Research ExplorerResearch UnitsInstitute of Human Genetics Publications

Institute of Human Genetics

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Publications

  1. 2017

  2. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

    Hempel, M., Kremer, L. S., Tsiakas, K., Alhaddad, B., Haack, T. B., Löbel, U., Feichtinger, R. G., Sperl, W., Prokisch, H., Mayr, J. A. & Santer, R., 08.07.2017, In: MITOCHONDRION.

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

  3. Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases

    Groth, K. A., Kodolitsch, Y., Kutsche, K., Gaustadnes, M., Thorsen, K., Andersen, N. H. & Gravholt, C. H., 07.2017, In: GENET MED. 19, 7, p. 772-777

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

  4. Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD

    Lehmer, C., Oeckl, P., Weishaupt, J. H., Volk, A. E., Diehl-Schmid, J., Schroeter, M. L., Lauer, M., Kornhuber, J., Levin, J., Fassbender, K., Landwehrmeyer, B., Schludi, M. H., Arzberger, T., Kremmer, E., Flatley, A., Feederle, R., Steinacker, P., Weydt, P., Ludolph, A. C., Edbauer, D., Otto, M. & German Consortium for Frontotemporal Lobar Degeneration, 07.2017, In: EMBO MOL MED. 9, 7, p. 859-868 10 p.

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

  5. Differentiation of cardiomyocytes and generation of human engineered heart tissue

    Breckwoldt, K., Letuffe-Brenière, D., Mannhardt, I., Schulze, T., Ulmer, B., Werner, T., Benzin, A., Klampe, B., Reinsch, M. C., Laufer, S., Shibamiya, A., Prondzynski, M., Mearini, G., Schade, D., Fuchs, S., Neuber, C., Krämer, E., Saleem, U., Schulze, M. L., Rodriguez, M. L., Eschenhagen, T. & Hansen, A., 06.2017, In: NAT PROTOC. 12, 6, p. 1177-1197 21 p.

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

  6. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Hempel, M., Brilstra, E., Knoers, N., Verbeek, N., van Kempen, M., Braun, K. P., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brückner, R., Pietz, J., Golla, G., Jillella, D., Linnet, K. M., Charles, P., Moog, U., Õiglane-Shlik, E., Mantovani, J. F., Park, K., Deprez, M., Lederer, D., Mary, S., Scalais, E., Selim, L., Van Coster, R., Lagae, L., Nikanorova, M., Hjalgrim, H., Korenke, G. C., Trivisano, M., Specchio, N., Ceulemans, B., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Krägeloh-Mann, I., Helbig, I., Kluger, G., Lerche, H. & Møller, R. S., 01.05.2017, In: BRAIN. 140, 5, p. 1316-1336 21 p.

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

  7. Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

    Podolska, A., Kobelt, A., Fuchs, S., Hackmann, K., Rump, A., Schröck, E., Kutsche, K. & Di Donato, N., 05.2017, In: AM J MED GENET A. 173, 5, p. 1334-1341

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

  8. SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras

    Lilja, J., Zacharchenko, T., Georgiadou, M., Jacquemet, G., Franceschi, N. D., Peuhu, E., Hamidi, H., Pouwels, J., Martens, V., Nia, F. H., Beifuss, M., Boeckers, T. M., Kreienkamp, H-J., Barsukov, I. L. & Ivaska, J., 04.2017, In: NAT CELL BIOL. 19, 4, p. 292-305 14 p.

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

  9. Lessons learned from additional research analyses of unsolved clinical exome cases

    Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., Wiszniewski, W., Penney, S., Liu, P., Bi, W., Lalani, S. R., Schaaf, C. P., Wangler, M. F., Bacino, C. A., Lewis, R. A., Potocki, L., Graham, B. H., Belmont, J. W., Scaglia, F., Orange, J. S., Jhangiani, S. N., Chiang, T., Doddapaneni, H., Hu, J., Muzny, D. M., Xia, F., Beaudet, A. L., Boerwinkle, E., Eng, C. M., Plon, S. E., Sutton, V. R., Gibbs, R. A., Posey, J. E., Yang, Y. & Lupski, J. R., 21.03.2017, In: GENOME MED. 9, 1, p. 26

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

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

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

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

  11. Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias

    Steinacker, P., Semler, E., Anderl-Straub, S., Diehl-Schmid, J., Schroeter, M. L., Uttner, I., Foerstl, H., Landwehrmeyer, B., von Arnim, C. A. F., Kassubek, J., Oeckl, P., Huppertz, H-J., Fassbender, K., Fliessbach, K., Prudlo, J., Roßmeier, C., Kornhuber, J., Schneider, A., Volk, A. E., Lauer, M., Danek, A., Ludolph, A. C., Otto, M. & FTLDc Study Group, 03.2017, In: NEUROLOGY. 88, 10, p. 961-969

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

  12. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In: AM J HUM GENET. 100, 2, p. 281-296

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

  13. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

    Gripp, K. W., Kolbe, V., Brandenstein, L. I. & Rosenberger, G., 31.01.2017, In: CLIN GENET. 92, 3, p. 332-337

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

  14. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Harms, F. L., Girisha, K. M., Hardigan, A. A., Kortüm, F., Shukla, A., Alawi, M., Dalal, A., Brady, L., Tarnopolsky, M., Bird, L. M., Ceulemans, S., Bebin, M., Bowling, K. M., Hiatt, S. M., Lose, E. J., Primiano, M., Chung, W. K., Juusola, J., Akdemir, Z. C., Bainbridge, M., Charng, W-L., Drummond-Borg, M., Eldomery, M. K., El-Hattab, A. W., Saleh, M. A. M., Bézieau, S., Cogné, B., Isidor, B., Küry, S., Lupski, J. R., Myers, R. M., Cooper, G. M. & Kutsche, K., 05.01.2017, In: AM J HUM GENET. 100, 1, p. 117-127

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

  15. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

    Kortüm, F., Marquardt, I., Alawi, M., Korenke, G. C., Spranger, S., Meinecke, P. & Kutsche, K., 01.2017, In: PEDIATRICS. 139, 1, p. pii: e20160550

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

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

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

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

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

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

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

  18. The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature

    Bohnenpoll, J., Eichler, F. S., Schoen, G., Hischke, S., Denecke, J., Hempel, M., Kohlschütter, A. & Bley, A., 2017, In: NEUROPEDIATRICS. 48, S 01, p. 26 26 p.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  19. 2016

  20. Heterodimerization with the β1 subunit directs the α2 subunit of nitric oxide-sensitive guanylyl cyclase to calcium-insensitive cell-cell contacts in HEK293 cells: Interaction with Lin7a

    Hochheiser, J., Haase, T., Busker, M., Sömmer, A., Kreienkamp, H-J. & Behrends, S., 15.12.2016, In: BIOCHEM PHARMACOL. 122, p. 23-32 10 p.

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

  21. Response to Calgani et al

    Zenker, M. & Kutsche, K., 12.2016, In: GENET MED. 18, 12, p. 1321

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

  22. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

    Shukla, A., Hebbar, M., Harms, F. L., Kadavigere, R., Girisha, K. M. & Kutsche, K., 11.2016, In: AM J MED GENET A. 170, 11, p. 2998-3003

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

  23. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

    Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Undiagnosed Diseases Network, Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., 06.10.2016, In: AM J HUM GENET. 99, 4, p. 991-999 9 p.

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

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

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

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

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

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

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

  26. Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength

    Arons, M. H., Lee, K., Thynne, C. J., Kim, S. A., Schob, C., Kindler, S., Montgomery, J. M. & Garner, C. C., 31.08.2016, In: J NEUROSCI. 36, 35, p. 9124-34 11 p.

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

  27. Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon

    Dunkl, V., Rau, I., Wunderlich, G., Fink, G. R. & Lehmann, H. C., 15.08.2016, In: J NEUROL SCI. 367, p. 81-2 2 p.

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

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

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

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

  29. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

    Girisha, K. M., Kortüm, F., Shah, H., Alawi, M., Dalal, A., Bhavani, G. S. & Kutsche, K., 01.08.2016, In: EUR J HUM GENET. 24, 8, p. 1206-10

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

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

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

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

  31. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

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

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

  32. The transcriptomes of novel marmoset monkey embryonic stem cell lines reflect distinct genomic features

    Debowski, K., Drummer, C., Lentes, J., Cors, M., Dressel, R., Lingner, T., Salinas-Riester, G., Fuchs, S., Sasaki, E. & Behr, R., 07.07.2016, In: SCI REP-UK. 6, p. 29122

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

  33. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

    Vogel, M., Velleuer, E., Schmidt-Jiménez, L. F., Mayatepek, E., Borkhardt, A., Alawi, M., Kutsche, K. & Kortüm, F., 07.2016, In: AM J MED GENET A. 170, 7, p. 1813-9 7 p.

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

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

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

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

  35. Involvement of astrocyte and oligodendrocyte gene sets in migraine

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

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

  36. NEK1 mutations in familial amyotrophic lateral sclerosis

    Brenner, D., Müller, K., Wieland, T., Weydt, P., Böhm, S., Lulé, D., Hübers, A., Neuwirth, C., Weber, M., Borck, G., Wahlqvist, M., Danzer, K. M., Volk, A. E., Meitinger, T., Strom, T. M., Otto, M., Kassubek, J., Ludolph, A. C., Andersen, P. M. & Weishaupt, J. H., 01.05.2016, In: BRAIN. 139, Pt 5, p. e28

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

  37. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Kouz, K., Lissewski, C., Spranger, S., Mitter, D., Riess, A., Lopez-Gonzalez, V., Lüttgen, S., Aydin, H., von Deimling, F., Evers, C., Hahn, A., Hempel, M., Issa, U., Kahlert, A-K., Lieb, A., Villavicencio-Lorini, P., Ballesta-Martinez, M. J., Nampoothiri, S., Ovens-Raeder, A., Puchmajerová, A., Satanovskij, R., Seidel, H., Unkelbach, S., Zabel, B., Kutsche, K. & Zenker, M., 04.2016, In: GENET MED. 18, 12, p. 1226-1234

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

  38. Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD

    Feneberg, E., Steinacker, P., Volk, A. E., Weishaupt, J. H., Wollmer, M. A., Boxer, A., Tumani, H., Ludolph, A. C. & Otto, M., 01.03.2016, In: J NEURAL TRANSM. 123, 3, p. 289-96

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

  39. Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

    Rippe, M., De Backer, J., Kutsche, K., Mosquera, L. M., Schüler, H., Rybczynski, M., Bernhardt, A. M., Keyser, B., Hillebrand, M., Mir, T. S., Berger, J., Blankenberg, S., Koschyk, D. & von Kodolitsch, Y., 03.2016, In: IJC HEART VASC. 10, p. 39–46 8 p.

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

  40. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

    Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H. & Haack, T. B., 04.02.2016, In: AM J HUM GENET. 98, p. 358-362

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

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

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

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

  42. Severe learning deficits of IRSp53 mutant mice are caused by altered NMDA receptor dependent signal transduction

    Bobsin, K. & Kreienkamp, H-J., 27.01.2016, In: J NEUROCHEM. 136, 4, p. 752-763

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

  43. Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome

    Stark, V., Arndt, F., Harring, G., Keyser, B., von Kodolitsch, Y., Kozlik-Feldmann, R., Kutsche, K., Müller, G., Rybczynski, M. & Mir, T., 12.01.2016, In: J Integr Cardiol.

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

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

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

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

  45. Inositol-1,4,5-trisphosphate-3-kinase-A controls morphology of hippocampal dendritic spines

    Köster, J-D., Leggewie, B., Blechner, C., Brandt, N., Fester, L., Rune, G., Schweizer, M., Kindler, S. & Windhorst, S., 01.2016, In: CELL SIGNAL. 28, 1, p. 83-90 8 p.

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

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

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

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

  47. Neurofilaments levels as biomarkers in asymptomatic and symptomatic familial ALS

    Weydt, P., Oeckl, P., Huss, A., Müller, K., Volk, A. E., Kuhle, J., Knehr, A., Andersen, P. M., Prudlo, J., Steinacker, P., Weishaupt, J. H., Ludolph, A. C. & Otto, M., 01.2016, In: ANN NEUROL. 79, 1, p. 152-8

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

  48. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

    Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 2016, In: BMC MED GENET. 17, p. 27

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

  49. Sternumaplasie (Sternal Cleft).

    Gerling, J., Boettcher, M., Mietzsch, S., Pawlik, M., Klaassen, I. A., Hempel, M., Reinshagen, K. & Singer, D., 2016, In: Z GEBURTSH NEONATOL. 220, p. 269-270

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

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

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

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

  51. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

    von Kodolitsch, Y., Rybczynski, M., Vogler, M., Mir, T. S., Schüler, H., Kutsche, K., Rosenberger, G., Detter, C., Bernhardt, A. M., Larena-Avellaneda, A., Kölbel, T., Debus, E. S., Schroeder, M., Linke, S. J., Fuisting, B., Napp, B., Kammal, A. L., Püschel, K., Bannas, P., Hoffmann, B. A., Gessler, N., Vahle-Hinz, E., Kahl-Nieke, B., Thomalla, G., Weiler-Normann, C., Ohm, G., Neumann, S., Benninghoven, D., Blankenberg, S. & Pyeritz, R. E., 2016, In: J MULTIDISCIP HEALTH. 9, p. 587-614 28 p.

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

  52. Vererbung und Genetische Tests

    Kutsche, K., 2016, Das Marfan-Syndrom. M. H. D. E. V. (ed.). 1 ed. Springer, p. 47-56 10 p. 11

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Transfer

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