Research ExplorerResearch UnitsInstitute of Human Genetics Publications

Institute of Human Genetics

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Publications

  1. 2011

  2. Ccdc66 null mutation causes retinal degeneration and dysfunction.

    Gerding, W. M., Schreiber, S., Schulte-Middelmann, T., de Castro Marques, A., Atorf, J., Akkad, D. A., Dekomien, G., Kremers, J., Dermietzel, R., Gal, A., Rülicke, T., Ibrahim, S., Epplen, J. T. & Petrasch-Parwez, E., 2011, In: HUM MOL GENET. 20, 18, p. 3620-3631 18.

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

  3. 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

  4. 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

  5. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

    Yis, U., Uyanik, G., Heck, P. B., Smitka, M., Nobel, H., Ebinger, F., Dirik, E., Feng, L., Kurul, S. H., Brocke, K., Unalp, A., Özer, E., Cakmakci, H., Sewry, C., Cirak, S., Muntoni, F., Hehr, U. & Morris-Rosendahl, D. J., 2011, In: NEUROMUSCULAR DISORD. 21, 1, p. 20-30 1.

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

  6. 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

  7. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

    Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G. & Kutsche, K., 2011, In: MOL SYNDROMOL. 2, 1, p. 27-34 1.

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

  8. 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

  9. 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

  10. 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

  11. 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

  12. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

    Huebner, A. K., Gandia, M., Frommolt, P., Maak, A., Wicklein, E. M., Thiele, H., Altmüller, J., Wagner, F., Viñuela, A., Aguirre, L. A., Moreno, F., Maier, H., Rau, I., Giesselmann, S., Nürnberg, G., Gal, A., Nürnberg, P., Hübner, C. A., Ignacio, D. C. & Kurth, I., 2011, In: AM J HUM GENET. 88, 5, p. 621-627 5.

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

  13. N-α-acetyltransferase 10 protein suppresses cancer cell metastasis by binding PIX proteins and inhibiting Cdc42/Rac1 activity.

    Hua, K-T., Tan, C-T., Johansson, G., Lee, J-M., Yang, P-W., Lu, H-Y., Chen, C-K., Su, J-L., Chen, P. B., Wu, Y-L., Chi, C-C., Kao, H-J., Shih, H-J., Chen, M-W., Chien, M-H., Chen, P-S., Lee, W-J., Cheng, T-Y., Rosenberger, G., Chai, C-Y., Yang, C-J., Huang, M-S., Lai, T-C., Chou, T-Y., Hsiao, M. & Kuo, M-L., 2011, In: CANCER CELL. 19, 2, p. 218-231 2.

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

  14. 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

  15. Phenotypic spectrum associated with CASK loss-of-function mutations.

    Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., Engels, H., Hilde, V. E., Grasshoff, U., Heise, M., Isidor, B., Jarvis, J., Koehler, U., Martin, T., Oehl-Jaschkowitz, B., Ortibus, E., Pilz, D. T., Prabhakar, P., Rappold, G., Rau, I., Rettenberger, G., Schlüter, G., Scott, R. H., Shoukier, M., Wohlleber, E., Zirn, B., Dobyns, W. B. & Uyanik, G., 2011, In: J MED GENET. 48, 11, p. 741-751 11.

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

  16. Selective bilateral hippocampal lesions after theophylline-induced status epilepticus causes a permanent amnesic syndrome.

    Kohl, Z., Uyanik, G., Lürding, R., Schuierer, G., Bogdahn, U., Schröder, M. & Weidner, N., 2011, In: J CLIN NEUROSCI. 18, 7, p. 964-966 7.

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

  17. Somatostatin inhibits cell migration and reduces cell counts of human keratinocytes and delays epidermal wound healing in an ex vivo wound model.

    Vockel, M., Pollok, S., Breitenbach, U., Ridderbusch, I., Kreienkamp, H-J. & Brandner, J., 2011, In: PLOS ONE. 6, 5, p. 19740 5.

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

  18. Somatostatin receptor 5 is palmitoylated by the interacting ZDHHC5 palmitoyltransferase.

    Kokkola, T., Kruse, C., Roy-Pogodzik, E-M., Pekkinen, J., Bauch, C., Hönck, H-H., Hennemann, H. & Kreienkamp, H-J., 2011, In: FEBS LETT. 585, 17, p. 2665-2670 17.

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

  19. Talipes equinovarus as leading symptom of congenital myotonic dystrophy type 2.

    Kruse, B. & Gal, A., 2011, In: MUSCLE NERVE. 43, 5, p. 768 5.

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

  20. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

    Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K. & Dobyns, W. B., 2011, In: J MED GENET. 48, 6, p. 396-406 6.

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

  21. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

    Gal, A., Hughes, D. A. & Winchester, B., 2011, In: J INHERIT METAB DIS. 34, 2, p. 509-514 2.

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

  22. 2010

  23. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

    Girisha, K. M., Lewis, L. E., Phadke, S. R. & Kutsche, K., 01.11.2010, In: AM J MED GENET A. 152A, 11, p. 2861-4 4 p.

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

  24. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

    Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., Bonin, M., Riess, O., Wohlleber, E., Illig, T., Bezzina, C. R., Franke, A., Spranger, S., Villavicencio-Lorini, P., Seifert, W., Rosenfeld, J., Klopocki, E., Rappold, G. A. & Strom, T. M., 11.2010, In: HUM MUTAT. 31, 11, p. E1851-60

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

  25. A restricted spectrum of NRAS mutations causes Noonan syndrome.

    Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., Roberts, A. E., Lepri, F., Merbitz-Zahradnik, T., König, R., Kratz, C. P., Pantaleoni, F., Dentici, M. L., Joshi, V. A., Kucherlapati, R. S., Mazzanti, L., Mundlos, S., Patton, M. A., Silengo, M. C., Rossi, C., Zampino, G., Digilio, C., Stuppia, L., Seemanova, E., Pennacchio, L. A., Gelb, B. D., Dallapiccola, B., Wittinghofer, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., 2010, In: NAT GENET. 42, 1, p. 27-29 1.

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

  26. 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

  27. A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

    Steichen-Gersdorf, E., Griesmaier, E., Pientka, F. K., Kotzot, D. & Kutsche, K., 2010, In: CLIN DYSMORPHOL. 19, 2, p. 82-84 2.

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

  28. Clinical, radiological and genetic aspects of leukodystrophies.

    László, A., Elpeleg, O., Horváth, K., Jakobs, C., Kóbor, J., Gal, A., Barsi, P., Kelemen, A., Saracz, J., Svékus, A., Tegzes, A. & Vörös, E., 2010, In: IDEGGYOGY SZEMLE. 63, 7-8, p. 266-273 7-8.

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

  29. 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

  30. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

    Lommel, M., Cirak, S., Willer, T., Hermann, R., Uyanik, G., van Bokhoven, H., Körner, C., Voit, T., Bari, I., Hehr, U. & Strahl, S., 2010, In: NEUROLOGY. 74, 2, p. 157-164 2.

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

  31. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

    Guettsches, A-K., Kuechler, A., Gal, A., Schmitz, W., Tegenthoff, M. & Vorgerd, M., 2010, In: J NEUROL. 257, 8, p. 1394-1395 8.

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

  32. 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

  33. Incontinetia pigmenti-related myopathy or unsolved "double trouble"?

    Huttner, H. B., Richter, G., Jünemann, A., Kress, W., Weis, J., Schröder, J. M., Gal, A., Doerfler, A., Udd, B. & Schröder, R., 2010, In: NEUROMUSCULAR DISORD. 20, 2, p. 139-141 2.

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

  34. Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.

    Abo-Dalo, B., Kutsche, K., Mautner, V. F. & Kluwe, L., 2010, In: GENE CHROMOSOME CANC. 49, 2, p. 171-175 2.

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

  35. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

    Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., Hellenbroich, Y., Kalscheuer, V. M., Kohlhase, J., Moog, U., Rappold, G., Rauch, A., Ropers, H-H., von Spiczak, S., Tönnies, H., Villeneuve, N., Villard, L., Zabel, B., Zenker, M., Laube, B., Reis, A., Wieczorek, D., Lionel, V. M. & Kutsche, K., 2010, In: NAT GENET. 42, 11, p. 1021-1026 11.

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

  36. 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

  37. Neuro-kardio-fazio-kutane Syndrome: Überlappende Phänotypen mit gemeinsamem molekularem Signalweg interdisziplinäres Betreuungskonzept

    Mautner, V. F., Nguyen, R., Bernhardt, A., Von Kodolitsch, Y., Zenker, M. & Kutsche, K., 2010, In: MED GENET-BERLIN. 1, p. 10-19

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

  38. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

    Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Müller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M-A., Kraus, U., Degen, I. & Faes, F., 2010, In: EUR J HUM GENET. 18, 10, p. 1100-1106 10.

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

  39. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

    Langmann, T., Gioia, D., Rau, I., Rau, I., Maksimovic, N. S., Maksimovic, N. S., Corbo, J. C., Renner, A. B., Zrenner, E., Kumaramanickavel, G., Karlstetter, M., Arsenijevic, Y., Gal, A., Gal, A. & Rivolta, C., 2010, In: AM J HUM GENET. 87, 3, p. 376-381 3.

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

  40. Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance.

    Winterer, G., Mittelstrass, K., Giegling, I., Lamina, C., Fehr, C., Brenner, H., Breitling, L. P., Nitz, B., Raum, E., Müller, H., Gallinat, J., Gal, A., Heim, K., Prokisch, H., Meitinger, T., Hartmann, A. M., Möller, H-J., Gieger, C., Wichmann, H-E., Illig, T., Dahmen, N. & Rujescu, D., 2010, In: AM J MED GENET B. 153, 8, p. 1448-1458 8.

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

  41. Somatostatin regulates tight junction function and composition in human keratinocytes.

    Vockel, M., Breitenbach, U., Kreienkamp, H-J. & Brandner, J. M., 2010, In: EXP DERMATOL. 19, 10, p. 888-894 10.

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

  42. The architecture of an excitatory synapse.

    Chua, J. J. E., Kindler, S., Boyken, J. & Jahn, R., 2010, In: J CELL SCI. 123, 6, p. 819-823 6.

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

  43. The face of Noonan syndrome: Does phenotype predict genotype.

    Allanson, J. E., Bohring, A., Dörr, H-G., Dufke, A., Gillessen-Kaesbach, G., Horn, D., König, R., Kratz, C. P., Kutsche, K., Pauli, S., Raskin, S., Rauch, A., Turner, A., Wieczorek, D. & Zenker, M., 2010, In: AM J MED GENET A. 152, 8, p. 1960-1966 8.

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

  44. The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.

    Leviel, F., Hübner, C., Houillier, P., Morla, L., Soumaya, E. M., Brideau, G., Hatim, H., Parker, M. D., Kurth, I., Kougioumtzes, A., Sinning, A., Pech, V., Riemondy, K. A., Miller, R. L., Hummler, E., Shull, G. E., Aronson, P. S., Doucet, A., Wall, S. M., Chambrey, R. & Eladari, D., 2010, In: J CLIN INVEST. 120, 5, p. 1627-1635 5.

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

  45. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

    Kumar, R. A., Pilz, D. T., Babatz, T. D., Cushion, T. D., Harvey, K., Topf, M., Yates, L., Robb, S., Uyanik, G., Mancini, G. M. S., Rees, M. I., Harvey, R. J. & Dobyns, W. B., 2010, In: HUM MOL GENET. 19, 14, p. 2817-2827 14.

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

  46. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

    Fabretto, A., Kutsche, K., Harmsen, M-B., Demarini, S., Gasparini, P., Fertz, M. C. & Zenker, M., 2010, In: EUR J MED GENET. 53, 5, p. 322-324 5.

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

  47. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

    Kim, H-G., Ahn, J-W., Kurth, I., Ullmann, R., Kim, H-T., Kulharya, A., Ha, K-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S-H., Kim, C-H., Ropers, H-H., Gusella, J. F., Kalscheuer, V., Choi, C. Y. & Layman, L. C., 2010, In: AM J HUM GENET. 87, 4, p. 465-479 4.

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

  48. 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

  49. 2009

  50. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

    Mehta, A., Beck, M., Elliott, P., Giugliani, R., Linhart, A., Sunder-Plassmann, G., Schiffmann, R., Barbey, F., Ries, M. & Fabry Outcome Survey investigators, 12.12.2009, In: LANCET. 374, 9706, p. 1986-1996 11 p.

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

  51. Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization

    Hempel, M., Rivera Brugués, N., Wagenstaller, J., Lederer, G., Weitensteiner, A., Seidel, H., Meitinger, T. & Strom, T. M., 10.2009, In: AM J MED GENET A. 149A, 10, p. 2106-12 7 p.

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

  52. Case report of a child with otoacoustic emissions and profound hearing loss in whom otoacoustic emissions were preserved after cochlear implantation

    Beutner, D., Lang-Roth, R., Foerst, A., Volk, A. E. & Walger, M., 09.2009, In: COCHLEAR IMPLANTS IN. 10, 3, p. 174-7 4 p.

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

  53. Kidney transplantation in patients with Fabry disease

    Cybulla, M., Walter, K. N., Schwarting, A., Divito, R., Feriozzi, S., Sunder-Plassmann, G. & European FOS Investigators Group, 04.2009, In: TRANSPL INT. 22, 4, p. 475-481 7 p., 4.

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

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