Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Lord J, Pagnamenta AT, Vestito L, Walker S, Oquendo CJ, McGuigan AE, Ho A, Odhams C, Jacobsen JO, Mehta S, Reid E, O'Driscoll M, Watson CM, Crinnion LA, Robinson RL, Musgrave H, Martin RJ, James TP, Ross MT, Kyritsi M, Carnielli L, Walker N, Vucenovic D, Maheswari U, Baralle FE, Taylor JC, Ellingford JM, Kasperaviciute D, Hoa L, Elgar G, Brown MA, Smedley D, Baralle D

Open source

DOI: 10.64898/2026.03.19.26348811
Published: 2026 Mar 23
Container: medRxiv : the preprint server for health sciences
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.64898/2026.03.19.26348811,
  title = {Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.},
  author = {Lord J and Pagnamenta AT and Vestito L and Walker S and Oquendo CJ and McGuigan AE and Ho A and Odhams C and Jacobsen JO and Mehta S and Reid E and O'Driscoll M and Watson CM and Crinnion LA and Robinson RL and Musgrave H and Martin RJ and James TP and Ross MT and Kyritsi M and Carnielli L and Walker N and Vucenovic D and Maheswari U and Baralle FE and Taylor JC and Ellingford JM and Kasperaviciute D and Hoa L and Elgar G and Brown MA and Smedley D and Baralle D},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.03.19.26348811},
  url = {https://doi.org/10.64898/2026.03.19.26348811}
}

RIS

TY  - JOUR
TI  - Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.
AU  - Lord J
AU  - Pagnamenta AT
AU  - Vestito L
AU  - Walker S
AU  - Oquendo CJ
AU  - McGuigan AE
AU  - Ho A
AU  - Odhams C
AU  - Jacobsen JO
AU  - Mehta S
AU  - Reid E
AU  - O'Driscoll M
AU  - Watson CM
AU  - Crinnion LA
AU  - Robinson RL
AU  - Musgrave H
AU  - Martin RJ
AU  - James TP
AU  - Ross MT
AU  - Kyritsi M
AU  - Carnielli L
AU  - Walker N
AU  - Vucenovic D
AU  - Maheswari U
AU  - Baralle FE
AU  - Taylor JC
AU  - Ellingford JM
AU  - Kasperaviciute D
AU  - Hoa L
AU  - Elgar G
AU  - Brown MA
AU  - Smedley D
AU  - Baralle D
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.03.19.26348811
UR  - https://doi.org/10.64898/2026.03.19.26348811
ER  -

APA

J, L., AT, P., L, V., S, W., CJ, O., AE, M., A, H., C, O., JO, J., S, M., E, R., M, O., CM, W., LA, C., RL, R., H, M., RJ, M., TP, J., MT, R., M, K., L, C., N, W., D, V., U, M., FE, B., JC, T., JM, E., D, K., L, H., G, E., MA, B., D, S., & D, B. (2026). Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.03.19.26348811

Source records

pubmed · retrieved 2026-09-26T18:01:11.823Z