Research ExplorerScientific StaffSigrid Fuchs Publications

Dr. ID: 38028

Sigrid Fuchs

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Publications

  1. 2021

  2. 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

  3. 2020

  4. Cell Banking of hiPSCs: A Practical Guide to Cryopreservation and Quality Control in Basic Research

    Shibamiya, A., Schulze, E., Krauß, D., Augustin, C., Reinsch, M., Schulze, M. L., Steuck, S., Mearini, G., Mannhardt, I., Schulze, T., Klampe, B., Werner, T., Saleem, U., Knaust, A., Laufer, S. D., Neuber, C., Lemme, M., Behrens, C. S., Loos, M., Weinberger, F., Fuchs, S., Eschenhagen, T., Hansen, A. & Ulmer, B. M., 12.2020, In: Curr Protoc Stem Cell Biol. 55, 1, p. e127

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

  5. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

    Schneeberger, P. E., Nayak, S. S., Fuchs, S., Kutsche, K. & Girisha, K. M., 11.2020, In: AM J MED GENET A. 182, 11, p. 2793-2796 4 p.

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

  6. The H-Y Antigen in Embryonic Stem Cells Causes Rejection in Syngeneic Female Recipients

    Hu, X., Kueppers, S. T., Kooreman, N. G., Gravina, A., Wang, D., Tediashvili, G., Schlickeiser, S., Frentsch, M., Nikolaou, C., Thiel, A., Marcus, S., Fuchs, S., Velden, J., Reichenspurner, H., Volk, H-D., Deuse, T. & Schrepfer, S., 15.09.2020, In: STEM CELLS DEV. 29, 18, p. 1179-1189 11 p.

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

  7. Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

    Harms, F. L., Parthasarathy, P., Zorndt, D., Alawi, M., Fuchs, S., Halliday, B. J., McKeown, C., Sampaio, H., Radhakrishnan, N., Radhakrishnan, S. K., Gorce, M., Navet, B., Ziegler, A., Sachdev, R., Robertson, S. P., Nampoothiri, S. & Kutsche, K., 09.2020, In: HUM MUTAT. 41, 9, p. 1645-1661 17 p.

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

  8. Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

    Sismani, C., Rapti, S-M., Iliopoulou, P., Spring, A., Neroutsou, R., Lagou, M., Robola, M., Tsitsopoulos, E., Kousoulidou, L., Alexandrou, A., Papaevripidou, I., Theodosiou, A., Syrrou, M., Fuchs, S., Hempel, M., Huhle, D., Liehr, T., Ziegler, M., Duesberg, M. & Velissariou, V., 09.2020, In: J HUM GENET. 65, 9, p. 783-795 13 p.

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

  9. Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

    Chateau, A., Kutsche, K., Fuchs, S., Harms, F., Kruse, C-H. & Mosam, A., 07.2020, In: INT J DERMATOL. 59, 7, p. 864-866 3 p.

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

  10. Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

    Lessel, I., Chen, M-J., Lüttgen, S., Arndt, F., Fuchs, S., Meien, S., Thiele, H., Jones, J. R., Shaw, B. R., Crossman, D. K., Nürnberg, P., Korf, B. R., Kubisch, C. & Lessel, D., 04.2020, In: HUM GENET. 139, 4, p. 483-498 16 p.

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

  11. 2018

  12. Immortalization of common marmoset monkey fibroblasts by piggyBac transposition of hTERT

    Petkov, S., Kahland, T., Shomroni, O., Lingner, T., Salinas, G., Fuchs, S., Debowski, K. & Behr, R., 2018, In: PLOS ONE. 13, 9, p. e0204580

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

  13. 2017

  14. Differentiation of cardiomyocytes and generation of human engineered heart tissue

    Breckwoldt, K., Letuffe-Brenière, D., Mannhardt, I., Schulze, T., Ulmer, B., Werner, T., Benzin, A., Klampe, B., Reinsch, M. C., Laufer, S., Shibamiya, A., Prondzynski, M., Mearini, G., Schade, D., Fuchs, S., Neuber, C., Krämer, E., Saleem, U., Schulze, M. L., Rodriguez, M. L., Eschenhagen, T. & Hansen, A., 06.2017, In: NAT PROTOC. 12, 6, p. 1177-1197 21 p.

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

  15. Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

    Podolska, A., Kobelt, A., Fuchs, S., Hackmann, K., Rump, A., Schröck, E., Kutsche, K. & Di Donato, N., 05.2017, In: AM J MED GENET A. 173, 5, p. 1334-1341

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

  16. 2016

  17. The transcriptomes of novel marmoset monkey embryonic stem cell lines reflect distinct genomic features

    Debowski, K., Drummer, C., Lentes, J., Cors, M., Dressel, R., Lingner, T., Salinas-Riester, G., Fuchs, S., Sasaki, E. & Behr, R., 07.07.2016, In: SCI REP-UK. 6, p. 29122

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

  18. 2015

  19. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    Hempel, M., Cremer, K., Ockeloen, C. W., Lichtenbelt, K. D., Herkert, J. C., Denecke, J., Haack, T. B., Zink, A. M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T. M., van Gassen, K. L. I., Kleefstra, T., Kubisch, C., Engels, H. & Lessel, D., 03.09.2015, In: AM J HUM GENET. 97, 3, p. 493-500 8 p.

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

  20. 2014

  21. Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    van Rahden, V. A., Rau, I., Fuchs, S., Kosyna, F. K., de Almeida, H. L., Fryssira, H., Isidor, B., Jauch, A., Joubert, M., Lachmeijer, A. M. A., Zweier, C., Moog, U. & Kutsche, K., 01.01.2014, In: ORPHANET J RARE DIS. 9, 1, p. 53

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

  22. 2013

  23. Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function

    Shoukier, M., Fuchs, S., Schwaibold, E., Lingen, M., Gärtner, J., Brockmann, K. & Zirn, B., 01.10.2013, In: NEUROPEDIATRICS. 44, 5, p. 268-71 4 p.

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

  24. Parthenogenetic stem cells for tissue-engineered heart repair

    Didié, M., Christalla, P., Rubart, M., Muppala, V., Döker, S., Unsöld, B., El-Armouche, A., Rau, T., Eschenhagen, T., Schwoerer, A. P., Ehmke, H., Schumacher, U., Fuchs, S., Lange, C., Becker, A., Tao, W., Scherschel, J. A., Soonpaa, M. H., Yang, T., Lin, Q., Zenke, M., Han, D-W., Schöler, H. R., Rudolph, C., Steinemann, D., Schlegelberger, B., Kattman, S., Witty, A., Keller, G., Field, L. J. & Zimmermann, W-H., 01.03.2013, In: J CLIN INVEST. 123, 3, p. 1285-98 14 p.

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

  25. 2011

  26. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

    Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G. & Kutsche, K., 2011, In: MOL SYNDROMOL. 2, 1, p. 27-34 1.

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

  27. 2007

  28. Absence of oncogenic transformation despite acquisition of cytogenetic aberrations in long-term cultured telomerase-immortalized human fetal hepatocytes.

    Haker, B., Fuchs, S., Dierlamm, J., Brümmendorf, T. & Wege, H., 2007, In: CANCER LETT. 256, 1, p. 120-127 1.

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

  29. 2003

  30. Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions

    Stefanova, M., Atanassov, D., Krastev, T., Fuchs, S. & Kutsche, K., 15.03.2003, In: AM J MED GENET A. 117A, 3, p. 289-94 6 p.

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