Christian Kubisch

graph of relations

Publications

  1. 2022
  2. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

    Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., 05.2022, In: EUR J HUM GENET. 30, 5, p. 611-618 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  3. Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype

    Demal, T. J., Scholz, T., Schüler, H., Olfe, J., Fröhlich, A., Speth, F., von Kodolitsch, Y., Mir, T. S., Reichenspurner, H., Kubisch, C., Hempel, M. & Rosenberger, G., 16.03.2022, In: SCI REP-UK. 12, 1, p. 4489

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  4. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

    Kreienkamp, H-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M. & Lessel, D., 02.2022, In: HUM GENET. 141, 2, p. 257-272 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  5. LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

    Keil, L., Berisha, F., Knappe, D., Kubisch, C., Shoukier, M., Kirchhof, P., Fabritz, L., Hellenbroich, Y., Woitschach, R. & Magnussen, C., 19.01.2022, In: GENES-BASEL. 13, 2, 169.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  6. A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

    Lessel, D., Rading, K., Campbell, S. E., Thiele, H., Altmüller, J., Gordon, L. B. & Kubisch, C., 01.2022, In: AM J MED GENET A. 188, 1, p. 216-223 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-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 journalSCORING: Journal articles Researchpeer-review

  9. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

    Schob, C., Hempel, M., Brozkova, D. S., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Meszarosova, A. U., Chae, J-H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S. & Denecke, J., 11.2021, In: ANN NEUROL. 90, 5, p. 738-750 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  10. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

    Kloth, K., Lozic, B., Tagoe, J., Hoffer, M. J. V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P. Y. B., Denecke, J., Bijlsma, E. K. & Lessel, D., 10.2021, In: NEUROGENETICS. 22, 4, p. 263-269 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  11. Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

    Volk, A. E., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J., von Ameln, S., Lorenz, B., Neugebauer, A., Karsak, M. & Kubisch, C., 08.2021, In: HUM GENET. 140, 8, p. 1157-1168 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  12. Identification of 22 susceptibility loci associated with testicular germ cell tumors

    Pluta, J., Pyle, L. C., Nead, K. T., Wilf, R., Li, M., Mitra, N., Weathers, B., D'Andrea, K., Almstrup, K., Anson-Cartwright, L., Benitez, J., Brown, C. D., Chanock, S., Chen, C., Cortessis, V. K., Ferlin, A., Foresta, C., Gamulin, M., Gietema, J. A., Grasso, C., Greene, M. H., Grotmol, T., Hamilton, R. J., Haugen, T. B., Hauser, R., Hildebrandt, M. A. T., Johnson, M. E., Karlsson, R., Kiemeney, L. A., Lessel, D., Lothe, R. A., Loud, J. T., Loveday, C., Martin-Gimeno, P., Meijer, C., Nsengimana, J., Quinn, D. I., Rafnar, T., Ramdas, S., Richiardi, L., Skotheim, R. I., Stefansson, K., Turnbull, C., Vaughn, D. J., Wiklund, F., Wu, X., Yang, D., Zheng, T., Wells, A. D., Grant, S. F. A., Rajpert-De Meyts, E., Schwartz, S. M., Bishop, D. T., McGlynn, K. A., Kanetsky, P. A., Nathanson, K. L. & Testicular Cancer Consortium, 23.07.2021, In: NAT COMMUN. 12, 1, p. 4487

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  13. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J., Escobar, L. F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H-J. & Lessel, D., 21.05.2021, In: GENOME MED. 13, 1, p. 90

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  14. Xenotropic and polytropic retrovirus receptor 1 regulates procoagulant platelet polyphosphate

    Mailer, R. K., Allende, M., Heestermans, M., Schweizer, M., Deppermann, C., Frye, M., Pula, G., Odeberg, J., Gelderblom, M., Rose-John, S., Sickmann, A., Blankenberg, S., Huber, T. B., Kubisch, C., Maas, C., Gambaryan, S., Firsov, D., Stavrou, E. X., Butler, L. M. & Renné, T., 11.03.2021, In: BLOOD. 137, 10, p. 1392-1405 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  15. Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

    Jandl, N. M., Schmidt, T., Rolvien, T., Stürznickel, J., Chrysostomou, K., von Vopelius, E., Volk, A. E., Schinke, T., Kubisch, C., Amling, M. & Barvencik, F., 03.2021, In: CALCIFIED TISSUE INT. 108, 3, p. 288-301 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  16. 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 journalSCORING: Journal articles Researchpeer-review

  17. 2020
  18. Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16.11.2020, In: NAT COMMUN. 11, 1, p. 5797

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  19. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    Elouej, S., Harhouri, K., Le Mao, M., Baujat, G., Nampoothiri, S., Kayserili, H., Menabawy, N. A., Selim, L., Paneque, A. L., Kubisch, C., Lessel, D., Rubinsztajn, R., Charar, C., Bartoli, C., Airault, C., Deleuze, J-F., Rötig, A., Bauer, P., Pereira, C., Loh, A., Escande-Beillard, N., Muchir, A., Martino, L., Gruenbaum, Y., Lee, S-H., Manivet, P., Lenaers, G., Reversade, B., Lévy, N. & De Sandre-Giovannoli, A., 11.09.2020, In: NAT COMMUN. 11, 1, p. 4589

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  20. 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 journalSCORING: Journal articles Researchpeer-review

  21. Rationale and Design of the Hamburg City Health Study

    Jagodzinski, A. D., Johansen, C., Koch-Gromus, U., Aarabi, G., Adam, G., Anders, S., Augustin, M., der Kellen, R. B., Beikler, T., Behrendt, C-A., Betz, C. S., Bokemeyer, C., Borof, K., Briken, P., Busch, C-J., Büchel, C., Brassen, S., Debus, E. S., Eggers, L., Fiehler, J., Gallinat, J., Gellißen, S., Gerloff, C., Girdauskas, E., Gosau, M., Graefen, M., Härter, M., Harth, V., Heidemann, C., Heydecke, G., Huber, T., Hussein, Y., Kampf, M. O., von dem Knesebeck, O., Konnopka, A., König, H-H., Kromer, R., Kubisch, C., Kühn, S., Loges, S., Löwe, B., Lund, G., Meyer, C., Nagel, L., Nienhaus, A., Pantel, K., Petersen, E., Püschel, K., Reichenspurner, H., Sauter, G., Scherer, M., Scherschel, K., Schiffner, U., Schnabel, R. B., Schulz, H., Smeets, R., Sokalskis, V., Spitzer, M., Terschüren, C., Thederan, I., Thoma, T., Thomalla, G., Waschki, B., Wegscheider, K., Wenzel, J-P., Wiese, S., Zyriax, B-C., Zeller, T. & Blankenberg, S., 02.2020, In: EUR J EPIDEMIOL. 35, 2, p. 169-181 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  22. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2

    Karsak, M., Glebov, K., Scheffold, M., Bajaj, T., Kawalia, A., Karaca, I., Rading, S., Kornhuber, J., Peters, O., Diez-Fairen, M., Frölich, L., Hüll, M., Wiltfang, J., Scherer, M., Riedel-Heller, S., Schneider, A., Heneka, M. T., Fliessbach, K., Sharaf, A., Thiele, H., Lennarz, M., Jessen, F., Maier, W., Kubisch, C., Ignatova, Z., Nürnberg, P., Pastor, P., Walter, J. & Ramirez, A., 01.2020, In: HUM MUTAT. 41, 1, p. 169-181 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  23. 2019
  24. Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

    Brenner, D., Rosenbohm, A., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.12.2019, In: BRAIN. 142, 12, p. e67

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  25. Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson's disease

    Benkert, J., Hess, S., Roy, S., Beccano-Kelly, D., Wiederspohn, N., Duda, J., Simons, C., Patil, K., Gaifullina, A., Mannal, N., Dragicevic, E., Spaich, D., Müller, S., Nemeth, J., Hollmann, H., Deuter, N., Mousba, Y., Kubisch, C., Poetschke, C., Striessnig, J., Pongs, O., Schneider, T., Wade-Martins, R., Patel, S., Parlato, R., Frank, T., Kloppenburg, P. & Liss, B., 08.11.2019, In: NAT COMMUN. 10, 1, p. 5094

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  26. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

    Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  27. Hereditary Syndromes with Signs of Premature Aging

    Lessel, D. & Kubisch, C., 22.07.2019, In: DTSCH ARZTEBL INT. 116, 29-30, p. 489-496 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  28. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

    Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horváth, J., Niederacher, D., Arnold, N., Kaulfuß, S., Ernst, C., Paul, V. G., Honisch, E., Klaschik, K., Volk, A. E., Kubisch, C., Rapp, S., Lichey, N., Altmüller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nürnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R. K., Hahnen, E. & Hauke, J., 29.04.2019, In: BREAST CANCER RES. 21, 1, p. 55

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  29. The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

    Marbach, F., Rustad, C. F., Riess, A., Đukić, D., Hsieh, T-C., Jobani, I., Prescott, T., Bevot, A., Erger, F., Houge, G., Redfors, M., Altmueller, J., Stokowy, T., Gilissen, C., Kubisch, C., Scarano, E., Mazzanti, L., Fiskerstrand, T., Krawitz, P. M., Lessel, D. & Netzer, C., 04.04.2019, In: AM J HUM GENET. 104, 4, p. 749-757 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  30. Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors

    AlDubayan, S. H., Pyle, L. C., Gamulin, M., Kulis, T., Moore, N. D., Taylor-Weiner, A., Hamid, A. A., Reardon, B., Wubbenhorst, B., Godse, R., Vaughn, D. J., Jacobs, L. A., Meien, S., Grgic, M., Kastelan, Z., Markt, S. C., Damrauer, S. M., Rader, D. J., Kember, R. L., Loud, J. T., Kanetsky, P. A., Greene, M. H., Sweeney, C. J., Kubisch, C., Nathanson, K. L., Van Allen, E. M., Stewart, D. R., Lessel, D. & Regeneron Genetics Center (RGC) Research Team, 01.04.2019, In: JAMA ONCOL. 5, 4, p. 514-522 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  31. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  32. 2018
  33. Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

    Xu, L., Jensen, H., Johnston, J. J., Di Maria, E., Kloth, K., Cristea, I., Sapp, J. C., Darling, T. N., Huryn, L. A., Tranebjærg, L., Cinotti, E., Kubisch, C., Rødahl, E., Bruland, O., Biesecker, L. G., Houge, G. & Bredrup, C., 06.12.2018, In: AM J HUM GENET. 103, 6, p. 976-983 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  34. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

    Lessel, D., Ozel, A. B., Campbell, S. E., Saadi, A., Arlt, M. F., McSweeney, K. M., Plaiasu, V., Szakszon, K., Szőllős, A., Rusu, C., Rojas, A. J., Lopez-Valdez, J., Thiele, H., Nürnberg, P., Nickerson, D. A., Bamshad, M. J., Li, J. Z., Kubisch, C., Glover, T. W. & Gordon, L. B., 12.2018, In: HUM GENET. 137, 11-12, p. 921-939 19 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  35. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

    Sargolzaeiaval, F., Zhang, J., Schleit, J., Lessel, D., Kubisch, C., Precioso, D. R., Sillence, D., Hisama, F. M., Dorschner, M., Martin, G. M. & Oshima, J., 11.2018, In: MOL GENET GENOM MED. 6, 6, p. 1148-1156 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  36. Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 2 with Recommendations for the Therapy of Primary, Recurrent and Advanced Breast Cancer

    Wöckel, A., Festl, J., Stüber, T., Brust, K., Krockenberger, M., Heuschmann, P. U., Jírů-Hillmann, S., Albert, U-S., Budach, W., Follmann, M., Janni, W., Kopp, I., Kreienberg, R., Kühn, T., Langer, T., Nothacker, M., Scharl, A., Schreer, I., Link, H., Engel, J., Fehm, T., Weis, J., Welt, A., Steckelberg, A., Feyer, P., König, K., Hahne, A., Baumgartner, T., Kreipe, H. H., Knoefel, W. T., Denkinger, M., Brucker, S., Lüftner, D., Kubisch, C., Gerlach, C., Lebeau, A., Siedentopf, F., Petersen, C., Bartsch, H. H., Schulz-Wendtland, R., Hahn, M., Hanf, V., Müller-Schimpfle, M., Henscher, U., Roncarati, R., Katalinic, A., Heitmann, C., Honegger, C., Paradies, K., Bjelic-Radisic, V., Degenhardt, F., Wenz, F., Rick, O., Hölzel, D., Zaiss, M., Kemper, G., Budach, V., Denkert, C., Gerber, B., Tesch, H., Hirsmüller, S., Sinn, H-P., Dunst, J., Münstedt, K., Bick, U., Fallenberg, E., Tholen, R., Hung, R., Baumann, F., Beckmann, M. W., Blohmer, J., Fasching, P., Lux, M. P., Harbeck, N., Hadji, P., Hauner, H., Heywang-Köbrunner, S., Huober, J., Hübner, J., Jackisch, C., Loibl, S., Lück, H-J., von Minckwitz, G., Möbus, V., Müller, V., Nöthlings, U., Schmidt, M., Schmutzler, R., Schneeweiss, A., Schütz, F., Stickeler, E., Thomssen, C., Untch, M., Wesselmann, S., Bücker, A., Buck, A. & Stangl, S., 11.2018, In: GEBURTSH FRAUENHEILK. 78, 11, p. 1056-1088 33 p.

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  37. Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Breast Cancer

    Wöckel, A., Festl, J., Stüber, T., Brust, K., Stangl, S., Heuschmann, P. U., Albert, U-S., Budach, W., Follmann, M., Janni, W., Kopp, I., Kreienberg, R., Kühn, T., Langer, T., Nothacker, M., Scharl, A., Schreer, I., Link, H., Engel, J., Fehm, T., Weis, J., Welt, A., Steckelberg, A., Feyer, P., König, K., Hahne, A., Kreipe, H. H., Knoefel, W. T., Denkinger, M., Brucker, S., Lüftner, D., Kubisch, C., Gerlach, C., Lebeau, A., Siedentopf, F., Petersen, C., Bartsch, H. H., Schulz-Wendtland, R., Hahn, M., Hanf, V., Müller-Schimpfle, M., Henscher, U., Roncarati, R., Katalinic, A., Heitmann, C., Honegger, C., Paradies, K., Bjelic-Radisic, V., Degenhardt, F., Wenz, F., Rick, O., Hölzel, D., Zaiss, M., Kemper, G., Budach, V., Denkert, C., Gerber, B., Tesch, H., Hirsmüller, S., Sinn, H-P., Dunst, J., Münstedt, K., Bick, U., Fallenberg, E., Tholen, R., Hung, R., Baumann, F., Beckmann, M. W., Blohmer, J., Fasching, P. A., Lux, M. P., Harbeck, N., Hadji, P., Hauner, H., Heywang-Köbrunner, S., Huober, J., Hübner, J., Jackisch, C., Loibl, S., Lück, H-J., von Minckwitz, G., Möbus, V., Müller, V., Nöthlings, U., Schmidt, M., Schmutzler, R., Schneeweiss, A., Schütz, F., Stickeler, E., Thomssen, C., Untch, M., Wesselmann, S., Bücker, A. & Krockenberger, M., 10.2018, In: GEBURTSH FRAUENHEILK. 78, 10, p. 927-948 22 p.

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  38. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    Lessel, D., Gehbauer, C., Bramswig, N. C., Schluth-Bolard, C., Venkataramanappa, S., van Gassen, K. L. I., Hempel, M., Haack, T. B., Baresic, A., Genetti, C. A., Funari, M. F. A., Lessel, I., Kuhlmann, L., Simon, R., Liu, P., Denecke, J., Kuechler, A., de Kruijff, I., Shoukier, M., Lek, M., Mullen, T., Lüdecke, H-J., Lerario, A. M., Kobbe, R., Krieger, T., Demeer, B., Lebrun, M., Keren, B., Nava, C., Buratti, J., Afenjar, A., Shinawi, M., Guillen Sacoto, M. J., Gauthier, J., Hamdan, F. F., Laberge, A-M., Campeau, P. M., Louie, R. J., Cathey, S. S., Prinz, I., Jorge, A. A. L., Terhal, P. A., Lenhard, B., Wieczorek, D., Strom, T. M., Agrawal, P. B., Britsch, S., Tolosa, E. & Kubisch, C., 01.08.2018, In: BRAIN. 141, 8, p. 2299-2311 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  39. Comprehensive analysis of the mutation spectrum in 301 German ALS families

    Müller, K., Brenner, D., Weydt, P., Meyer, T., Grehl, T., Petri, S., Grosskreutz, J., Schuster, J., Volk, A. E., Borck, G., Kubisch, C., Klopstock, T., Zeller, D., Jablonka, S., Sendtner, M., Klebe, S., Knehr, A., Günther, K., Weis, J., Claeys, K. G., Schrank, B., Sperfeld, A-D., Hübers, A., Otto, M., Dorst, J., Meitinger, T., Strom, T. M., Andersen, P. M., Ludolph, A. C., Weishaupt, J. H. & German ALS network MND-NET, 08.2018, In: J NEUROL NEUROSUR PS. 89, 8, p. 817-827 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  40. Molecular genetic overlap between migraine and major depressive disorder

    Yang, Y., Zhao, H., Boomsma, D. I., Ligthart, L., Belin, A. C., Smith, G. D., Esko, T., Freilinger, T. M., Hansen, T. F., Ikram, M. A., Kallela, M., Kubisch, C., Paraskevi, C., Strachan, D. P., Wessman, M., van den Maagdenberg, A. M. J. M., Terwindt, G. M., Nyholt, D. R. & International Headache Genetics Consortium, 08.2018, In: EUR J HUM GENET. 26, 8, p. 1202-1216 15 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  41. Analysis of shared heritability in common disorders of the brain

    Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., Malik, R., Patsopoulos, N. A., Ripke, S., Wei, Z., Yu, D., Lee, P. H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., Berr, C., Letenneur, L., Hannequin, D., Amouyel, P., Boland, A., Deleuze, J-F., Duron, E., Vardarajan, B. N., Reitz, C., Goate, A. M., Huentelman, M. J., Kamboh, M. I., Larson, E. B., Rogaeva, E., St George-Hyslop, P., Hakonarson, H., Kukull, W. A., Farrer, L. A., Barnes, L. L., Beach, T. G., Demirci, F. Y., Head, E., Hulette, C. M., Jicha, G. A., Kauwe, J. S. K., Kaye, J. A., Leverenz, J. B., Levey, A. I., Lieberman, A. P., Pankratz, V. S., Poon, W. W., Quinn, J. F., Saykin, A. J., Schneider, L. S., Smith, A. G., Sonnen, J. A., Stern, R. A., Van Deerlin, V. M., Van Eldik, L. J., Harold, D., Russo, G., Rubinsztein, D. C., Bayer, A., Tsolaki, M., Proitsi, P., Fox, N. C., Hampel, H., Owen, M. J., Mead, S., Passmore, P., Morgan, K., Nöthen, M. M., Rossor, M., Lupton, M. K., Hoffmann, P., Kornhuber, J., Lawlor, B., McQuillin, A., Al-Chalabi, A., Bis, J. C., Ruiz, A., Boada, M., Seshadri, S., Beiser, A., Rice, K., van der Lee, S. J., De Jager, P. L., Geschwind, D. H., Riemenschneider, M., Riedel-Heller, S., Rotter, J. I., Ransmayr, G., Hyman, B. T., Cruchaga, C., Alegret, M., Winsvold, B., Palta, P., Farh, K-H., Cuenca-Leon, E., Furlotte, N., Kurth, T., Ligthart, L., Terwindt, G. M., Freilinger, T., Ran, C., Gordon, S. D., Borck, G., Adams, H. H. H., Lehtimäki, T., Wedenoja, J., Buring, J. E., Schürks, M., Hrafnsdottir, M., Hottenga, J-J., Penninx, B., Artto, V., Kaunisto, M., Vepsäläinen, S., Martin, N. G., Montgomery, G. W., Kurki, M. I., Hämäläinen, E., Huang, H., Huang, J., Sandor, C., Webber, C., Muller-Myhsok, B., Schreiber, S., Salomaa, V., Loehrer, E., Göbel, H., Macaya, A., Pozo-Rosich, P., Hansen, T., Werge, T., Kaprio, J., Metspalu, A., Kubisch, C., Ferrari, M. D., Belin, A. C., van den Maagdenberg, A. M. J. M., Zwart, J-A., Boomsma, D., Eriksson, N., Olesen, J., Chasman, D. I., Nyholt, D. R., Avbersek, A., Baum, L., Berkovic, S., Bradfield, J., Buono, R., Catarino, C. B., Cossette, P., De Jonghe, P., Depondt, C., Dlugos, D., Ferraro, T. N., French, J., Hjalgrim, H., Jamnadas-Khoda, J., Kälviäinen, R., Kunz, W. S., Lerche, H., Leu, C., Lindhout, D., Lo, W., Lowenstein, D., McCormack, M., Møller, R. S., Molloy, A., Ng, P-W., Oliver, K., Privitera, M., Radtke, R., Ruppert, A-K., Sander, T., Schachter, S., Schankin, C., Scheffer, I., Schoch, S., Sisodiya, S. M., Smith, P., Sperling, M., Striano, P., Surges, R., Thomas, G. N., Visscher, F., Whelan, C. D., Zara, F., Heinzen, E. L., Marson, A., Becker, F., Stroink, H., Zimprich, F., Gasser, T., Gibbs, R., Heutink, P., Martinez, M., Morris, H. R., Sharma, M., Ryten, M., Mok, K. Y., Pulit, S., Bevan, S., Holliday, E., Attia, J., Battey, T., Boncoraglio, G., Thijs, V., Chen, W-M., Mitchell, B., Rothwell, P., Sharma, P., Sudlow, C., Vicente, A., Markus, H., Kourkoulis, C., Pera, J., Raffeld, M., Silliman, S., Boraska Perica, V., Thornton, L. M., Huckins, L. M., William Rayner, N., Lewis, C. M., Gratacos, M., Rybakowski, F., Keski-Rahkonen, A., Raevuori, A., Hudson, J. I., Reichborn-Kjennerud, T., Monteleone, P., Karwautz, A., Mannik, K., Baker, J. H., O'Toole, J. K., Trace, S. E., Davis, O. S. P., Helder, S. G., Ehrlich, S., Herpertz-Dahlmann, B., Danner, U. N., van Elburg, A. A., Clementi, M., Forzan, M., Docampo, E., Lissowska, J., Hauser, J., Tortorella, A., Maj, M., Gonidakis, F., Tziouvas, K., Papezova, H., Yilmaz, Z., Wagner, G., Cohen-Woods, S., Herms, S., Julià, A., Rabionet, R., Dick, D. M., Ripatti, S., Andreassen, O. A., Espeseth, T., Lundervold, A. J., Steen, V. M., Pinto, D., Scherer, S. W., Aschauer, H., Schosser, A., Alfredsson, L., Padyukov, L., Halmi, K. A., Mitchell, J., Strober, M., Bergen, A. W., Kaye, W., Szatkiewicz, J. P., Cormand, B., Ramos-Quiroga, J. A., Sánchez-Mora, C., Ribasés, M., Casas, M., Hervas, A., Arranz, M. J., Haavik, J., Zayats, T., Johansson, S., Williams, N., Dempfle, A., Rothenberger, A., Kuntsi, J., Oades, R. D., Banaschewski, T., Franke, B., Buitelaar, J. K., Arias Vasquez, A., Doyle, A. E., Reif, A., Lesch, K-P., Freitag, C., Rivero, O., Palmason, H., Romanos, M., Langley, K., Rietschel, M., Witt, S. H., Dalsgaard, S., Børglum, A. D., Waldman, I., Wilmot, B., Molly, N., Bau, C. H. D., Crosbie, J., Schachar, R., Loo, S. K., McGough, J. J., Grevet, E. H., Medland, S. E., Robinson, E., Weiss, L. A., Bacchelli, E., Bailey, A., Bal, V., Battaglia, A., Betancur, C., Bolton, P., Cantor, R., Celestino-Soper, P., Dawson, G., De Rubeis, S., Duque, F., Green, A., Klauck, S. M., Leboyer, M., Levitt, P., Maestrini, E., Mane, S., De-Luca, D. M., Parr, J., Regan, R., Reichenberg, A., Sandin, S., Vorstman, J., Wassink, T., Wijsman, E., Cook, E., Santangelo, S., Delorme, R., Rogé, B., Magalhaes, T., Arking, D., Schulze, T. G., Thompson, R. C., Strohmaier, J., Matthews, K., Melle, I., Morris, D., Blackwood, D., McIntosh, A., Bergen, S. E., Schalling, M., Jamain, S., Maaser, A., Fischer, S. B., Reinbold, C. S., Fullerton, J. M., Guzman-Parra, J., Mayoral, F., Schofield, P. R., Cichon, S., Mühleisen, T. W., Degenhardt, F., Schumacher, J., Bauer, M., Mitchell, P. B., Gershon, E. S., Rice, J., Potash, J. B., Zandi, P. P., Craddock, N., Ferrier, I. N., Alda, M., Rouleau, G. A., Turecki, G., Ophoff, R., Pato, C., Anjorin, A., Stahl, E., Leber, M., Czerski, P. M., Cruceanu, C., Jones, I. R., Posthuma, D., Andlauer, T. F. M., Forstner, A. J., Streit, F., Baune, B. T., Air, T., Sinnamon, G., Wray, N. R., MacIntyre, D. J., Porteous, D., Homuth, G., Rivera, M., Grove, J., Middeldorp, C. M., Hickie, I., Pergadia, M., Mehta, D., Smit, J. H., Jansen, R., de Geus, E., Dunn, E., Li, Q. S., Nauck, M., Schoevers, R. A., Beekman, A. T., Knowles, J. A., Viktorin, A., Arnold, P., Barr, C. L., Bedoya-Berrio, G., Bienvenu, O. J., Brentani, H., Burton, C., Camarena, B., Cappi, C., Cath, D., Cavallini, M., Cusi, D., Darrow, S., Denys, D., Derks, E. M., Dietrich, A., Fernandez, T., Figee, M., Freimer, N., Gerber, G., Grados, M., Greenberg, E., Hanna, G. L., Hartmann, A., Hirschtritt, M. E., Hoekstra, P. J., Huang, A., Huyser, C., Illmann, C., Jenike, M., Kuperman, S., Leventhal, B., Lochner, C., Lyon, G. J., Macciardi, F., Madruga-Garrido, M., Malaty, I. A., Maras, A., McGrath, L., Miguel, E. C., Mir, P., Nestadt, G., Nicolini, H., Okun, M. S., Pakstis, A., Paschou, P., Piacentini, J., Pittenger, C., Plessen, K., Ramensky, V., Ramos, E. M., Reus, V., Richter, M. A., Riddle, M. A., Robertson, M. M., Roessner, V., Rosário, M., Samuels, J. F., Sandor, P., Stein, D. J., Tsetsos, F., Van Nieuwerburgh, F., Weatherall, S., Wendland, J. R., Wolanczyk, T., Worbe, Y., Zai, G., Goes, F. S., McLaughlin, N., Nestadt, P. S., Grabe, H-J., Depienne, C., Konkashbaev, A., Lanzagorta, N., Valencia-Duarte, A., Bramon, E., Buccola, N., Cahn, W., Cairns, M., Chong, S. A., Cohen, D., Crespo-Facorro, B., Crowley, J., Davidson, M., DeLisi, L., Dinan, T., Donohoe, G., Drapeau, E., Duan, J., Haan, L., Hougaard, D., Karachanak-Yankova, S., Khrunin, A., Klovins, J., Kučinskas, V., Lee Chee Keong, J., Limborska, S., Loughland, C., Lönnqvist, J., Maher, B., Mattheisen, M., McDonald, C., Murphy, K. C., Nenadic, I., van Os, J., Pantelis, C., Pato, M., Petryshen, T., Quested, D., Roussos, P., Sanders, A. R., Schall, U., Schwab, S. G., Sim, K., So, H-C., Stögmann, E., Subramaniam, M., Toncheva, D., Waddington, J., Walters, J., Weiser, M., Cheng, W., Cloninger, R., Curtis, D., Gejman, P. V., Henskens, F., Mattingsdal, M., Oh, S-Y., Scott, R., Webb, B., Breen, G., Churchhouse, C., Bulik, C. M., Daly, M., Dichgans, M., Faraone, S. V., Guerreiro, R., Holmans, P., Kendler, K. S., Koeleman, B., Mathews, C. A., Price, A., Scharf, J., Sklar, P., Williams, J., Wood, N. W., Cotsapas, C., Palotie, A., Smoller, J. W., Sullivan, P., Rosand, J., Corvin, A., Neale, B. M., Schott, J. M., Anney, R., Elia, J., Grigoroiu-Serbanescu, M., Edenberg, H. J., Murray, R. & Brainstorm Consortium, 22.06.2018, In: SCIENCE. 360, 6395, p. 1313-+

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  42. The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

    Rosenbohm, A., Hirsch, S., Volk, A. E., Grehl, T., Grosskreutz, J., Hanisch, F., Herrmann, A., Kollewe, K., Kress, W., Meyer, T., Petri, S., Prudlo, J., Wessig, C., Müller, H-P., Dreyhaupt, J., Weishaupt, J., Kubisch, C., Kassubek, J., Weydt, P. & Ludolph, A. C., 05.2018, In: J NEUROL. 265, 5, p. 1026-1036 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  43. Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

    Hauke, J., Horvath, J., Groß, E., Gehrig, A., Honisch, E., Hackmann, K., Schmidt, G., Arnold, N., Faust, U., Sutter, C., Hentschel, J., Wang-Gohrke, S., Smogavec, M., Weber, B. H. F., Weber-Lassalle, N., Weber-Lassalle, K., Borde, J., Ernst, C., Altmüller, J., Volk, A. E., Thiele, H., Hübbel, V., Nürnberg, P., Keupp, K., Versmold, B., Pohl, E., Kubisch, C., Grill, S., Paul, V., Herold, N., Lichey, N., Rhiem, K., Ditsch, N., Ruckert, C., Wappenschmidt, B., Auber, B., Rump, A., Niederacher, D., Haaf, T., Ramser, J., Dworniczak, B., Engel, C., Meindl, A., Schmutzler, R. K. & Hahnen, E., 04.2018, In: CANCER MED-US. 7, 4, p. 1349-1358 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  44. Hot-spot KIF5A mutations cause familial ALS

    Brenner, D., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Strom, T. M., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.03.2018, In: BRAIN. 141, 3, p. 688-697 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  45. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

    Kakar, N., Horn, D., Decker, E., Sowada, N., Kubisch, C., Ahmad, J., Borck, G. & Bergmann, C., 02.2018, In: AM J MED GENET A. 176, 2, p. 438-442 5 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  46. BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

    Weber-Lassalle, N., Hauke, J., Ramser, J., Richters, L., Groß, E., Blümcke, B., Gehrig, A., Kahlert, A-K., Müller, C. R., Hackmann, K., Honisch, E., Weber-Lassalle, K., Niederacher, D., Borde, J., Thiele, H., Ernst, C., Altmüller, J., Neidhardt, G., Nürnberg, P., Klaschik, K., Schroeder, C., Platzer, K., Volk, A. E., Wang-Gohrke, S., Just, W., Auber, B., Kubisch, C., Schmidt, G., Horvath, J., Wappenschmidt, B., Engel, C., Arnold, N., Dworniczak, B., Rhiem, K., Meindl, A., Schmutzler, R. K. & Hahnen, E., 24.01.2018, In: BREAST CANCER RES. 20, 1, p. 7

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  47. Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

    Volk, A. E., Weishaupt, J. H., Andersen, P. M., Ludolph, A. C. & Kubisch, C., 2018, In: MED GENET-BERLIN. 30, 2, p. 252-258 7 p.

    Research output: SCORING: Contribution to journalSCORING: Review articlesResearch

  48. 2017
  49. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    Lessel, D., Schob, C., Küry, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., DDD Study, Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R. & Kreienkamp, H-J., 02.11.2017, In: AM J HUM GENET. 101, 5, p. 716-724 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  50. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

    Said, E., Chong, J. X., Hempel, M., Denecke, J., Soler, P., Strom, T., Nickerson, D. A., Kubisch, C., Bamshad, M. J., Lessel, D. & University of Washington Center for Mendelian Genomics, 11.2017, In: AM J MED GENET A. 173, 11, p. 3098-3103

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  51. The role of de novo mutations in the development of amyotrophic lateral sclerosis

    van Doormaal, P. T., Ticozzi, N., Weishaupt, J. H., Kenna, K., Diekstra, F. P., Verde, F., Andersen, P. M., Dekker, A. M., Tiloca, C., Marroquin, N., Overste, D. J., Pensato, V., Nürnberg, P., Pulit, S. L., Schellevis, R. D., Calini, D., Altmüller, J., Francioli, L. C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A. C., van den Berg, L. H., Kubisch, C., Landers, J. E., Veldink, J. H., Silani, V. & Volk, A. E., 11.2017, In: HUM MUTAT. 38, 11, p. 1534-1541

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  52. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

    Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nürnberg, G., Thoenes, M., Becker, J., Altmüller, J., Volk, A. E., Kubisch, C. & Heller, R., 15.10.2017, In: HUM MOL GENET. 26, 20, p. 4055-4066 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  53. Dysfunction of the MDM2/p53 axis is linked to premature aging

    Lessel, D., Wu, D., Trujillo, C., Ramezani, T., Lessel, I., Alwasiyah, M. K., Saha, B., Hisama, F. M., Rading, K., Goebel, I., Schütz, P., Speit, G., Högel, J., Thiele, H., Nürnberg, G., Nürnberg, P., Hammerschmidt, M., Zhu, Y., Tong, D. R., Katz, C., Martin, G. M., Oshima, J., Prives, C. & Kubisch, C., 02.10.2017, In: J CLIN INVEST. 127, 10, p. 3598-3608

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  54. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

    Rolvien, T., Butscheidt, S., Jeschke, A., Neu, A., Denecke, J., Kubisch, C., Meisler, M. H., Püschel, K., Barvencik, F., Yorgan, T., Oheim, R., Schinke, T. & Amling, M., 10.2017, In: BONE. 103, p. 136-143

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  55. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

    Volk, A. E. & Kubisch, C., 10.2017, In: CURR OPIN NEUROL. 30, 5, p. 523-528

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

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