Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Brünger T, Krey I, Kim S, Klöckner C, Myers SJ, Johannesen KM, Stefanski A, Taylor G, Perez-Palma E, Macnee M, Schorge S, Dahl RS, Yuan H, Perszyk RE, Kim S, Bajaj S, Helbig I, Pan JQ, Farrant M, Wollmuth L, Wyllie DJA, Kurganov E, Baez D, Zuberi S, Boßelmann CM, Lerche H, Mantegazza M, Cestèle S, May P, Ivaniuk A, Meskis MA, Hood V, Schust L, Goodspeed K, Kang JQ, Freed A, Gati C, Montanucci L, Wuster A, Trinidad M, Froelich S, Deng AT, Serrano ÁA, Borovikov A, Sharkov A, Bouman A, Hajianpour MJ, Pal DK, Danvoye L, Lederer D, Balci TR, Hagebeuk EEO, Heidlebaugh A, Oetjens K, Hoffman TL, Striano P, Williams SD, van Engelen K, Howell KB, Khoury J, Benke TA, Strehlow V, Platzer K, Ramsey A, Manaster L, Malepati S, Fox P, Noebels J, Chung W, Poduri A, Stripe LL, Ruggiero SM, Cohen S, Smith L, Boesch S, Wilmarth O, Prentice AJ, Cha E, Budnik N, Hommersom MP, Kramer A, Vanoye CG, Zhang GQ, Nothnagel M, Palotie A, Daly MJ, George AL Jr, Zarate YA, Brunklaus A, Traynelis SF, Møller RS, Lemke JR, Lal D

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DOI
10.64898/2026.03.05.26347086
Published
2026 Mar 6
Container
medRxiv : the preprint server for health sciences
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.64898/2026.03.05.26347086,
  title = {Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.},
  author = {Brünger T and Krey I and Kim S and Klöckner C and Myers SJ and Johannesen KM and Stefanski A and Taylor G and Perez-Palma E and Macnee M and Schorge S and Dahl RS and Yuan H and Perszyk RE and Kim S and Bajaj S and Helbig I and Pan JQ and Farrant M and Wollmuth L and Wyllie DJA and Kurganov E and Baez D and Zuberi S and Boßelmann CM and Lerche H and Mantegazza M and Cestèle S and May P and Ivaniuk A and Meskis MA and Hood V and Schust L and Goodspeed K and Kang JQ and Freed A and Gati C and Montanucci L and Wuster A and Trinidad M and Froelich S and Deng AT and Serrano ÁA and Borovikov A and Sharkov A and Bouman A and Hajianpour MJ and Pal DK and Danvoye L and Lederer D and Balci TR and Hagebeuk EEO and Heidlebaugh A and Oetjens K and Hoffman TL and Striano P and Williams SD and van Engelen K and Howell KB and Khoury J and Benke TA and Strehlow V and Platzer K and Ramsey A and Manaster L and Malepati S and Fox P and Noebels J and Chung W and Poduri A and Stripe LL and Ruggiero SM and Cohen S and Smith L and Boesch S and Wilmarth O and Prentice AJ and Cha E and Budnik N and Hommersom MP and Kramer A and Vanoye CG and Zhang GQ and Nothnagel M and Palotie A and Daly MJ and George AL Jr and Zarate YA and Brunklaus A and Traynelis SF and Møller RS and Lemke JR and Lal D},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.03.05.26347086},
  url = {https://doi.org/10.64898/2026.03.05.26347086}
}

RIS

TY  - JOUR
TI  - Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
AU  - Brünger T
AU  - Krey I
AU  - Kim S
AU  - Klöckner C
AU  - Myers SJ
AU  - Johannesen KM
AU  - Stefanski A
AU  - Taylor G
AU  - Perez-Palma E
AU  - Macnee M
AU  - Schorge S
AU  - Dahl RS
AU  - Yuan H
AU  - Perszyk RE
AU  - Kim S
AU  - Bajaj S
AU  - Helbig I
AU  - Pan JQ
AU  - Farrant M
AU  - Wollmuth L
AU  - Wyllie DJA
AU  - Kurganov E
AU  - Baez D
AU  - Zuberi S
AU  - Boßelmann CM
AU  - Lerche H
AU  - Mantegazza M
AU  - Cestèle S
AU  - May P
AU  - Ivaniuk A
AU  - Meskis MA
AU  - Hood V
AU  - Schust L
AU  - Goodspeed K
AU  - Kang JQ
AU  - Freed A
AU  - Gati C
AU  - Montanucci L
AU  - Wuster A
AU  - Trinidad M
AU  - Froelich S
AU  - Deng AT
AU  - Serrano ÁA
AU  - Borovikov A
AU  - Sharkov A
AU  - Bouman A
AU  - Hajianpour MJ
AU  - Pal DK
AU  - Danvoye L
AU  - Lederer D
AU  - Balci TR
AU  - Hagebeuk EEO
AU  - Heidlebaugh A
AU  - Oetjens K
AU  - Hoffman TL
AU  - Striano P
AU  - Williams SD
AU  - van Engelen K
AU  - Howell KB
AU  - Khoury J
AU  - Benke TA
AU  - Strehlow V
AU  - Platzer K
AU  - Ramsey A
AU  - Manaster L
AU  - Malepati S
AU  - Fox P
AU  - Noebels J
AU  - Chung W
AU  - Poduri A
AU  - Stripe LL
AU  - Ruggiero SM
AU  - Cohen S
AU  - Smith L
AU  - Boesch S
AU  - Wilmarth O
AU  - Prentice AJ
AU  - Cha E
AU  - Budnik N
AU  - Hommersom MP
AU  - Kramer A
AU  - Vanoye CG
AU  - Zhang GQ
AU  - Nothnagel M
AU  - Palotie A
AU  - Daly MJ
AU  - George AL Jr
AU  - Zarate YA
AU  - Brunklaus A
AU  - Traynelis SF
AU  - Møller RS
AU  - Lemke JR
AU  - Lal D
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.03.05.26347086
UR  - https://doi.org/10.64898/2026.03.05.26347086
ER  -

APA

T, B., I, K., S, K., C, K., SJ, M., KM, J., A, S., G, T., E, P., M, M., S, S., RS, D., H, Y., RE, P., S, K., S, B., I, H., JQ, P., M, F., L, W., DJA, W., E, K., D, B., S, Z., CM, B., H, L., M, M., S, C., P, M., A, I., MA, M., V, H., L, S., K, G., JQ, K., A, F., C, G., L, M., A, W., M, T., S, F., AT, D., ÁA, S., A, B., A, S., A, B., MJ, H., DK, P., L, D., D, L., TR, B., EEO, H., A, H., K, O., TL, H., P, S., SD, W., K, V. E., KB, H., J, K., TA, B., V, S., K, P., A, R., L, M., S, M., P, F., J, N., W, C., A, P., LL, S., SM, R., S, C., L, S., S, B., O, W., AJ, P., E, C., N, B., MP, H., A, K., CG, V., GQ, Z., M, N., A, P., MJ, D., Jr, G. A., YA, Z., A, B., SF, T., RS, M., JR, L., & D, L. (2026). Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.03.05.26347086

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