Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

O'Donnell-Luria A, DiTroia S, OLeary MC, Pais L, Ganesh VS, Lemire G, OHeir E, Neale A, Pham A, VanNoy GE, Mangilog BE, Singer-Berk M, Sanchis-Juan A, Snow H, Abouhala S, Agu S, Amin M, Baxter SM, Blankenmeister B, Bujakowska KM, Carlston CM, Choufani S, Covill LE, England EM, Glaze C, Goodrich J, Groopman E, Laricchia K, Kern Lovgren A, Ma J, Martinez E, Mighton C, OLeary B, Osei-Owusu IA, Pajusalu S, Romo L, Russell K, Sangermano R, Seaby E, Serrano J, Shah G, Singh M, Socarras KM, Stenton SL, Udler MS, Weisburd B, Weksberg R, Williamson CE, Rare Genomes Project, Lennon N, Austin-Tse C, Brand H, Talkowski ME, MacArthur D, Wojcik MH, Rehm HL.

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DOI: 10.64898/2026.09.15.26363084
Published: 2026-09-20
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Cite this work

BibTeX

@article{allodium:10.64898/2026.09.15.26363084,
  title = {Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease},
  author = {O'Donnell-Luria A and  DiTroia S and  OLeary MC and  Pais L and  Ganesh VS and  Lemire G and  OHeir E and  Neale A and  Pham A and  VanNoy GE and  Mangilog BE and  Singer-Berk M and  Sanchis-Juan A and  Snow H and  Abouhala S and  Agu S and  Amin M and  Baxter SM and  Blankenmeister B and  Bujakowska KM and  Carlston CM and  Choufani S and  Covill LE and  England EM and  Glaze C and  Goodrich J and  Groopman E and  Laricchia K and  Kern Lovgren A and  Ma J and  Martinez E and  Mighton C and  OLeary B and  Osei-Owusu IA and  Pajusalu S and  Romo L and  Russell K and  Sangermano R and  Seaby E and  Serrano J and  Shah G and  Singh M and  Socarras KM and  Stenton SL and  Udler MS and  Weisburd B and  Weksberg R and  Williamson CE and  Rare Genomes Project and  Lennon N and  Austin-Tse C and  Brand H and  Talkowski ME and  MacArthur D and  Wojcik MH and  Rehm HL.},
  year = {2026},
  doi = {10.64898/2026.09.15.26363084},
  url = {https://doi.org/10.64898/2026.09.15.26363084}
}

RIS

TY  - JOUR
TI  - Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease
AU  - O'Donnell-Luria A
AU  -  DiTroia S
AU  -  OLeary MC
AU  -  Pais L
AU  -  Ganesh VS
AU  -  Lemire G
AU  -  OHeir E
AU  -  Neale A
AU  -  Pham A
AU  -  VanNoy GE
AU  -  Mangilog BE
AU  -  Singer-Berk M
AU  -  Sanchis-Juan A
AU  -  Snow H
AU  -  Abouhala S
AU  -  Agu S
AU  -  Amin M
AU  -  Baxter SM
AU  -  Blankenmeister B
AU  -  Bujakowska KM
AU  -  Carlston CM
AU  -  Choufani S
AU  -  Covill LE
AU  -  England EM
AU  -  Glaze C
AU  -  Goodrich J
AU  -  Groopman E
AU  -  Laricchia K
AU  -  Kern Lovgren A
AU  -  Ma J
AU  -  Martinez E
AU  -  Mighton C
AU  -  OLeary B
AU  -  Osei-Owusu IA
AU  -  Pajusalu S
AU  -  Romo L
AU  -  Russell K
AU  -  Sangermano R
AU  -  Seaby E
AU  -  Serrano J
AU  -  Shah G
AU  -  Singh M
AU  -  Socarras KM
AU  -  Stenton SL
AU  -  Udler MS
AU  -  Weisburd B
AU  -  Weksberg R
AU  -  Williamson CE
AU  -  Rare Genomes Project
AU  -  Lennon N
AU  -  Austin-Tse C
AU  -  Brand H
AU  -  Talkowski ME
AU  -  MacArthur D
AU  -  Wojcik MH
AU  -  Rehm HL.
PY  - 2026
DO  - 10.64898/2026.09.15.26363084
UR  - https://doi.org/10.64898/2026.09.15.26363084
ER  -

APA

A, O., S, D., MC, O., L, P., VS, G., G, L., E, O., A, N., A, P., GE, V., BE, M., M, S., A, S., H, S., S, A., S, A., M, A., SM, B., B, B., KM, B., CM, C., S, C., LE, C., EM, E., C, G., J, G., E, G., K, L., A, K. L., J, M., E, M., C, M., B, O., IA, O., S, P., L, R., K, R., R, S., E, S., J, S., G, S., M, S., KM, S., SL, S., MS, U., B, W., R, W., CE, W., Project, R. G., N, L., C, A., H, B., ME, T., D, M., MH, W., & HL., R. (2026). Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease. https://doi.org/10.64898/2026.09.15.26363084

Source records

europe-pmc · retrieved 2026-09-25T08:16:48.702Z