Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD, Wirta V, Lindstrand A, Buske OJ, Cederroth M, Nordgren A

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DOI: 10.1038/s41588-024-01941-1
Published: 2024 Nov
Container: Nature genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41588-024-01941-1,
  title = {Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.},
  author = {Delgado-Vega AM and Cederroth H and Taylan F and Ekholm K and Ek M and Thonberg H and Jemt A and Nilsson D and Eisfeldt J and Bilgrav Saether K and Höijer I and Akgun-Dogan O and Asano Y and Barakat TS and Batkovskyte D and Baynam G and Bodamer O and Chetruengchai W and Corcoran P and Couse M and Danis D and Demidov G and Dohi E and Erhardsson M and Fernandez-Luna L and Fujiwara T and Garg N and Giugliani R and Gonzaga-Jauregui C and Grigelioniene G and Groza T and Gunnarsson C and Hammarsjö A and Hammond CK and Hatirnaz Ng Ö and Hesketh S and Hettiarachchi D and Johansson Soller M and Kirmani UA and Kjellberg M and Kvarnung M and Kvlividze O and Lagerstedt-Robinson K and Lasko P and Lassmann T and Lau LYS and Laurie S and Lim WK and Liu Z and Lysenkova Wiklander M and Makay P and Maiga AB and Maya-González C and Meyn MS and Neethiraj R and Nigro V and Nordgren F and Nordlund J and Orrsjö S and Ottosson J and Ozbek U and Özdemir Ö and Partin C and Pearce DA and Peck R and Pedersen A and Pettersson M and Pongpanich M and Posada de la Paz M and Ramani A and Romero JA and Romero VI and Rosenquist R and Saw AM and Spencer M and Stattin EL and Srichomthong C and Tapia-Paez I and Taruscio D and Taylor JP and Tkemaladze T and Tully I and Tümer Z and van Zelst-Stams WAG and Verloes A and Västerviga E and Wang S and Yang R and Yamamoto S and Yépez VA and Zhang Q and Shotelersuk V and Wiafe SA and Alanay Y and Botto LD and Kirmani S and Lumaka A and Palmer EE and Puri RD and Wirta V and Lindstrand A and Buske OJ and Cederroth M and Nordgren A},
  year = {2024},
  journal = {Nature genetics},
  doi = {10.1038/s41588-024-01941-1},
  url = {https://doi.org/10.1038/s41588-024-01941-1}
}

RIS

TY  - JOUR
TI  - Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
AU  - Delgado-Vega AM
AU  - Cederroth H
AU  - Taylan F
AU  - Ekholm K
AU  - Ek M
AU  - Thonberg H
AU  - Jemt A
AU  - Nilsson D
AU  - Eisfeldt J
AU  - Bilgrav Saether K
AU  - Höijer I
AU  - Akgun-Dogan O
AU  - Asano Y
AU  - Barakat TS
AU  - Batkovskyte D
AU  - Baynam G
AU  - Bodamer O
AU  - Chetruengchai W
AU  - Corcoran P
AU  - Couse M
AU  - Danis D
AU  - Demidov G
AU  - Dohi E
AU  - Erhardsson M
AU  - Fernandez-Luna L
AU  - Fujiwara T
AU  - Garg N
AU  - Giugliani R
AU  - Gonzaga-Jauregui C
AU  - Grigelioniene G
AU  - Groza T
AU  - Gunnarsson C
AU  - Hammarsjö A
AU  - Hammond CK
AU  - Hatirnaz Ng Ö
AU  - Hesketh S
AU  - Hettiarachchi D
AU  - Johansson Soller M
AU  - Kirmani UA
AU  - Kjellberg M
AU  - Kvarnung M
AU  - Kvlividze O
AU  - Lagerstedt-Robinson K
AU  - Lasko P
AU  - Lassmann T
AU  - Lau LYS
AU  - Laurie S
AU  - Lim WK
AU  - Liu Z
AU  - Lysenkova Wiklander M
AU  - Makay P
AU  - Maiga AB
AU  - Maya-González C
AU  - Meyn MS
AU  - Neethiraj R
AU  - Nigro V
AU  - Nordgren F
AU  - Nordlund J
AU  - Orrsjö S
AU  - Ottosson J
AU  - Ozbek U
AU  - Özdemir Ö
AU  - Partin C
AU  - Pearce DA
AU  - Peck R
AU  - Pedersen A
AU  - Pettersson M
AU  - Pongpanich M
AU  - Posada de la Paz M
AU  - Ramani A
AU  - Romero JA
AU  - Romero VI
AU  - Rosenquist R
AU  - Saw AM
AU  - Spencer M
AU  - Stattin EL
AU  - Srichomthong C
AU  - Tapia-Paez I
AU  - Taruscio D
AU  - Taylor JP
AU  - Tkemaladze T
AU  - Tully I
AU  - Tümer Z
AU  - van Zelst-Stams WAG
AU  - Verloes A
AU  - Västerviga E
AU  - Wang S
AU  - Yang R
AU  - Yamamoto S
AU  - Yépez VA
AU  - Zhang Q
AU  - Shotelersuk V
AU  - Wiafe SA
AU  - Alanay Y
AU  - Botto LD
AU  - Kirmani S
AU  - Lumaka A
AU  - Palmer EE
AU  - Puri RD
AU  - Wirta V
AU  - Lindstrand A
AU  - Buske OJ
AU  - Cederroth M
AU  - Nordgren A
PY  - 2024
JO  - Nature genetics
DO  - 10.1038/s41588-024-01941-1
UR  - https://doi.org/10.1038/s41588-024-01941-1
ER  -

APA

AM, D., H, C., F, T., K, E., M, E., H, T., A, J., D, N., J, E., K, B. S., I, H., O, A., Y, A., TS, B., D, B., G, B., O, B., W, C., P, C., M, C., D, D., G, D., E, D., M, E., L, F., T, F., N, G., R, G., C, G., G, G., T, G., C, G., A, H., CK, H., Ö, H. N., S, H., D, H., M, J. S., UA, K., M, K., M, K., O, K., K, L., P, L., T, L., LYS, L., S, L., WK, L., Z, L., M, L. W., P, M., AB, M., C, M., MS, M., R, N., V, N., F, N., J, N., S, O., J, O., U, O., Ö, Ö., C, P., DA, P., R, P., A, P., M, P., M, P., M, P. D. L. P., A, R., JA, R., VI, R., R, R., AM, S., M, S., EL, S., C, S., I, T., D, T., JP, T., T, T., I, T., Z, T., WAG, V. Z., A, V., E, V., S, W., R, Y., S, Y., VA, Y., Q, Z., V, S., SA, W., Y, A., LD, B., S, K., A, L., EE, P., RD, P., V, W., A, L., OJ, B., M, C., & A, N. (2024). Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.. Nature genetics. https://doi.org/10.1038/s41588-024-01941-1

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pubmed · retrieved 2026-09-26T10:08:46.718Z