Research ExplorerScientific StaffTess Holling Publications

Tess Holling

graph of relations
Affiliations
1 - 10 out of 10Page size: 50

Publications

  1. 2024

  2. Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology

    Aagaard Nolting, L., Holling, T., Nishimura, G., Ek, J., Bak, M., Ljungberg, M., Kutsche, K. & Hove, H., 09.2024, In: CLIN GENET. 106, 3, p. 360-366 7 p.

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

  3. 2023

  4. TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

    Holling, T., Brylka, L. J., Scholz, T., Bierhals, T., Herget, T., Meinecke, P., Schinke, T., Oheim, R. & Kutsche, K., 09.2023, In: J BONE MINER RES. 38, 9, p. 1334-1349 16 p.

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

  5. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

    Abdelrazek, I. M., Holling, T., Harms, F. L., Alawi, M., Omar, T., Abdalla, E. & Kutsche, K., 03.2023, In: EUR J MED GENET. 66, 3, p. 104715

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  6. 2022

  7. 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

  8. Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

    Dahimene, S., von Elsner, L., Holling, T., Mattas, L. S., Pickard, J., Lessel, D., Pilch, K. S., Kadurin, I., Pratt, W. S., Zhulin, I. B., Dai, H., Hempel, M., Ruzhnikov, M. R. Z., Kutsche, K. & Dolphin, A. C., 27.08.2022, In: BRAIN. 145, 8, p. 2721-2729 9 p.

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

  9. Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel

    Bauer, C. K., Holling, T., Horn, D., Laço, M. N., Abdalla, E., Omar, O. M., Alawi, M. & Kutsche, K., 26.08.2022, In: INT J MOL SCI. 23, 17, 9690.

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

  10. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

    Holling, T., Bhavani, G. S., von Elsner, L., Shah, H., Kausthubham, N., Bhattacharyya, S. S., Shukla, A., Mortier, G. R., Schinke, T., Danyukova, T., Pohl, S., Kutsche, K. & Girisha, K. M., 05.2022, In: HUM MUTAT. 43, 5, p. 625-642 18 p.

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

  11. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

    Holling, T., Nampoothiri, S., Tarhan, B., Schneeberger, P. E., Vinayan, K. P., Yesodharan, D., Roy, A. G., Radhakrishnan, P., Alawi, M., Rhodes, L., Girisha, K. M., Kang, P. B. & Kutsche, K., 04.2022, In: EUR J HUM GENET. 30, 4, p. 439-449 11 p.

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

  12. 2021

  13. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

    Schneeberger, P. E., Nampoothiri, S., Holling, T., Yesodharan, D., Alawi, M., Knisely, A. S., Müller, T., Plecko, B., Janecke, A. R. & Kutsche, K., 26.05.2021, In: BRAIN. 2021, awab206

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

  14. 2018

  15. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

    Meyer Zum Büschenfelde, U., Brandenstein, L. I., von Elsner, L., Flato, K., Holling, T., Zenker, M., Rosenberger, G. & Kutsche, K., 05.2018, In: PLOS GENET. 14, 5, p. e1007370

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