D
AU  - Faivre L
AU  - Gowda VK
AU  - Hashem MO
AU  - Heidari E
AU  - Garshasbi M
AU  - Inaba Y
AU  - Iwama K
AU  - Kinali M
AU  - Korinthenberg R
AU  - Lesca G
AU  - Maroofian R
AU  - Matsumoto N
AU  - Mazel B
AU  - Nelson SF
AU  - Neuteboom RF
AU  - Nicolescu CR
AU  - Olson H
AU  - Poduri A
AU  - Sasaki M
AU  - Schorling D
AU  - Signer RH
AU  - Srinivasan VM
AU  - Tamim A
AU  - Tavasoli AR
AU  - Tous E
AU  - Tyynismaa H
AU  - Visser WE
AU  - Vitobello A
AU  - Vlachou V
AU  - Wilke M
AU  - Adams HHH
AU  - Schomburg L
AU  - Schweizer U
AU  - Simonović M
AU  - Demirdas S
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2026.102684
UR  - https://doi.org/10.1016/j.gim.2026.102684
ER  -

APA

BY, K., MJ, K., N, F., TS, C., GJG, R., R, B., F, A., H, A., A, A., FS, A., HS, A., KA, K., AK, P., L, B., L, B., A, C., JC, D., D, D., L, F., VK, G., MO, H., E, H., M, G., Y, I., K, I., M, K., R, K., G, L., R, M., N, M., B, M., SF, N., RF, N., CR, N., H, O., A, P., M, S., D, S., RH, S., VM, S., A, T., AR, T., E, T., H, T., WE, V., A, V., V, V., M, W., HHH, A., L, S., U, S., M, S., & S, D. (2026). Disease characteristics of SEPSECS deficiency: An international, retrospective, multicenter cohort study.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2026.102684

Source records

pubmed · retrieved 2026-09-25T10:30:10.543Z