Research ExplorerScientific StaffJasmin Lisfeld Publications

Dr.med. ID: 5526733

Jasmin Lisfeld

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Publications

  1. 2023

  2. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

    Harms, F. L., Weiss, D., Lisfeld, J., Alawi, M. & Kutsche, K., 07.2023, In: NEUROGENETICS. 24, 3, p. 171-180 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

    Hecher, L., Harms, F. L., Lisfeld, J., Alawi, M., Denecke, J. & Kutsche, K., 04.2023, In: NEUROGENETICS. 24, 2, p. 79-93 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

    Aerden, M., Denommé-Pichon, A-S., Bonneau, D., Bruel, A-L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Tran Mau-Them, F., Viora-Dupont, É., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P-Y., Julia, S., Philippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., van Haelst, M., Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F-G., Bramswig, N. C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Tørring, P. M., Renieri, A., Bruno, L. P., Õunap, K., Wojcik, M., Hsieh, T-C., Krawitz, P. & Van Esch, H., 04.2023, In: EUR J HUM GENET. 31, 4, p. 461-468 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. 2022

  6. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

    Holling, T., Lisfeld, J., Johannsen, J., Matschke, J., Song, F., Altmeppen, H. C. & Kutsche, K., 09.2022, In: HUM MUTAT. 43, 9, p. 1224-1233 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. 2021

  8. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases

    Fuchs, S., Lisfeld, J., Kankel, S., Person, L. & Liehr, T., 28.07.2021, In: HUM GENOME VAR. 8, 1, 32.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

    Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review