Research ExplorerScientific StaffChristian Kubisch Publications

Christian Kubisch

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Publications

  1. 2018

  2. 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 journal › SCORING: Journal article › Research › peer-review

  3. 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 journal › SCORING: Journal article › Research › peer-review

  4. 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 journal › SCORING: Journal article › Research › peer-review

  5. 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 journal › SCORING: Journal article › Research › peer-review

  6. 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 journal › SCORING: Review article › Research

  7. 2017

  8. 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 journal › SCORING: Journal article › Research › peer-review

  9. 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 journal › SCORING: Journal article › Research › peer-review

  10. 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 journal › SCORING: Journal article › Research › peer-review

  11. 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 journal › SCORING: Journal article › Research › peer-review

  12. 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 journal › SCORING: Journal article › Research › peer-review

  13. 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 journal › SCORING: Journal article › Research › peer-review

  14. 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 journal › SCORING: Journal article › Research › peer-review

  15. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

    Kloth, K., Denecke, J., Hempel, M., Johannsen, J., Strom, T. M., Kubisch, C. & Lessel, D., 09.2017, In: EUR J MED GENET. 60, 9, p. 494-498

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

  16. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

    Hempel, M., Casar Tena, T., Diehl, T., Burczyk, M. S., Strom, T. M., Kubisch, C., Philipp, M. & Lessel, D., 03.2017, In: HUM GENET. 136, 3, p. 339-346 8 p.

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

  17. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

    Yokote, K., Chanprasert, S., Lee, L., Eirich, K., Takemoto, M., Watanabe, A., Koizumi, N., Lessel, D., Mori, T., Hisama, F. M., Ladd, P. D., Angle, B., Baris, H., Cefle, K., Palanduz, S., Ozturk, S., Chateau, A., Deguchi, K., Easwar, T. K. M., Federico, A., Fox, A., Grebe, T. A., Hay, B., Nampoothiri, S., Seiter, K., Streeten, E., Piña-Aguilar, R. E., Poke, G., Poot, M., Posmyk, R., Martin, G. M., Kubisch, C., Schindler, D. & Oshima, J., 01.2017, In: HUM MUTAT. 38, 1, p. 7-15

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

  18. AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

    Lang-Roth, R., Fischer-Krall, E., Kornblum, C., Nürnberg, G., Meschede, D., Goebel, I., Nürnberg, P., Beutner, D., Kubisch, C., Walger, M. & Volk, A. E., 2017, In: AUDIOL NEURO-OTOL. 22, 1, p. 30-40 11 p.

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

  19. 2016

  20. Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

    Fan, C., Wolking, S., Lehmann-Horn, F., Hedrich, U. B., Freilinger, T., Lerche, H., Borck, G., Kubisch, C. & Jurkat-Rott, K., 10.2016, In: CEPHALALGIA. 36, 13, p. 1238-1247

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

  21. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, J. A., Sinnema, M., Stumpel, C. T. R. M., Draaisma, J. M., Nicolai, J., Yntema, H. G., Lindstrom, K., de Vries, B. B. A., Jewett, T., Santoro, S. L., Vogt, J., Bachman, K. K., Seeley, A. H., Krokosky, A., Turner, C., Rohena, L., Hempel, M., Kortüm, F., Lessel, D., Neu, A., Strom, T. M., Wieczorek, D., Bramswig, N., Laccone, F. A., Behunova, J., Rehder, H., Gordon, C. T., Rio, M., Romana, S., Tang, S., El-Khechen, D., Cho, M. T., McWalter, K., Douglas, G., Baskin, B., Begtrup, A., Funari, T., Schoch, K., Stegmann, A. P. A., Stevens, S. J. C., Zhang, D-E., Traver, D., Yao, X., MacArthur, D. G., Brunner, H. G., Mancini, G. M. S., Myers, R. M., Owen, L. B., Lim, S-T., Stachura, D. L., Vissers, L. E. L. M., Ahn, E-Y. E., University of Washington Center for Mendelian Genomics & Deciphering Developmental Disorders Study, 01.09.2016, In: AM J HUM GENET. 99, 3, p. 711-9 9 p.

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

  22. Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans

    Sowada, N., Stiller, B. & Kubisch, C., 05.08.2016, In: BIOCHEM BIOPH RES CO. 476, 4, p. 528-33 6 p.

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

  23. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

    Gormley, P., Anttila, V., Winsvold, B. S., Palta, P., Esko, T., Pers, T. H., Farh, K-H., Cuenca-Leon, E., Muona, M., Furlotte, N. A., Kurth, T., Ingason, A., McMahon, G., Ligthart, L., Terwindt, G. M., Kallela, M., Freilinger, T. M., Ran, C., Gordon, S. G., Stam, A. H., Steinberg, S., Borck, G., Koiranen, M., Quaye, L., Adams, H. H. H., Lehtimäki, T., Sarin, A-P., Wedenoja, J., Hinds, D. A., Buring, J. E., Schürks, M., Ridker, P. M., Hrafnsdottir, M. G., Stefansson, H., Ring, S. M., Hottenga, J-J., Penninx, B. W. J. H., Färkkilä, M., Artto, V., Kaunisto, M., Vepsäläinen, S., Malik, R., Heath, A. C., Madden, P. A. F., Martin, N. G., Montgomery, G. W., Kurki, M. I., Kals, M., Mägi, R., Pärn, K., Hämäläinen, E., Huang, H., Byrnes, A. E., Franke, L., Huang, J., Stergiakouli, E., Lee, P. H., Sandor, C., Webber, C., Cader, Z., Muller-Myhsok, B., Schreiber, S., Meitinger, T., Eriksson, J. G., Salomaa, V., Heikkilä, K., Loehrer, E., Uitterlinden, A. G., Hofman, A., van Duijn, C. M., Cherkas, L., Pedersen, L. M., Stubhaug, A., Nielsen, C. S., Männikkö, M., Mihailov, E., Milani, L., Göbel, H., Esserlind, A-L., Christensen, A. F., Hansen, T. F., Werge, T., Kaprio, J., Aromaa, A. J., Raitakari, O., Ikram, M. A., Spector, T., Järvelin, M-R., Metspalu, A., Kubisch, C., Strachan, D. P., Ferrari, M. D., Belin, A. C., Dichgans, M., Wessman, M., van den Maagdenberg, A. M. J. M., Zwart, J-A., Boomsma, D. I., Smith, G. D., Stefansson, K., Eriksson, N., Daly, M. J., Neale, B. M., Olesen, J., Chasman, D. I., Nyholt, D. R., Palotie, A. & International Headache Genetics Consortium, 08.2016, In: NAT GENET. 48, 8, p. 856-66 11 p.

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

  24. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Sadovnick, A. D., Traboulsee, A. L., Bernales, C. Q., Ross, J. P., Forwell, A. L., Yee, I. M., Guillot-Noel, L., Fontaine, B., Cournu-Rebeix, I., Alcina, A., Fedetz, M., Izquierdo, G., Matesanz, F., Hilven, K., Dubois, B., Goris, A., Astobiza, I., Alloza, I., Antigüedad, A., Vandenbroeck, K., Akkad, D. A., Aktas, O., Blaschke, P., Buttmann, M., Chan, A., Epplen, J. T., Gerdes, L-A., Kroner, A., Kubisch, C., Kümpfel, T., Lohse, P., Rieckmann, P., Zettl, U. K., Zipp, F., Bertram, L., Lill, C. M., Fernandez, O., Urbaneja, P., Leyva, L., Alvarez-Cermeño, J. C., Arroyo, R., Garagorri, A. M., García-Martínez, A., Villar, L. M., Urcelay, E., Malhotra, S., Montalban, X., Comabella, M., Berger, T., Fazekas, F., Reindl, M., Schmied, M. C., Zimprich, A. & Vilariño-Güell, C., 07.07.2016, In: G3-GENES GENOM GENET. 6, 7, p. 2073-9 7 p.

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

  25. Gene-based pleiotropy across migraine with aura and migraine without aura patient groups

    Zhao, H., Eising, E., de Vries, B., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Stefansson, H., Kallela, M., Malik, R., Stam, A. H., Ikram, M. A., Ligthart, L., Freilinger, T., Alexander, M., Müller-Myhsok, B., Schreiber, S., Meitinger, T., Aromas, A., Eriksson, J. G., Boomsma, D. I., van Duijn, C. M., Zwart, J-A., Quaye, L., Kubisch, C., Dichgans, M., Wessman, M., Stefansson, K., Chasman, D. I., Palotie, A., Martin, N. G., Montgomery, G. W., Ferrari, M. D., Terwindt, G. M., van den Maagdenberg, A. M. J. M., Nyholt, D. R. & International Headache Genetics Consortium, 01.06.2016, In: CEPHALALGIA. 36, 7, p. 648-57

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

  26. Involvement of astrocyte and oligodendrocyte gene sets in migraine

    Eising, E., de Leeuw, C., Min, J. L., Anttila, V., Verheijen, M. H., Terwindt, G. M., Dichgans, M., Freilinger, T., Kubisch, C., Ferrari, M. D., Smit, A. B., de Vries, B., Palotie, A., van den Maagdenberg, A. M., Posthuma, D. & International Headache Genetics Consortium, 01.06.2016, In: CEPHALALGIA. 36, 7, p. 640-7

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

  27. Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set

    de Vries, B., Anttila, V., Freilinger, T., Wessman, M., Kaunisto, M. A., Kallela, M., Artto, V., Vijfhuizen, L. S., Göbel, H., Dichgans, M., Kubisch, C., Ferrari, M. D., Palotie, A., Terwindt, G. M. & van den Maagdenberg, A. M., 01.06.2016, In: CEPHALALGIA. 36, 7, p. 604-14

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

  28. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

    Spielmann, M., Kakar, N., Tayebi, N., Leettola, C., Nürnberg, G., Sowada, N., Lupiáñez, D. G., Harabula, I., Flöttmann, R., Horn, D., Chan, W. L., Wittler, L., Yilmaz, R., Altmüller, J., Thiele, H., van Bokhoven, H., Schwartz, C. E., Nürnberg, P., Bowie, J. U., Ahmad, J., Kubisch, C., Mundlos, S. & Borck, G., 02.2016, In: GENOME RES. 26, 2, p. 183-91 9 p.

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

  29. Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

    Daud, S., Kakar, N., Goebel, I., Hashmi, A. S., Yaqub, T., Nürnberg, G., Nürnberg, P., Morris-Rosendahl, D. J., Wasim, M., Volk, A. E., Kubisch, C., Ahmad, J. & Borck, G., 11.01.2016, In: AMYOTROPH LAT SCL FR. 17, 3-4, p. 260-265 6 p.

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

  30. Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

    Steinacker, P., Feneberg, E., Weishaupt, J., Brettschneider, J., Tumani, H., Andersen, P. M., von Arnim, C. A. F., Böhm, S., Kassubek, J., Kubisch, C., Lulé, D., Müller, H-P., Muche, R., Pinkhardt, E., Oeckl, P., Rosenbohm, A., Anderl-Straub, S., Volk, A. E., Weydt, P., Ludolph, A. C. & Otto, M., 01.2016, In: J NEUROL NEUROSUR PS. 87, 1, p. 12-20 9 p.

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

  31. The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

    Lessel, D., Muhammad, T., Casar Tena, T., Moepps, B., Burkhalter, M. D., Hitz, M-P., Toka, O., Rentzsch, A., Schubert, S., Schalinski, A., Bauer, U. M. M., Kubisch, C., Ware, S. M. & Philipp, M., 2016, In: SCI REP-UK. 6, p. 33231

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

  32. 2015

  33. A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

    Yilmaz, R., Beleza-Meireles, A., Price, S., Oliveira, R., Kubisch, C., Clayton-Smith, J., Szakszon, K. & Borck, G., 12.2015, In: AM J MED GENET A. 167, 12, p. 3006-3010

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

  34. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis

    Hedergott, A., Volk, A. E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J., Nürnberg, P., Kubisch, C. & Neugebauer, A., 12.2015, In: GRAEF ARCH CLIN EXP. 253, 12, p. 2239-2246

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

  35. Genome-wide significant association with seven novel multiple sclerosis risk loci

    Lill, C. M., Luessi, F., Alcina, A., Sokolova, E. A., Ugidos, N., de la Hera, B., Guillot-Noël, L., Malhotra, S., Reinthaler, E., Schjeide, B-M. M., Mescheriakova, J. Y., Mashychev, A., Wohlers, I., Akkad, D. A., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Astobiza, I., Blaschke, P., Boyko, A. N., Buttmann, M., Chan, A., Dörner, T., Epplen, J. T., Favorova, O. O., Fedetz, M., Fernández, O., García-Martínez, A., Gerdes, L-A., Graetz, C., Hartung, H-P., Hoffjan, S., Izquierdo, G., Korobko, D. S., Kroner, A., Kubisch, C., Kümpfel, T., Leyva, L., Lohse, P., Malkova, N. A., Montalban, X., Popova, E. V., Rieckmann, P., Rozhdestvenskii, A. S., Schmied, C., Smagina, I. V., Tsareva, E. Y., Winkelmann, A., Zettl, U. K., Binder, H., Cournu-Rebeix, I., Hintzen, R., Zimprich, A., Comabella, M., Fontaine, B., Urcelay, E., Vandenbroeck, K., Filipenko, M., Matesanz, F., Zipp, F. & Bertram, L., 12.2015, In: J MED GENET. 52, 12, p. 848-855

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

  36. De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

    Hübers, A., Just, W., Rosenbohm, A., Müller, K., Marroquin, N., Goebel, I., Högel, J., Thiele, H., Altmüller, J., Nürnberg, P., Weishaupt, J. H., Kubisch, C., Ludolph, A. C. & Volk, A. E., 11.2015, In: NEUROBIOL AGING. 36, 11, p. Art. 3117.e1

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

  37. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

    Lessel, D., Hisama, F. M., Szakszon, K., Saha, B., Sanjuanelo, A. B., Salbert, B. A., Steele, P. D., Baldwin, J., Brown, W. T., Piussan, C., Plauchu, H., Szilvássy, J., Horkay, E., Högel, J., Martin, G. M., Herr, A. J., Oshima, J. & Kubisch, C., 11.2015, In: HUM MUTAT. 36, 11, p. 1070-9 10 p.

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

  38. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

    Kuechler, A., Altmüller, J., Nürnberg, P., Kotthoff, S., Kubisch, C. & Borck, G., 10.2015, In: MOL CELL PROBE. 29, 5, p. 330-334

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

  39. 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

  40. Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting

    Fischer, A. G., Endrass, T., Goebel, I., Reuter, M., Montag, C., Kubisch, C. & Ullsperger, M., 01.08.2015, In: NEUROIMAGE. 116, p. 59-67 9 p.

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

  41. Clinical utility gene card for Werner Syndrome - Update 2014

    Hisama, F. M., Kubisch, C., Martin, G. M. & Oshima, J., 06.2015, In: EUR J HUM GENET. 23, 6

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

  42. Serotonin reuptake inhibitors and serotonin transporter genotype modulate performance monitoring functions but not their electrophysiological correlates

    Fischer, A. G., Endrass, T., Reuter, M., Kubisch, C. & Ullsperger, M., 27.05.2015, In: J NEUROSCI. 35, 21, p. 8181-90 10 p.

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

  43. Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants

    Malik, R., Freilinger, T., Winsvold, B. S., Anttila, V., Vander Heiden, J., Traylor, M., de Vries, B., Holliday, E. G., Terwindt, G. M., Sturm, J., Bis, J. C., Hopewell, J. C., Ferrari, M. D., Rannikmae, K., Wessman, M., Kallela, M., Kubisch, C., Fornage, M., Meschia, J. F., Lehtimäki, T., Sudlow, C., Clarke, R., Chasman, D. I., Mitchell, B. D., Maguire, J., Kaprio, J., Farrall, M., Raitakari, O. T., Kurth, T., Ikram, M. A., Reiner, A. P., Longstreth, W. T., Rothwell, P. M., Strachan, D. P., Sharma, P., Seshadri, S., Quaye, L., Cherkas, L., Schürks, M., Rosand, J., Ligthart, L., Boncoraglio, G. B., Davey Smith, G., van Duijn, C. M., Stefansson, K., Worrall, B. B., Nyholt, D. R., Markus, H. S., van den Maagdenberg, A. M. J. M., Cotsapas, C., Zwart, J. A., Palotie, A., Dichgans, M. & International Headache Genetics Consortium, 26.05.2015, In: NEUROLOGY. 84, 21, p. 2132-45 14 p.

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

  44. Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies

    Nyholt, D. R., Anttila, V., Winsvold, B. S., Kurth, T., Stefansson, H., Kallela, M., Malik, R., Vries, B. D., Terwindt, G. M., Ikram, M. A., Stam, A. H., Ligthart, L., Freilinger, T., Alexander, M., Muller-Myhsok, B., Schreiber, S., Meitinger, T., Aromaa, A., Eriksson, J. G., Kaprio, J., Boomsma, D. I., Duijn, C. V., Raitakari, O., Järvelin, M-R., Zwart, J-A., Quaye, L., Strachan, D. P., Kubisch, C., Ferrari, M. D., van den Maagdenberg, A. M. J. M., Dichgans, M., Wessman, M., Smith, G. D., Stefansson, K., Chasman, D. I. & Palotie, A., 05.2015, In: CEPHALALGIA. 35, 6, p. 489-99 11 p.

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

  45. A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

    Reiter, R., Brosch, S., Goebel, I., Ludwig, K. U., Pickhard, A., Högel, J., Schlömer, G., Mangold, E., Kubisch, C. & Borck, G., 03.2015, In: AM J MED GENET A. 167, 3, p. 670-3 4 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  46. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

    Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmüller, J., Reymond, A., Nürnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. & Kubisch, C., 02.2015, In: GENOME RES. 25, 2, p. 155-66 12 p.

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

  47. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

    Kakar, N., Ahmad, J., Morris-Rosendahl, D. J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W. B. & Borck, G., 01.2015, In: HUM GENET. 134, 1, p. 45-51 7 p.

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

  48. 2014

  49. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

    Aulitzky, A., Friedrich, K., Gläser, D., Gastl, R., Kubisch, C., Ludolph, A. C. & Volk, A., 15.12.2014, In: J NEUROL SCI. 347, 1-2, p. 352-5 4 p.

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

  50. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

    Lessel, D., Vaz, B., Halder, S., Lockhart, P. J., Marinovic-Terzic, I., Lopez-Mosqueda, J., Philipp, M., Sim, J. C. H., Smith, K. R., Oehler, J., Cabrera, E., Freire, R., Pope, K., Nahid, A., Norris, F., Leventer, R. J., Delatycki, M. B., Barbi, G., von Ameln, S., Högel, J., Degoricija, M., Fertig, R., Burkhalter, M. D., Hofmann, K., Thiele, H., Altmüller, J., Nürnberg, G., Nürnberg, P., Bahlo, M., Martin, G. M., Aalfs, C. M., Oshima, J., Terzic, J., Amor, D. J., Dikic, I., Ramadan, K. & Kubisch, C., 01.11.2014, In: NAT GENET. 46, 11, p. 1239-44 6 p.

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

  51. Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier?

    Lessel, D., Saha, B., Hisama, F., Kaymakamzade, B., Nurlu, G., Gursoy-Özdemir, Y., Thiele, H., Nürnberg, P., Martin, G. M., Kubisch, C. & Oshima, J., 01.10.2014, In: AM J MED GENET A. 164A, 10, p. 2510-3 4 p.

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

  52. Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits

    Utrobičić, I., Novak, I., Marinović-Terzić, I., Matić, K., Lessel, D., Salamunić, I., Babić, M. S., Kunac, N., Mešin, A. K., Kubisch, C., Maček, B. & Terzić, J., 01.09.2014, In: NEUROSURGERY. 75, 3, p. 276-85

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

  53. Homozygous truncating PTPRF mutation causes athelia

    Borck, G., de Vries, L., Wu, H-J., Smirin-Yosef, P., Nürnberg, G., Lagovsky, I., Ishida, L. H., Thierry, P., Wieczorek, D., Nürnberg, P., Foley, J., Kubisch, C. & Basel-Vanagaite, L., 01.08.2014, In: HUM GENET. 133, 8, p. 1041-7 7 p.

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

  54. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

    Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Désir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W. & Borck, G., 01.07.2014, In: HUM GENET. 133, 7, p. 939-49 11 p.

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

  55. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

    Akimoto, C., Volk, A., van Blitterswijk, M., Van den Broeck, M., Leblond, C. S., Lumbroso, S., Camu, W., Neitzel, B., Onodera, O., van Rheenen, W., Pinto, S., Weber, M., Smith, B., Proven, M., Talbot, K., Keagle, P., Chesi, A., Ratti, A., van der Zee, J., Alstermark, H., Birve, A., Calini, D., Nordin, A., Tradowsky, D. C., Just, W., Daoud, H., Angerbauer, S., DeJesus-Hernandez, M., Konno, T., Lloyd-Jani, A., de Carvalho, M., Mouzat, K., Landers, J. E., Veldink, J. H., Silani, V., Gitler, A. D., Shaw, C. E., Rouleau, G. A., van den Berg, L. H., Van Broeckhoven, C., Rademakers, R., Andersen, P. M. & Kubisch, C., 01.06.2014, In: J MED GENET. 51, 6, p. 419-24 6 p.

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

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