Christian Kubisch
Publications
- 2014
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
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
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.e1-6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
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
- 2013
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
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
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
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
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
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
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
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. 85Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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, 3Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2012
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
- 2011
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
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
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
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
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. 1978-1986Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 1940-1945Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
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
- 2010
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
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
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
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
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
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
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
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
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
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