Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A

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DOI: 10.1038/s41431-023-01486-7
Published: 2024 Feb
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-023-01486-7,
  title = {Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.},
  author = {Lagorce D and Lebreton E and Matalonga L and Hongnat O and Chahdil M and Piscia D and Paramonov I and Ellwanger K and Köhler S and Robinson P and Graessner H and Beltran S and Lucano C and Hanauer M and Rath A},
  year = {2024},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-023-01486-7},
  url = {https://doi.org/10.1038/s41431-023-01486-7}
}

RIS

TY  - JOUR
TI  - Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
AU  - Lagorce D
AU  - Lebreton E
AU  - Matalonga L
AU  - Hongnat O
AU  - Chahdil M
AU  - Piscia D
AU  - Paramonov I
AU  - Ellwanger K
AU  - Köhler S
AU  - Robinson P
AU  - Graessner H
AU  - Beltran S
AU  - Lucano C
AU  - Hanauer M
AU  - Rath A
PY  - 2024
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-023-01486-7
UR  - https://doi.org/10.1038/s41431-023-01486-7
ER  -

APA

D, L., E, L., L, M., O, H., M, C., D, P., I, P., K, E., S, K., P, R., H, G., S, B., C, L., M, H., & A, R. (2024). Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-023-01486-7

Source records

pubmed · retrieved 2026-09-26T21:07:22.426Z
europe-pmc · retrieved 2026-09-26T21:07:22.428Z