Research ExplorerScientific StaffChristian Kubisch Publications

Christian Kubisch

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Publications

  1. 2014

  2. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

    Graul-Neumann, L. M., Deichsel, A., Wille, U., Kakar, N., Koll, R., Bassir, C., Ahmad, J., Cormier-Daire, V., Mundlos, S., Kubisch, C., Borck, G., Klopocki, E., Mueller, T. D., Doelken, S. C. & Seemann, P., 01.06.2014, In: EUR J HUM GENET. 22, 6, p. 726-33 8 p.

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

  3. Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosis

    Lill, C. M., Schilling, M., Ansaloni, S., Schröder, J., Jaedicke, M., Luessi, F., Schjeide, B-M. M., Mashychev, A., Graetz, C., Akkad, D. A., Gerdes, L-A., Kroner, A., Blaschke, P., Hoffjan, S., Winkelmann, A., Dörner, T., Rieckmann, P., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Hartung, H-P., Aktas, O., Lohse, P., Buttmann, M., Kümpfel, T., Kubisch, C., Zettl, U. K., Epplen, J. T., Zipp, F. & Bertram, L., 01.05.2014, In: NEUROGENETICS. 15, 2, p. 129-34 6 p.

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

  4. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

    Hübers, A., Marroquin, N., Schmoll, B., Vielhaber, S., Just, M., Mayer, B., Högel, J., Dorst, J., Mertens, T., Just, W., Aulitzky, A., Wais, V., Ludolph, A. C., Kubisch, C., Weishaupt, J. H. & Volk, A., 01.05.2014, In: NEUROBIOL AGING. 35, 5, p. 1214.e1-6

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

  5. Dopamine transporter deficiency Syndrome: phenotypic spectrum from infancy to adulthood

    Ng, J., Zhen, J., Meyer, E., Erreger, K., Li, Y., Kakar, N., Ahmad, J., Thiele, H., Kubisch, C., Rider, N. L., Morton, D. H., Strauss, K. A., Puffenberger, E. G., D'Agnano, D., Anikster, Y., Carducci, C., Hyland, K., Rotstein, M., Leuzzi, V., Borck, G., Reith, M. E. A. & Kurian, M. A., 01.04.2014, In: BRAIN. 137, 4, p. 1107-19 13 p.

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

  6. Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

    Rosenbohm, A., Kassubek, J., Weydt, P., Marroquin, N., Volk, A., Kubisch, C., Huppertz, H-J., Weber, M., Andersen, P. M., Weishaupt, J. H., Ludolph, A. C. & ALS Schwaben Register Group, 01.02.2014, In: J NEUROL. 261, 2, p. 283-90 8 p.

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

  7. Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia

    Virmani, T., Thenganatt, M. A., Goldman, J. S., Kubisch, C., Greene, P. E. & Alcalay, R. N., 01.02.2014, In: PARKINSONISM RELAT D. 20, 2, p. 245-7 3 p.

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

  8. 2013

  9. Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation

    Kakar, N., Ahmad, J., Kubisch, C. & Borck, G., 01.10.2013, In: AM J MED GENET A. 161, 10, p. 2672-4 3 p.

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

  10. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

    Basel-Vanagaite, L., Hershkovitz, T., Heyman, E., Raspall-Chaure, M., Kakar, N., Smirin-Yosef, P., Vila-Pueyo, M., Kornreich, L., Thiele, H., Bode, H., Lagovsky, I., Dahary, D., Haviv, A., Hubshman, M. W., Pasmanik-Chor, M., Nürnberg, P., Gothelf, D., Kubisch, C., Shohat, M., Macaya, A. & Borck, G., 05.09.2013, In: AM J HUM GENET. 93, 3, p. 524-9 6 p.

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

  11. Genome-wide meta-analysis identifies new susceptibility loci for migraine

    Anttila, V., Winsvold, B. S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., Kallela, M., Malik, R., de Vries, B., Terwindt, G., Medland, S. E., Todt, U., McArdle, W. L., Quaye, L., Koiranen, M., Ikram, M. A., Lehtimäki, T., Stam, A. H., Ligthart, L., Wedenoja, J., Dunham, I., Neale, B. M., Palta, P., Hamalainen, E., Schürks, M., Rose, L. M., Buring, J. E., Ridker, P. M., Steinberg, S., Stefansson, H., Jakobsson, F., Lawlor, D. A., Evans, D. M., Ring, S. M., Färkkilä, M., Artto, V., Kaunisto, M. A., Freilinger, T., Schoenen, J., Frants, R. R., Pelzer, N., Weller, C. M., Zielman, R., Heath, A. C., Madden, P. A. F., Montgomery, G. W., Martin, N. G., Borck, G., Göbel, H., Heinze, A., Heinze-Kuhn, K., Williams, F. M. K., Hartikainen, A-L., Pouta, A., van den Ende, J., Uitterlinden, A. G., Hofman, A., Amin, N., Hottenga, J-J., Vink, J. M., Heikkilä, K., Alexander, M., Muller-Myhsok, B., Schreiber, S., Meitinger, T., Wichmann, H. E., Aromaa, A., Eriksson, J. G., Traynor, B. J., Trabzuni, D., Rossin, E., Lage, K., Jacobs, S. B. R., Gibbs, J. R., Birney, E., Kaprio, J., Penninx, B. W., Boomsma, D. I., van Duijn, C., Raitakari, O., Jarvelin, M-R., Zwart, J-A., Cherkas, 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., Daly, M. J., Nyholt, D. R., Chasman, D. I., Palotie, A. & North American Brain Expression Consortium, 01.08.2013, In: NAT GENET. 45, 8, p. 912-7 6 p.

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

  12. MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

    Lill, C. M., Schjeide, B-M. M., Graetz, C., Ban, M., Alcina, A., Ortiz, M. A., Pérez, J., Damotte, V., Booth, D., Lopez de Lapuente, A., Broer, L., Schilling, M., Akkad, D. A., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Blaschke, P., Buttmann, M., Chan, A., Compston, A., Cournu-Rebeix, I., Dörner, T., Epplen, J. T., Fernández, Ó., Gerdes, L-A., Guillot-Noël, L., Hartung, H-P., Hoffjan, S., Izquierdo, G., Kemppinen, A., Kroner, A., Kubisch, C., Kümpfel, T., Li, S-C., Lindenberger, U., Lohse, P., Lubetzki, C., Luessi, F., Malhotra, S., Mescheriakova, J., Montalban, X., Papeix, C., Paredes, L. F., Rieckmann, P., Steinhagen-Thiessen, E., Winkelmann, A., Zettl, U. K., Hintzen, R., Vandenbroeck, K., Stewart, G., Fontaine, B., Comabella, M., Urcelay, E., Matesanz, F., Sawcer, S., Bertram, L., Zipp, F. & International Multiple Sclerosis Genetics Consortium (IMSGC), 01.06.2013, In: BRAIN. 136, Pt 6, p. 1778-82 5 p.

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

  13. Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

    Saha, B., Lessel, D., Nampoothiri, S., Rao, A. S., Hisama, F. M., Peter, D., Bennett, C., Nürnberg, G., Nürnberg, P., Martin, G. M., Kubisch, C. & Oshima, J., 01.05.2013, In: MOL GENET GENOM MED. 1, 1, p. 7-14 8 p.

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

  14. Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

    Lill, C. M., Schjeide, B-M. M., Graetz, C., Liu, T., Damotte, V., Akkad, D. A., Blaschke, P., Gerdes, L-A., Kroner, A., Luessi, F., Cournu-Rebeix, I., Hoffjan, S., Winkelmann, A., Touze, E., Pico, F., Corcia, P., Otaegui, D., Antigüedad, A., Alcina, A., Comabella, M., Montalban, X., Olascoaga, J., Matesanz, F., Dörner, T., Li, S-C., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Rieckmann, P., Hartung, H-P., Aktas, O., Lohse, P., Buttmann, M., Kümpfel, T., Kubisch, C., Zettl, U. K., Epplen, J. T., Fontaine, B., Zipp, F., Vandenbroeck, K. & Bertram, L., 01.03.2013, In: J MED GENET. 50, 3, p. 140-3 4 p.

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

  15. A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation

    Volk, A., Lang-Roth, R., Yigit, G., Borck, G., Nuernberg, G., Rosenkranz, S., Nuernberg, P., Kubisch, C. & Beutner, D., 01.01.2013, In: AUDIOL NEURO-OTOL. 18, 3, p. 192-9 8 p.

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

  16. A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release

    Sauter, D., Hotter, D., Engelhart, S., Giehler, F., Kieser, A., Kubisch, C. & Kirchhoff, F., 01.01.2013, In: RETROVIROLOGY. 10, p. 85

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

  17. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

    Wildhardt, G., Zirn, B., Graul-Neumann, L. M., Wechtenbruch, J., Suckfüll, M., Buske, A., Bohring, A., Kubisch, C., Vogt, S., Strobl-Wildemann, G., Greally, M., Bartsch, O. & Steinberger, D., 01.01.2013, In: BMJ OPEN. 3, 3

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

  18. Ausgewählte Ionenkanalerkrankungen des peripheren Nervensystems

    Borck, G. & Kubisch, C., 2013, In: MED GENET-BERLIN. 25, 4, p. 448-453 6 p.

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

  19. 2012

  20. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

    Kakar, N., Goebel, I., Daud, S., Nürnberg, G., Agha, N., Ahmad, A., Nürnberg, P., Kubisch, C., Ahmad, J. & Borck, G., 2012, In: EUR J MED GENET. 55, 12, p. 727-731 12.

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

  21. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

    von Ameln, S., Wang, G., Boulouiz, R., Rutherford, M. A., Smith, G. M., Li, Y., Pogoda, H-M., Nürnberg, G., Stiller, B., Volk, A., Borck, G., Hong, J. S., Goodyear, R. J., Abidi, O., Nürnberg, P., Hofmann, K., Richardson, G. P., Hammerschmidt, M., Moser, T., Wollnik, B., Koehler, C. M., Teitell, M. A., Barakat, A. & Kubisch, C., 2012, In: AM J HUM GENET. 91, 5, p. 919-927 5.

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

  22. An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

    Borck, G., Kakar, N., Hoch, J., Friedrich, K., Freudenberg, J., Nürnberg, G., Yilmaz, R., Daud, S., Baloch, D. M., Nürnberg, P., Oldenburg, J., Ahmad, J. & Kubisch, C., 2012, In: HUM GENET. 131, 2, p. 209-216 2.

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

  23. A phenotype map for 14q32.3 terminal deletions.

    Engels, H., Schüler, H. M., Zink, A. M., Wohlleber, E., Brockschmidt, A., Hoischen, A., Drechsler, M., Lee, J. A., Ludwig, K. U., Kubisch, C., Schwanitz, G., Weber, R. G., Leube, B., Hennekam, R. C. M., Rudnik-Schöneborn, S., Kreiss-Nachtsheim, M. & Reutter, H., 2012, In: AM J MED GENET A. 158A, 4, p. 695-706 4.

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

  24. Clinical utility gene card for: Werner syndrome.

    Hisama, F. M., Kubisch, C., Martin, G. M. & Oshima, J., 2012, In: EUR J HUM GENET. 20, 5, 5.

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

  25. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.

    Lill, C. M., Liu, T., Schjeide, B-M. M., Roehr, J. T., Akkad, D. A., Damotte, V., Alcina, A., Ortiz, M. A., Arroyo, R., Aitzkoa, L. D. L., Blaschke, P., Winkelmann, A., Gerdes, L-A., Luessi, F., Fernadez, O., Izquierdo, G., Antigüedad, A., Hoffjan, S., Cournu-Rebeix, I., Gromöller, S., Faber, H., Liebsch, M., Meissner, E., Chanvillard, C., Touze, E., Pico, F., Corcia, P., Dörner, T., Steinhagen-Thiessen, E., Baeckman, L., Heekeren, H. R., Li, S-C., Lindenberger, U., Chan, A., Hartung, H-P., Aktas, O., Lohse, P., Kümpfel, T., Kubisch, C., Zettl, U. K., Fontaine, B., Vandenbroeck, K., Matesanz, F., Urcelay, E., Bertram, L. & Zipp, F., 2012, In: J MED GENET. 49, 9, p. 558-562 9.

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

  26. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

    Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., Thiele, H., Edwards, A., Arends, M. J., Miró, X., White, J. K., Désir, J., Abramowicz, M., Dentici, M. L., Lepri, F., Hofmann, K., Har-Zahav, A., Ryder, E., Karp, N. A., Estabel, J., Gerdin, A-K. B., Podrini, C., Ingham, N. J., Altmüller, J., Nürnberg, G., Frommolt, P., Abdelhak, S., Pasmanik-Chor, M., Konen, O., Kelley, R. I., Shohat, M., Nürnberg, P., Flint, J., Steel, K. P., Hoppe, T., Kubisch, C., Adams, D. J. & Borck, G., 2012, In: AM J HUM GENET. 91, 6, p. 998-1010 6.

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

  27. eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

    Borck, G., Shin, B-S., Stiller, B., Mimouni-Bloch, A., Thiele, H., Kim, J-R., Thakur, M., Skinner, C., Aschenbach, L., Smirin-Yosef, P., Har-Zahav, A., Nürnberg, G., Altmüller, J., Frommolt, P., Hofmann, K., Konen, O., Nürnberg, P., Munnich, A., Schwartz, C. E., Gothelf, D., Colleaux, L., Dever, T. E., Kubisch, C. & Basel-Vanagaite, L., 2012, In: MOL CELL. 48, 4, p. 641-646 4.

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

  28. Genome-wide association analysis identifies susceptibility loci for migraine without aura.

    Freilinger, T., Anttila, V., de Vries, B., Malik, R., Kallela, M., Terwindt, G. M., Pozo-Rosich, P., Winsvold, B., Nyholt, D. R., Oosterhout, V., Willebrordus, P. J., Artto, V., Todt, U., Hämäläinen, E., Fernández-Morales, J., Louter, M. A., Kaunisto, M. A., Schoenen, J., Raitakari, O., Lehtimäki, T., Vila-Pueyo, M., Göbel, H., Wichmann, E., Sintas, C., Uitterlinden, A. G., Hofman, A., Rivadeneira, F., Heinze, A., Tronvik, E., Duijn, V., Cornelia, M., Kaprio, J., Cormand, B., Wessman, M., Frants, R. R., Meitinger, T., Müller-Myhsok, B., Zwart, J-A., Färkkilä, M., Kubisch, C., Ferrari, M. D., Palotie, A., Dichgans, M., Maagdenberg, V. D., Arn, M. J. M. & Consortium, I. H. G., 2012, In: NAT GENET. 44, 7, p. 777-782 7.

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

  29. High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

    Borck, G., Rainshtein, L., Hellman-Aharony, S., Volk, A., Friedrich, K., Taub, E., Magal, N., Kanaan, M., Kubisch, C., Shohat, M. & Basel-Vanagaite, L., 2012, In: CLIN GENET. 82, 3, p. 271-276 3.

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

  30. Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.

    Lill, C. M., Schjeide, B-M. M., Akkad, D. A., Blaschke, P., Winkelmann, A., Gerdes, L-A., Hoffjan, S., Luessi, F., Dörner, T., Li, S-C., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Hartung, H-P., Aktas, O., Lohse, P., Kümpfel, T., Kubisch, C., Epplen, J. T., Zettl, U. K., Bertram, L. & Zipp, F., 2012, In: NEUROGENETICS. 13, 1, p. 83-86 1.

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

  31. Rare hereditary diseases with defects in DNA-repair.

    Knoch, J., Kamenisch, Y., Kubisch, C. & Berneburg, M., 2012, In: EUR J DERMATOL. 22, 4, p. 443-455 4.

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

  32. Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.

    Lessel, D., Gamulin, M., Kulis, T., Toliat, M. R., Grgic, M., Friedrich, K., Zunec, R., Balija, M., Nürnberg, P., Kastelan, Z., Högel, J. & Kubisch, C., 2012, In: CARCINOGENESIS. 33, 8, p. 1548-1552 8.

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

  33. Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.

    Schmitt, I., Wüllner, U., Rooyen, V., Pierre, J., Khazneh, H., Becker, J., Volk, A., Kubisch, C., Becker, T., Kostic, V. S., Klein, C. & Ramirez, A., 2012, In: EUR J HUM GENET. 20, 12, p. 1265-1269 12.

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

  34. Werner Syndrom - eine prototypische Form der segmentalen Progerie

    Lessel, D., Oshima, J. & Kubisch, C., 2012, In: MED GENET-BERLIN. 24, 4, p. 262-267 6 p.

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

  35. 2011

  36. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

    Borck, G., Wunram, H., Steiert, A., Volk, A., Körber, F., Roters, S., Herkenrath, P., Wollnik, B., Morris-Rosendahl, D. J. & Kubisch, C., 2011, In: HUM GENET. 129, 1, p. 45-50 1.

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

  37. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

    Hisama, F. M., Lessel, D., Leistritz, D., Friedrich, K., McBride, K. L., Pastore, M. T., Gottesman, G. S., Saha, B., Martin, G. M., Kubisch, C. & Oshima, J., 2011, In: AM J MED GENET A. 155A, 12, p. 3002-3006 12.

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

  38. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.

    Laue, K., Pogoda, H-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., Rachwalski, M., Morgan, T., Gray, M. J., Breuning, M. H., Sawyer, G. M., Sutherland-Smith, A. J., Nikkels, P. G., Kubisch, C., Bloch, W., Wollnik, B., Hammerschmidt, M. & Robertson, S. P., 2011, In: AM J HUM GENET. 89, 5, p. 595-606 5.

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

  39. Genome-wide association study reveals three susceptibility loci for common migraine in the general population.

    Chasman, D. I., Schürks, M., Anttila, V., de Vries, B., Schminke, U., Launer, L. J., Terwindt, G. M., Maagdenberg, V. D., Arn, M. J. M., Fendrich, K., Völzke, H., Ernst, F., Griffiths, L. R., Buring, J. E., Kallela, M., Kubisch, C., Ridker, P. M., Palotie, A., Ferrari, M. D., Hoffmann, W., Zee, R. Y. L. & Kurth, T., 2011, In: NAT GENET. 43, 7, p. 695-698 7.

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

  40. Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

    Volk, A. E., Carter, O., Fricke, J., Herkenrath, P., Poggenborg, J., Borck, G., Demant, A. W., Ivo, R., Eysel, P., Kubisch, C. & Neugebauer, A., 2011, In: MOL VIS. 17, p. 1978-1986

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

  41. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

    Ahmad, A., Daud, S., Kakar, N., Nürnberg, G., Nürnberg, P., Babar, M. E., Thoenes, M., Kubisch, C., Ahmad, J. & Bolz, H. J., 2011, In: MOL VIS. 17, p. 1940-1945

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

  42. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

    Borck, G., Atteeq, U. R., Lee, K., Pogoda, H-M., Kakar, N., von Ameln, S., Grillet, N., Hildebrand, M. S., Ahmed, Z. M., Nürnberg, G., Ansar, M., Basit, S., Javed, Q., Morell, R. J., Nasreen, N., Shearer, A. E., Ahmad, A., Kahrizi, K., Shaikh, R. S., Ali, R. A., Khan, S. N., Goebel, I., Meyer, N. C., Kimberling, W. J., Webster, J. A., Stephan, D. A., Schiller, M. R., Bahlo, M., Najmabadi, H., Gillespie, P. G., Nürnberg, P., Wollnik, B., Riazuddin, S., Smith, R. J. H., Ahmad, W., Müller, U., Hammerschmidt, M., Friedman, T. B., Riazuddin, S., Leal, S. M., Ahmad, J. & Kubisch, C., 2011, In: AM J HUM GENET. 88, 2, p. 127-137 2.

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

  43. Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.

    Ugolino, J., Fang, S., Kubisch, C. & Monteiro, M. J., 2011, In: HUM MOL GENET. 20, 18, p. 3565-3577 18.

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

  44. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

    Park, J-S., Mehta, P., Cooper, A. A., Veivers, D., Heimbach, A., Stiller, B., Kubisch, C., Fung, V. S., Krainc, D., Mackay-Sim, A. & Sue, C. M., 2011, In: HUM MUTAT. 32, 8, p. 956-964 8.

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

  45. 2010

  46. Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

    Volk, A., Fricke, J., Strobl, J., Kolling, G., Kubisch, C. & Neugebauer, A., 2010, In: GRAEF ARCH CLIN EXP. 248, 9, p. 1351-1357 9.

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

  47. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

    Wilch, E., Azaiez, H., Fisher, R. A., Elfenbein, J., Murgia, A., Birkenhäger, R., Bolz, H., Da Silva-Costa, S. M., Del Castillo, I., Haaf, T., Hoefsloot, L., Kremer, H., Kubisch, C., Le Marechal, C., Pandya, A., Sartorato, E. L., Schneider, E., Van Camp, G., Wuyts, W., Smith, R. J. H. & Friderici, K. H., 2010, In: CLIN GENET. 78, 3, p. 267-274 3.

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

  48. A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

    Saha, B., Lessel, D., Hisama, F. M., Leistritz, D. F., Friedrich, K., Martin, G. M., Kubisch, C. & Oshima, J., 2010, In: MOL SYNDROMOL. 1, 3, p. 127-132 3.

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

  49. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

    Borck, G., Beighton, P., Wilhelm, C., Kohlhase, J. & Kubisch, C., 2010, In: AM J MED GENET A. 152A, 8, p. 2090-2093 8.

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

  50. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

    Behrens, M. I., Brüggemann, N., Chana, P., Venegas, P., Kägi, M., Parrao, T., Orellana, P., Garrido, C., Rojas, C. V., Hauke, J., Hahnen, E., González, R., Seleme, N., Fernández, V., Schmidt, A., Binkofski, F., Kömpf, D., Kubisch, C., Hagenah, J., Klein, C. & Ramirez, A., 2010, In: MOVEMENT DISORD. 25, 12, p. 1929-1937 12.

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

  51. First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis.

    Li, Y., Pabst, S., Kubisch, C., Grohé, C. & Wollnik, B., 2010, In: THORAX. 65, 10, p. 939-940 10.

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

  52. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

    Anttila, V., Stefansson, H., Kallela, M., Todt, U., Terwindt, G. M., Calafato, M. S., Nyholt, D. R., Dimas, A. S., Freilinger, T., Müller-Myhsok, B., Artto, V., Inouye, M., Alakurtti, K., Kaunisto, M. A., Hämäläinen, E., de Vries, B., Stam, A. H., Weller, C. M., Heinze, A., Heinze-Kuhn, K., Goebel, I., Borck, G., Göbel, H., Steinberg, S., Wolf, C., Björnsson, A., Gudmundsson, G., Kirchmann, M., Hauge, A., Werge, T., Schoenen, J., Eriksson, J. G., Hagen, K., Stovner, L., Wichmann, H-E., Meitinger, T., Alexander, M., Moebus, S., Schreiber, S., Aulchenko, Y. S., Breteler, M. M. B., Uitterlinden, A. G., Hofman, A., Duijn, V., Cornelia, M., Tikka-Kleemola, P., Vepsäläinen, S., Lucae, S., Tozzi, F., Muglia, P., Barrett, J., Kaprio, J., Färkkilä, M., Peltonen, L., Stefansson, K., Zwart, J-A., Ferrari, M. D., Olesen, J., Daly, M., Wessman, M., Maagdenberg, V. D., Kubisch, C., Dichgans, M., Dermitzakis, E. T., Frants, R. R., Palotie, A. & Consortium, I. H. G., 2010, In: NAT GENET. 42, 10, p. 869-873 10.

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

  53. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

    Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., Ramser, J., Honisch, E., Kubisch, C., Wichmann, H. E., Kast, K., Deissler, H., Engel, C., Müller-Myhsok, B., Neveling, K., Kiechle, M., Mathew, C. G., Schindler, D., Schmutzler, R. K. & Hanenberg, H., 2010, In: NAT GENET. 42, 5, p. 410-414 5.

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

  54. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

    Li, Y., Pohl, E., Boulouiz, R., Schraders, M., Nürnberg, G., Charif, M., Admiraal, R. J. C., von Ameln, S., Baessmann, I., Kandil, M., Veltman, J. A., Nürnberg, P., Kubisch, C., Barakat, A., Kremer, H. & Wollnik, B., 2010, In: AM J HUM GENET. 86, 3, p. 479-484 3.

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

  55. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

    Friedrich, K., Lee, L., Leistritz, D. F., Nürnberg, G., Saha, B., Hisama, F. M., Eyman, D. K., Lessel, D., Nürnberg, P., Li, C., Garcia-F-Villalta, M. J., Kets, C. M., Schmidtke, J., Cruz, V. T., Akker, V. D., Peter, C., Boak, J., Peter, D., Compoginis, G., Cefle, K., Ozturk, S., López, N., Wessel, T., Poot, M., Ippel, P. F., Groff-Kellermann, B., Hoehn, H., Kubisch, C. & Oshima, J., 2010, In: HUM GENET. 128, 1, p. 103-111 1.

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

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