Research ExplorerResearch UnitsInstitute of Human Genetics Publications

Institute of Human Genetics

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Publications

  1. 2014

  2. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

    Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Gießelmann, S., Beil, F. T., Pou-Serradell, A., Vílchez, J. J., Beetz, C., Deconinck, T., Timmerman, V., Kaether, C., De Jonghe, P., Hübner, C. A., Gal, A., Amling, M., Mundlos, S., Baets, J. & Kurth, I., 01.03.2014, In: BRAIN. 137, 3, p. 683-92 10 p.

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

  3. Leukocyte extravasation and vascular permeability are each controlled in vivo by different tyrosine residues of VE-cadherin

    Wessel, F., Winderlich, M., Holm, M., Frye, M., Rivera-Galdos, R., Vockel, M., Linnepe, R., Ipe, U., Stadtmann, A., Zarbock, A., Nottebaum, A. F. & Vestweber, D., 03.2014, In: NAT IMMUNOL. 15, 3, p. 223-30 8 p.

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

  4. Subcellular sorting of the G-protein coupled mouse somatostatin receptor 5 by a network of PDZ-domain containing proteins

    Bauch, C., Koliwer, J., Buck, F., Hönck, H-H. & Kreienkamp, H-J., 11.02.2014, In: PLOS ONE. 9, 2, p. e88529

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

  5. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

    Stumm, M., Entezami, M., Haug, K., Blank, C., Wüstemann, M., Schulze, B., Raabe-Meyer, G., Hempel, M., Schelling, M., Ostermayer, E., Langer-Freitag, S., Burkhardt, T., Zimmermann, R., Schleicher, T., Weil, B., Schöck, U., Smerdka, P., Grömminger, S., Kumar, Y. & Hofmann, W., 02.2014, In: PRENATAL DIAG. 34, 2, p. 185-91 7 p.

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

  6. A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA

    Falley, K., Ölschläger-Schütt, J., Buck, F., Richter, D., Sala, C., Bockmann, J., Kindler, S. & Kreienkamp, H-J., 01.01.2014, In: PLOS ONE. 9, 2, p. e88518

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

  7. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8

    Schmidt, T., Bierhals, T., Kortüm, F., Bartels, I., Liehr, T., Burfeind, P., Shoukier, M., Frank, V., Bergmann, C. & Kutsche, K., 01.01.2014, In: CYTOGENET GENOME RES. 142, 1, p. 1-6 6 p.

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

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

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

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

  9. KIT mutations in primary mediastinal B-cell lymphoma

    Nagel, P. D., Stenzinger, A., Feld, F. M., Herrmann, M. D., Brüderlein, S., Barth, T. F. E., Marienfeld, R., Endris, V., Weichert, W., Debatin, K-M., Westhoff, M-A., Lessel, D., Möller, P. & Lennerz, J. K., 01.01.2014, In: BLOOD CANCER J. 4, 8, p. e241

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

  10. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Sheikhzadeh, S., Sondermann, C., Rybczynski, M., Habermann, C. R., Brockstädt, L., Keyser, B., Kaemmerer, H., Mir, T., Staebler, A., Robinson, P. N., Kutsche, K., Berger, J., Blankenberg, S. & Kodolitsch, Y., 2014, In: CLIN GENET. 86, 3, p. 238-245

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

  11. Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

    de Almeida, H. L., Rossi, G., de Abreu, L. B., Bergamaschi, C., da Silva, A. B. & Kutsche, K., 2014, In: AN BRAS DERMATOL. 89, 1, p. 180-1 2 p.

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

  12. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

    Seifert, W., Meinecke, P., Krüger, G., Rossier, E., Heinritz, W., Wüsthof, A. & Horn, D., 2014, In: BMC MED GENET. 15, p. 127

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

  13. Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa

    Linder, B., Hirmer, A., Gal, A., Rüther, K., Bolz, H. J., Winkler, C., Laggerbauer, B. & Fischer, U., 2014, In: PLOS ONE. 9, 11, p. e111754

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

  14. Right ventricular stroke volume variation: a tool to assess right ventricular volume responsiveness

    Kubitz, J., Richter, H. P., Petersen, C., Goetz, A. & Reuter, D., 2014, In: MINERVA ANESTESIOL. 80, 9, p. 992-995

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

  15. 2013

  16. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

    Chilian, B., Abdollahpour, H., Bierhals, T., Haltrich, I., Fekete, G., Nagel, I., Rosenberger, G. & Kutsche, K., 01.12.2013, In: CLIN GENET. 84, 6, p. 560-5 6 p.

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

  17. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

    Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B. & Beggs, A. H., 01.12.2013, In: EUR J MED GENET. 56, 12, p. 678-82 5 p.

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

  18. CASK-Related Disorders

    Moog, U., Uyanik, G. & Kutsche, K., 26.11.2013, In: GeneReviews®.

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

  19. A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

    Leutermann, R., Sheikhzadeh, S., Brockstädt, L., Rybczynski, M., van Rahden, V., Kutsche, K., Kodolitsch, Y. & Rosenberger, G., 06.11.2013, In: EUR J HUM GENET. 22, p. 944-948

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

  20. Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiation

    Laban, S., Steinmeister, L., Gleißner, L., Grob, T. J., Grénman, R., Petersen, C., Gal, A., Knecht, R., Dikomey, E. & Kriegs, M., 01.11.2013, In: RADIOTHER ONCOL. 109, 2, p. 286-92 7 p.

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

  21. 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

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

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

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

  23. Zerebrale Auffälligkeiten im fetalen MRT – Pränatale Diagnose einer tuberösen Sklerose

    de Sousa, M. T., Remus, C. C., Lüttgen, S., Diehl, W., Hecher, K. & Diemert, A., 01.10.2013, In: Z GEBURTSH NEONATOL. 217, 5, p. 189-90 2 p.

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

  24. SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region

    Mameza, M. G., Dvoretskova, E., Bamann, M., Hönck, H-H., Güler, T., Boeckers, T. M., Schoen, M., Verpelli, C., Sala, C., Barsukov, I., Dityatev, A. & Kreienkamp, H-J., 13.09.2013, In: J BIOL CHEM. 288, 37, p. 26697-708 12 p.

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

  25. 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

  26. 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

  27. The Legionella effector RidL inhibits retrograde trafficking to promote intracellular replication

    Finsel, I., Ragaz, C., Hoffmann, C., Harrison, C. F., Weber, S., van Rahden, V. A., Johannes, L. & Hilbi, H., 17.07.2013, In: CELL HOST MICROBE. 14, 1, p. 38-50 13 p.

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

  28. Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma

    Gempt, J., Baldawa, S. S., Weirich, G., Delbridge, C., Hempel, M., Lohse, P., Meyer, B. & Ringel, F., 07.2013, In: ACTA NEUROCHIR. 155, 7, p. 1241-2 2 p.

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

  29. 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

  30. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations

    Bierhals, T., Korenke, G. C., Uyanik, G. & Kutsche, K., 01.06.2013, In: EUR J MED GENET. 56, 6, p. 325-30 6 p.

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

  31. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2

    Salem, N. J. M., Hempel, M., Heiliger, K-J., Hosie, S., Meitinger, T. & Oexle, K., 06.2013, In: AM J MED GENET A. 161A, 6, p. 1421-4 4 p.

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

  32. A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

    Ingre, C., Landers, J. E., Rizik, N., Volk, A. E., Akimoto, C., Birve, A., Hübers, A., Keagle, P. J., Piotrowska, K., Press, R., Andersen, P. M., Ludolph, A. C. & Weishaupt, J. H., 06.2013, In: NEUROBIOL AGING. 34, 6, p. 1708.e1-6

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

  33. 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

  34. Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons

    Meseke, M., Rosenberger, G. & Förster, E., 01.05.2013, In: EUR J NEUROSCI. 37, 9, p. 1404-12 9 p.

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

  35. A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

    Weishaupt, J. H., Waibel, S., Birve, A., Volk, A. E., Mayer, B., Meyer, T., Ludolph, A. C. & Andersen, P. M., 05.2013, In: NEUROBIOL AGING. 34, 5, p. 1516.e9-15

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

  36. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

    Jae, L. T., Raaben, M., Riemersma, M., van Beusekom, E., Blomen, V. A., Velds, A., Kerkhoven, R. M., Carette, J. E., Topaloglu, H., Meinecke, P., Wessels, M. W., Lefeber, D. J., Whelan, S. P., van Bokhoven, H. & Brummelkamp, T. R., 26.04.2013, In: SCIENCE. 340, 6131, p. 479-83 5 p.

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

  37. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

    Lorenz, S., Lissewski, C., Simsek-Kiper, P. O., Alanay, Y., Boduroglu, K., Zenker, M. & Rosenberger, G., 15.04.2013, In: HUM MOL GENET. 22, 8, p. 1643-53 11 p.

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

  38. Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

    Hüning, I., Kutsche, K., Rajaei, S., Erlandsson, A., Lovmar, L., Rundberg, J. & Stefanova, M., 01.04.2013, In: EUR J MED GENET. 56, 4, p. 188-91 4 p.

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

  39. 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

  40. Parthenogenetic stem cells for tissue-engineered heart repair

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

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

  41. The RNA-binding protein MARTA2 regulates dendritic targeting of MAP2 mRNAs in rat neurons

    Zivraj, K. H., Rehbein, M., Ölschläger-Schütt, J., Schob, C., Falley, K., Buck, F., Schweizer, M., Schepis, A., Kremmer, E., Richter, D., Kreienkamp, H-J. & Kindler, S., 01.03.2013, In: J NEUROCHEM. 124, 5, p. 670-84 15 p.

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

  42. Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

    Waibel, S., Neumann, M., Rosenbohm, A., Birve, A., Volk, A. E., Weishaupt, J. H., Meyer, T., Müller, U., Andersen, P. M. & Ludolph, A. C., 03.2013, In: EUR J NEUROL. 20, 3, p. 540-6 7 p.

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

  43. Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men

    Bayer, J., Rune, G., Kutsche, K., Schwarze, U., Kalisch, R., Büchel, C. & Sommer-Blöchl, T., 01.02.2013, In: HIPPOCAMPUS. 23, 2, p. 117-21 5 p.

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

  44. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature

    Bierhals, T., Maddukuri, S. B., Kutsche, K. & Girisha, K. M., 01.02.2013, In: AM J MED GENET A. 161A, 2, p. 352-9 8 p.

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

  45. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

    Cushion, T. D., Dobyns, W. B., Mullins, J. G. L., Stoodley, N., Chung, S-K., Fry, A. E., Hehr, U., Gunny, R., Aylsworth, A. S., Prabhakar, P., Uyanik, G., Rankin, J., Rees, M. I. & Pilz, D. T., 01.02.2013, In: BRAIN. 136, Pt 2, p. 536-48 13 p.

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

  46. Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation

    Schulte, E. C., Claussen, M. C., Jochim, A., Haack, T., Hartig, M., Hempel, M., Prokisch, H., Haun-Jünger, U., Winkelmann, J., Hemmer, B., Förschler, A. & Ilg, R., 02.2013, In: MOVEMENT DISORD. 28, 2, p. 224-7 4 p.

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

  47. 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

  48. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

    Eisenberger, T., Neuhaus, C., Khan, A. O., Decker, C., Preising, M. N., Friedburg, C., Bieg, A., Gliem, M., Charbel Issa, P., Holz, F. G., Baig, S. M., Hellenbroich, Y., Galvez, A., Platzer, K., Wollnik, B., Laddach, N., Ghaffari, S. R., Rafati, M., Botzenhart, E., Tinschert, S., Börger, D., Bohring, A., Schreml, J., Körtge-Jung, S., Schell-Apacik, C., Bakur, K., Al-Aama, J. Y., Neuhann, T., Herkenrath, P., Nürnberg, G., Nürnberg, P., Davis, J. S., Gal, A., Bergmann, C., Lorenz, B. & Bolz, H. J., 01.01.2013, In: PLOS ONE. 8, 11, p. e78496

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

  49. 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

  50. 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

  51. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

    Dobson-Stone, C., Hallupp, M., Loy, C. T., Thompson, E. M., Haan, E., Sue, C. M., Panegyres, P. K., Razquin, C., Seijo-Martínez, M., Rene, R., Gascon, J., Campdelacreu, J., Schmoll, B., Volk, A. E., Brooks, W. S., Schofield, P. R., Pastor, P. & Kwok, J. B. J., 2013, In: PLOS ONE. 8, 2, p. e56899

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

  52. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

    Piña-Aguilar, R. E., Zaragoza-Arévalo, G. R., Rau, I., Gal, A., Alcántara-Ortigoza, M. A., López-Martínez, M. S. & Santillán-Hernández, Y., 2013, In: EUR J MED GENET. 56, 3, p. 159-162 3.

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

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