Research ExplorerResearch UnitsInstitute of Human Genetics Publications

Institute of Human Genetics

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Publications

  1. 2015

  2. Interfering with VE-PTP stabilizes endothelial junctions in vivo via Tie-2 in the absence of VE-cadherin

    Frye, M., Dierkes, M., Küppers, V., Vockel, M., Tomm, J., Zeuschner, D., Rossaint, J., Zarbock, A., Koh, G. Y., Peters, K., Nottebaum, A. F. & Vestweber, D., 14.12.2015, In: J EXP MED. 212, 13, p. 2267-87 21 p.

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

  3. A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

    Yilmaz, R., Beleza-Meireles, A., Price, S., Oliveira, R., Kubisch, C., Clayton-Smith, J., Szakszon, K. & Borck, G., 12.2015, In: AM J MED GENET A. 167, 12, p. 3006-3010

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

  4. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis

    Hedergott, A., Volk, A. E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J., Nürnberg, P., Kubisch, C. & Neugebauer, A., 12.2015, In: GRAEF ARCH CLIN EXP. 253, 12, p. 2239-2246

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

  5. Genome-wide significant association with seven novel multiple sclerosis risk loci

    Lill, C. M., Luessi, F., Alcina, A., Sokolova, E. A., Ugidos, N., de la Hera, B., Guillot-Noël, L., Malhotra, S., Reinthaler, E., Schjeide, B-M. M., Mescheriakova, J. Y., Mashychev, A., Wohlers, I., Akkad, D. A., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Astobiza, I., Blaschke, P., Boyko, A. N., Buttmann, M., Chan, A., Dörner, T., Epplen, J. T., Favorova, O. O., Fedetz, M., Fernández, O., García-Martínez, A., Gerdes, L-A., Graetz, C., Hartung, H-P., Hoffjan, S., Izquierdo, G., Korobko, D. S., Kroner, A., Kubisch, C., Kümpfel, T., Leyva, L., Lohse, P., Malkova, N. A., Montalban, X., Popova, E. V., Rieckmann, P., Rozhdestvenskii, A. S., Schmied, C., Smagina, I. V., Tsareva, E. Y., Winkelmann, A., Zettl, U. K., Binder, H., Cournu-Rebeix, I., Hintzen, R., Zimprich, A., Comabella, M., Fontaine, B., Urcelay, E., Vandenbroeck, K., Filipenko, M., Matesanz, F., Zipp, F. & Bertram, L., 12.2015, In: J MED GENET. 52, 12, p. 848-855

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

  6. De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

    Hübers, A., Just, W., Rosenbohm, A., Müller, K., Marroquin, N., Goebel, I., Högel, J., Thiele, H., Altmüller, J., Nürnberg, P., Weishaupt, J. H., Kubisch, C., Ludolph, A. C. & Volk, A. E., 11.2015, In: NEUROBIOL AGING. 36, 11, p. Art. 3117.e1

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

  7. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

    Lessel, D., Hisama, F. M., Szakszon, K., Saha, B., Sanjuanelo, A. B., Salbert, B. A., Steele, P. D., Baldwin, J., Brown, W. T., Piussan, C., Plauchu, H., Szilvássy, J., Horkay, E., Högel, J., Martin, G. M., Herr, A. J., Oshima, J. & Kubisch, C., 11.2015, In: HUM MUTAT. 36, 11, p. 1070-9 10 p.

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

  8. EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cells

    Struve, N., Riedel, M., Schulte, A., Rieckmann, T., Grob, T. J., Gal, A., Rothkamm, K., Lamszus, K., Petersen, C., Dikomey, E. & Kriegs, M., 20.10.2015, In: ONCOTARGET. 6, 32, p. 33867-77 11 p.

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

  9. Sharpin Controls Osteogenic Differentiation of Mesenchymal Bone Marrow Cells

    Jeschke, A., Catala-Lehnen, P., Sieber, S., Bickert, T., Schweizer, M., Koehne, T., Wintges, K., Marshall, R. P., Mautner, A., Duchstein, L., Otto, B., Horst, A. K., Amling, M., Kreienkamp, H-J. & Schinke, T., 15.10.2015, In: J IMMUNOL. 195, 8, p. 3675-84 10 p.

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

  10. Suppressor of cytokine signaling 1 gene mutation status as a prognostic biomarker in classical Hodgkin lymphoma

    Lennerz, J. K., Hoffmann, K., Bubolz, A-M., Lessel, D., Welke, C., Rüther, N., Viardot, A. & Möller, P., 06.10.2015, In: ONCOTARGET. 6, 30, p. 29097-110 14 p.

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

  11. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

    Kuechler, A., Altmüller, J., Nürnberg, P., Kotthoff, S., Kubisch, C. & Borck, G., 10.2015, In: MOL CELL PROBE. 29, 5, p. 330-334

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

  12. Next-generation sequencing in X-linked intellectual disability

    Tzschach, A., Grasshoff, U., Beck-Woedl, S., Dufke, C., Bauer, C., Kehrer, M., Evers, C., Moog, U., Oehl-Jaschkowitz, B., Di Donato, N., Maiwald, R., Jung, C., Kuechler, A., Schulz, S., Meinecke, P., Spranger, S., Kohlhase, J., Seidel, J., Reif, S., Rieger, M., Riess, A., Sturm, M., Bickmann, J., Schroeder, C., Dufke, A., Riess, O. & Bauer, P., 10.2015, In: EUR J HUM GENET. 23, 11, p. 1513-8 6 p.

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

  13. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    Hempel, M., Cremer, K., Ockeloen, C. W., Lichtenbelt, K. D., Herkert, J. C., Denecke, J., Haack, T. B., Zink, A. M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T. M., van Gassen, K. L. I., Kleefstra, T., Kubisch, C., Engels, H. & Lessel, D., 03.09.2015, In: AM J HUM GENET. 97, 3, p. 493-500 8 p.

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

  14. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

    Gripp, K. W., Sol-Church, K., Smpokou, P., Graham, G. E., Stevenson, D. A., Hanson, H., Viskochil, D. H., Baker, L. C., Russo, B., Gardner, N., Stabley, D. L., Kolbe, V. & Rosenberger, G., 09.2015, In: AM J MED GENET A. 167A, 9, p. 2085-97 13 p.

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

  15. Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

    von Kodolitsch, Y. & Kutsche, K., 09.2015, In: J HUM GENET. 60, 9, p. 465-466 2 p.

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

  16. Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting

    Fischer, A. G., Endrass, T., Goebel, I., Reuter, M., Montag, C., Kubisch, C. & Ullsperger, M., 01.08.2015, In: NEUROIMAGE. 116, p. 59-67 9 p.

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

  17. Structure-function-behavior relationship in estrogen-induced synaptic plasticity

    Vierk, R., Bayer, J., Freitag, S., Muhia, M., Kutsche, K., Wolbers, T., Kneussel, M., Sommer-Blöchl, T. & Rune, G. M., 08.2015, In: HORM BEHAV. 74, p. 139-48 10 p.

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

  18. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Kortüm, F., Caputo, V., Bauer, C. K., Stella, L., Ciolfi, A., Alawi, M., Bocchinfuso, G., Flex, E., Paolacci, S., Dentici, M. L., Grammatico, P., Korenke, G. C., Leuzzi, V., Mowat, D., Nair, L. D. V., Nguyen, T. T. M., Thierry, P., White, S. M., Dallapiccola, B., Pizzuti, A., Campeau, P. M., Tartaglia, M. & Kutsche, K., 01.06.2015, In: NAT GENET. 47, 6, p. 661-7 7 p.

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

  19. Serotonin reuptake inhibitors and serotonin transporter genotype modulate performance monitoring functions but not their electrophysiological correlates

    Fischer, A. G., Endrass, T., Reuter, M., Kubisch, C. & Ullsperger, M., 27.05.2015, In: J NEUROSCI. 35, 21, p. 8181-90 10 p.

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

  20. Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants

    Malik, R., Freilinger, T., Winsvold, B. S., Anttila, V., Vander Heiden, J., Traylor, M., de Vries, B., Holliday, E. G., Terwindt, G. M., Sturm, J., Bis, J. C., Hopewell, J. C., Ferrari, M. D., Rannikmae, K., Wessman, M., Kallela, M., Kubisch, C., Fornage, M., Meschia, J. F., Lehtimäki, T., Sudlow, C., Clarke, R., Chasman, D. I., Mitchell, B. D., Maguire, J., Kaprio, J., Farrall, M., Raitakari, O. T., Kurth, T., Ikram, M. A., Reiner, A. P., Longstreth, W. T., Rothwell, P. M., Strachan, D. P., Sharma, P., Seshadri, S., Quaye, L., Cherkas, L., Schürks, M., Rosand, J., Ligthart, L., Boncoraglio, G. B., Davey Smith, G., van Duijn, C. M., Stefansson, K., Worrall, B. B., Nyholt, D. R., Markus, H. S., van den Maagdenberg, A. M. J. M., Cotsapas, C., Zwart, J. A., Palotie, A., Dichgans, M. & International Headache Genetics Consortium, 26.05.2015, In: NEUROLOGY. 84, 21, p. 2132-45 14 p.

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

  21. Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies

    Nyholt, D. R., Anttila, V., Winsvold, B. S., Kurth, T., Stefansson, H., Kallela, M., Malik, R., Vries, B. D., Terwindt, G. M., Ikram, M. A., Stam, A. H., Ligthart, L., Freilinger, T., Alexander, M., Muller-Myhsok, B., Schreiber, S., Meitinger, T., Aromaa, A., Eriksson, J. G., Kaprio, J., Boomsma, D. I., Duijn, C. V., Raitakari, O., Järvelin, M-R., Zwart, J-A., Quaye, 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., Chasman, D. I. & Palotie, A., 05.2015, In: CEPHALALGIA. 35, 6, p. 489-99 11 p.

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

  22. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

    Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., Pinto, S., Press, R., Millecamps, S., Molko, N., Bernard, E., Desnuelle, C., Soriani, M-H., Dorst, J., Graf, E., Nordström, U., Feiler, M. S., Putz, S., Boeckers, T. M., Meyer, T., Winkler, A. S., Winkelman, J., de Carvalho, M., Thal, D. R., Otto, M., Brännström, T., Volk, A. E., Kursula, P., Danzer, K. M., Lichtner, P., Dikic, I., Meitinger, T., Ludolph, A. C., Strom, T. M., Andersen, P. M. & Weishaupt, J. H., 05.2015, In: NAT NEUROSCI. 18, 5, p. 631-636

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

  23. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

    Kratz, C. P., Franke, L., Peters, H., Kohlschmidt, N., Kazmierczak, B., Finckh, U., Bier, A., Eichhorn, B., Blank, C., Kraus, C., Kohlhase, J., Pauli, S., Wildhardt, G., Kutsche, K., Auber, B., Christmann, A., Bachmann, N., Mitter, D., Cremer, F. W., Mayer, K., Daumer-Haas, C., Nevinny-Stickel-Hinzpeter, C., Oeffner, F., Schlüter, G., Gencik, M., Überlacker, B., Lissewski, C., Schanze, I., Greene, M. H., Spix, C. & Zenker, M., 14.04.2015, In: BRIT J CANCER. 112, 8, p. 1392-7 6 p.

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

  24. Phenotypic and molecular insights into CASK-related disorders in males

    Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12.04.2015, In: ORPHANET J RARE DIS. 10, 1, p. 44

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

  25. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

    van Rahden, V. A., Fernandez-Vizarra, E., Alawi, M., Brand, K., Fellmann, F., Horn, D., Zeviani, M. & Kutsche, K., 02.04.2015, In: AM J HUM GENET. 96, 4, p. 640-50 11 p.

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

  26. Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrest

    Kriegs, M., Gurtner, K., Can, Y., Brammer, I., Rieckmann, T., Oertel, R., Wysocki, M., Dorniok, F., Gal, A., Grob, T. J., Laban, S., Kasten-Pisula, U., Petersen, C., Baumann, M., Krause, M. & Dikomey, E., 04.2015, In: RADIOTHER ONCOL. 115, 1, p. 120-7 8 p.

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

  27. Ocular signs correlate well with disease severity and genotype in Fabry disease

    Pitz, S., Kalkum, G., Arash, L., Karabul, N., Sodi, A., Larroque, S., Beck, M. & Gal, A., 17.03.2015, In: PLOS ONE. 10, 3, p. Art. e0120814

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

  28. The golgi-associated PDZ domain protein PIST/GOPC stabilizes the β1-adrenergic receptor in intracellular compartments after internalization

    Koliwer, J., Park, M., Bauch, C., von Zastrow, M. & Kreienkamp, H-J., 06.03.2015, In: J BIOL CHEM. 290, 10, p. 6120-9 10 p.

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

  29. A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

    Reiter, R., Brosch, S., Goebel, I., Ludwig, K. U., Pickhard, A., Högel, J., Schlömer, G., Mangold, E., Kubisch, C. & Borck, G., 03.2015, In: AM J MED GENET A. 167, 3, p. 670-3 4 p.

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

  30. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

    Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmüller, J., Reymond, A., Nürnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. & Kubisch, C., 02.2015, In: GENOME RES. 25, 2, p. 155-66 12 p.

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

  31. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

    Kakar, N., Ahmad, J., Morris-Rosendahl, D. J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W. B. & Borck, G., 01.2015, In: HUM GENET. 134, 1, p. 45-51 7 p.

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

  32. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

    Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G. & Kutsche, K., 2015, In: EUR J HUM GENET. 23, 2, p. 256-259

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

  33. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

    Ahting, U., Mayr, J. A., Vanlander, A. V., Hardy, S. A., Santra, S., Makowski, C., Alston, C. L., Zimmermann, F. A., Abela, L., Plecko, B., Rohrbach, M., Spranger, S., Seneca, S., Rolinski, B., Hagendorff, A., Hempel, M., Sperl, W., Meitinger, T., Smet, J., Taylor, R. W., Van Coster, R., Freisinger, P., Prokisch, H. & Haack, T. B., 2015, In: FRONT GENET. 6, p. 123

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

  34. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

    Thoenes, M., Zimmermann, U., Ebermann, I., Ptok, M., Lewis, M. A., Thiele, H., Morlot, S., Hess, M. M., Gal, A., Eisenberger, T., Bergmann, C., Nürnberg, G., Nürnberg, P., Steel, K. P., Knipper, M. & Bolz, H. J., 2015, In: ORPHANET J RARE DIS. 10, p. 15

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

  35. αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

    Kortüm, F., Harms, F. L., Hennighausen, N. & Rosenberger, G., 2015, In: PLOS ONE. 10, 7, p. e0132737

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

  36. 2014

  37. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

    Aulitzky, A., Friedrich, K., Gläser, D., Gastl, R., Kubisch, C., Ludolph, A. C. & Volk, A., 15.12.2014, In: J NEUROL SCI. 347, 1-2, p. 352-5 4 p.

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

  38. Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

    Sheikhzadeh, S., Brockstädt, L., Habermann, C. R., Sondermann, C., Bannas, P., Mir, T. S., Staebler, A., Seidel, H., Keyser, B., Arslan-Kirchner, M., Kutsche, K., Berger, J., Blankenberg, S. & Kodolitsch, Y., 01.12.2014, In: CLIN GENET. 86, 6, p. 545-551 7 p.

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

  39. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

    Müller, K., Andersen, P. M., Hübers, A., Marroquin, N., Volk, A. E., Danzer, K. M., Meitinger, T., Ludolph, A. C., Strom, T. M. & Weishaupt, J. H., 01.12.2014, In: BRAIN. 137, Pt 12, p. e309

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

  40. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

    Lessel, D., Vaz, B., Halder, S., Lockhart, P. J., Marinovic-Terzic, I., Lopez-Mosqueda, J., Philipp, M., Sim, J. C. H., Smith, K. R., Oehler, J., Cabrera, E., Freire, R., Pope, K., Nahid, A., Norris, F., Leventer, R. J., Delatycki, M. B., Barbi, G., von Ameln, S., Högel, J., Degoricija, M., Fertig, R., Burkhalter, M. D., Hofmann, K., Thiele, H., Altmüller, J., Nürnberg, G., Nürnberg, P., Bahlo, M., Martin, G. M., Aalfs, C. M., Oshima, J., Terzic, J., Amor, D. J., Dikic, I., Ramadan, K. & Kubisch, C., 01.11.2014, In: NAT GENET. 46, 11, p. 1239-44 6 p.

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

  41. RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR

    Brand, K., Kentsch, H., Glashoff, C. & Rosenberger, G., 01.11.2014, In: HUM MUTAT. 35, 11, p. 1372-81 10 p.

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

  42. Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes

    Hillebrand, M., Millot, N., Sheikhzadeh, S., Rybczynski, M., Gerth, S., Kölbel, T., Keyser, B., Kutsche, K., Robinson, P. N., Berger, J., Mir, T. S., Zeller, T., Blankenberg, S., Kodolitsch, Y. & Goldmann, B., 01.11.2014, In: CLIN CARDIOL. 37, 11, p. 672-679 8 p.

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

  43. Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits

    Utrobičić, I., Novak, I., Marinović-Terzić, I., Matić, K., Lessel, D., Salamunić, I., Babić, M. S., Kunac, N., Mešin, A. K., Kubisch, C., Maček, B. & Terzić, J., 01.09.2014, In: NEUROSURGERY. 75, 3, p. 276-85

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

  44. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome

    Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M. & Zenker, M., 09.2014, In: HUM MUTAT. 35, 9, p. 1092-100 9 p.

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

  45. Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

    Danda, S., van Rahden, V. A., John, D., Paul, P., Raju, R., Koshy, S. & Kutsche, K., 01.08.2014, In: MOL SYNDROMOL. 5, 5, p. 251-6 6 p.

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

  46. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

    Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G. C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G. & Kutsche, K., 12.06.2014, In: MED GENET-BERLIN. 26, p. 246-254

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

  47. Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

    Méneret, A., Depienne, C., Riant, F., Trouillard, O., Bouteiller, D., Cincotta, M., Bitoun, P., Wickert, J., Lagroua, I., Westenberger, A., Borgheresi, A., Doummar, D., Romano, M., Rossi, S., Defebvre, L., De Meirleir, L., Espay, A. J., Fiori, S., Klebe, S., Quélin, C., Rudnik-Schöneborn, S., Plessis, G., Dale, R. C., Sklower Brooks, S., Dziezyc, K., Pollak, P., Golmard, J-L., Vidailhet, M., Brice, A. & Roze, E., 03.06.2014, In: NEUROLOGY. 82, 22, p. 1999-2002 4 p.

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

  48. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

    Cobos, P. N., Steglich, C., Santer, R., Lukacs, Z. & Gal, A., 06.05.2014, In: JIMD reports.

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

  49. 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

  50. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

    Girisha, K. M., Abdollahpour, H., Shah, H., Bhavani, G. S., Graham, J. M., Boggula, V. R., Phadke, S. R. & Kutsche, K., 01.04.2014, In: AM J MED GENET A. 164A, 4, p. 1035-40 6 p.

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

  51. 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

  52. 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

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