GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM

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DOI: 10.1038/s41588-021-01010-x
Published: 2022 Mar
Container: Nature genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41588-021-01010-x,
  title = {GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.},
  author = {Hsieh TC and Bar-Haim A and Moosa S and Ehmke N and Gripp KW and Pantel JT and Danyel M and Mensah MA and Horn D and Rosnev S and Fleischer N and Bonini G and Hustinx A and Schmid A and Knaus A and Javanmardi B and Klinkhammer H and Lesmann H and Sivalingam S and Kamphans T and Meiswinkel W and Ebstein F and Krüger E and Küry S and Bézieau S and Schmidt A and Peters S and Engels H and Mangold E and Kreiß M and Cremer K and Perne C and Betz RC and Bender T and Grundmann-Hauser K and Haack TB and Wagner M and Brunet T and Bentzen HB and Averdunk L and Coetzer KC and Lyon GJ and Spielmann M and Schaaf CP and Mundlos S and Nöthen MM and Krawitz PM},
  year = {2022},
  journal = {Nature genetics},
  doi = {10.1038/s41588-021-01010-x},
  url = {https://doi.org/10.1038/s41588-021-01010-x}
}

RIS

TY  - JOUR
TI  - GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
AU  - Hsieh TC
AU  - Bar-Haim A
AU  - Moosa S
AU  - Ehmke N
AU  - Gripp KW
AU  - Pantel JT
AU  - Danyel M
AU  - Mensah MA
AU  - Horn D
AU  - Rosnev S
AU  - Fleischer N
AU  - Bonini G
AU  - Hustinx A
AU  - Schmid A
AU  - Knaus A
AU  - Javanmardi B
AU  - Klinkhammer H
AU  - Lesmann H
AU  - Sivalingam S
AU  - Kamphans T
AU  - Meiswinkel W
AU  - Ebstein F
AU  - Krüger E
AU  - Küry S
AU  - Bézieau S
AU  - Schmidt A
AU  - Peters S
AU  - Engels H
AU  - Mangold E
AU  - Kreiß M
AU  - Cremer K
AU  - Perne C
AU  - Betz RC
AU  - Bender T
AU  - Grundmann-Hauser K
AU  - Haack TB
AU  - Wagner M
AU  - Brunet T
AU  - Bentzen HB
AU  - Averdunk L
AU  - Coetzer KC
AU  - Lyon GJ
AU  - Spielmann M
AU  - Schaaf CP
AU  - Mundlos S
AU  - Nöthen MM
AU  - Krawitz PM
PY  - 2022
JO  - Nature genetics
DO  - 10.1038/s41588-021-01010-x
UR  - https://doi.org/10.1038/s41588-021-01010-x
ER  -

APA

TC, H., A, B., S, M., N, E., KW, G., JT, P., M, D., MA, M., D, H., S, R., N, F., G, B., A, H., A, S., A, K., B, J., H, K., H, L., S, S., T, K., W, M., F, E., E, K., S, K., S, B., A, S., S, P., H, E., E, M., M, K., K, C., C, P., RC, B., T, B., K, G., TB, H., M, W., T, B., HB, B., L, A., KC, C., GJ, L., M, S., CP, S., S, M., MM, N., & PM, K. (2022). GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.. Nature genetics. https://doi.org/10.1038/s41588-021-01010-x

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pubmed · retrieved 2026-09-25T11:38:03.123Z