Research ExplorerResearch UnitsInstitute of Human Genetics Publications

Institute of Human Genetics

151 - 200 out of 688Page size: 50

Publications

  1. 2020

  2. Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

    Kloth, K., Vater, I., Lindschau, R., Rau, I., Caliebe, A. & Muschol, N. M., 12.2020, In: MOL GENET METAB REP. 25, 100660.

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

  3. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

    Marten, L. M., Brinkert, F., Smith, D. E. C., Prokisch, H., Hempel, M. & Santer, R., 12.2020, In: MOL GENET METAB REP. 25, p. 100681

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

  4. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

    Hecher, L., Johannsen, J., Bierhals, T., Buhk, J-H., Hempel, M. & Denecke, J., 12.2020, In: NEUROPEDIATRICS. 51, 6, p. 435-439 5 p.

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

  5. Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16.11.2020, In: NAT COMMUN. 11, 1, p. 5797

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

  6. The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor

    Brandão, A., Paulo, P., Maia, S., Pinheiro, M., Peixoto, A., Cardoso, M., Silva, M. P., Santos, C., Eeles, R. A., Kote-Jarai, Z., Muir, K., Ukgpcs Collaborators, Schleutker, J., Wang, Y., Pashayan, N., Batra, J., Apcb BioResource, Grönberg, H., Neal, D. E., Nordestgaard, B. G., Tangen, C. M., Southey, M. C., Wolk, A., Albanes, D., Haiman, C. A., Travis, R. C., Stanford, J. L., Mucci, L. A., West, C. M. L., Nielsen, S. F., Kibel, A. S., Cussenot, O., Berndt, S. I., Koutros, S., Sørensen, K. D., Cybulski, C., Grindedal, E. M., Park, J. Y., Ingles, S. A., Maier, C., Hamilton, R. J., Rosenstein, B. S., Vega, A., The Impact Study Steering Committee And Collaborators, Kogevinas, M., Wiklund, F., Penney, K. L., Brenner, H., John, E. M., Kaneva, R., Logothetis, C. J., Neuhausen, S. L., Ruyck, K. D., Razack, A., Newcomb, L. F., Canary Pass Investigators, Lessel, D., Usmani, N., Claessens, F., Gago-Dominguez, M., Townsend, P. A., Roobol, M. J., The Profile Study Steering Committee, The Practical Consortium & Teixeira, M. R., 04.11.2020, In: CANCERS. 12, 11

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

  7. Brown adipose tissue lipoprotein and glucose disposal is not determined by thermogenesis in uncoupling protein 1-deficient mice

    Fischer, A. W., Behrens, J., Sass, F., Schlein, C., Heine, M., Pertzborn, P., Scheja, L. & Heeren, J., 11.2020, In: J LIPID RES. 61, 11, p. 1377-1389 13 p.

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

  8. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

    Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Arboleda, V. A., Newbury-Ecob, R. & DDD Study, 11.2020, In: GENET MED. 22, 11, p. 1920

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

  9. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

    Schneeberger, P. E., Nayak, S. S., Fuchs, S., Kutsche, K. & Girisha, K. M., 11.2020, In: AM J MED GENET A. 182, 11, p. 2793-2796 4 p.

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

  10. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

    Gripp, K. W., Baker, L., Robbins, K. M., Stabley, D. L., Bellus, G. A., Kolbe, V., Nauth, T. & Rosenberger, G., 11.2020, In: EUR J HUM GENET. 28, 11, p. 1548-1554 7 p.

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

  11. Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling

    Hassani Nia, F., Woike, D., Kloth, K., Kortüm, F. & Kreienkamp, H-J., 11.2020, In: J NEUROCHEM. 155, 3, p. 250-263 14 p.

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

  12. Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus

    Hassani Nia, F., Woike, D., Martens, V., Klüssendorf, M., Hönck, H-H., Harder, S. & Kreienkamp, H-J., 28.10.2020, In: MOL AUTISM. 11, 1, p. 85

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

  13. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 10.2020, In: EUR J HUM GENET. 28, 10, p. 1422-1431 10 p.

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

  14. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

    Eggermann, T., Kraft, F., Kloth, K., Klopocki, E., Hüning, I., Hempel, M. & Kunstmann, E., 10.2020, In: CLIN GENET. 98, 4, p. 418-419 2 p.

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

  15. The H-Y Antigen in Embryonic Stem Cells Causes Rejection in Syngeneic Female Recipients

    Hu, X., Kueppers, S. T., Kooreman, N. G., Gravina, A., Wang, D., Tediashvili, G., Schlickeiser, S., Frentsch, M., Nikolaou, C., Thiel, A., Marcus, S., Fuchs, S., Velden, J., Reichenspurner, H., Volk, H-D., Deuse, T. & Schrepfer, S., 15.09.2020, In: STEM CELLS DEV. 29, 18, p. 1179-1189 11 p.

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

  16. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    Elouej, S., Harhouri, K., Le Mao, M., Baujat, G., Nampoothiri, S., Kayserili, H., Menabawy, N. A., Selim, L., Paneque, A. L., Kubisch, C., Lessel, D., Rubinsztajn, R., Charar, C., Bartoli, C., Airault, C., Deleuze, J-F., Rötig, A., Bauer, P., Pereira, C., Loh, A., Escande-Beillard, N., Muchir, A., Martino, L., Gruenbaum, Y., Lee, S-H., Manivet, P., Lenaers, G., Reversade, B., Lévy, N. & De Sandre-Giovannoli, A., 11.09.2020, In: NAT COMMUN. 11, 1, p. 4589

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

  17. Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

    Harms, F. L., Parthasarathy, P., Zorndt, D., Alawi, M., Fuchs, S., Halliday, B. J., McKeown, C., Sampaio, H., Radhakrishnan, N., Radhakrishnan, S. K., Gorce, M., Navet, B., Ziegler, A., Sachdev, R., Robertson, S. P., Nampoothiri, S. & Kutsche, K., 09.2020, In: HUM MUTAT. 41, 9, p. 1645-1661 17 p.

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

  18. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

    Kortüm, F., Niceta, M., Magliozzi, M., Kubat, K. D., Robertson, S. P., Moresco, A., Dentici, M. L., Baban, A., Leoni, C., Onesimo, R., Obregon, M. G., Digilio, M. C., Zampino, G., Novelli, A., Tartaglia, M. & Kutsche, K., 09.2020, In: EUR J MED GENET. 63, 9, p. 103996

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

  19. Characterization of agonist-dependent somatostatin receptor subtype 2 trafficking in neuroendocrine cells

    Alshafie, W., Pan, Y. E., Kreienkamp, H-J. & Stroh, T., 09.2020, In: ENDOCRINE. 69, 3, p. 655-669 15 p.

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

  20. Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46

    Kloth-Stachnau, K., Cozma, C., Bester, M., Gerloff, C., Biskup, S. & Zittel, S., 09.2020, In: EUR J MED GENET. 63, 9, p. 103992

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

  21. Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

    Sauvigny, T., Alawi, M., Krause, L., Renner, S., Spohn, M., Busch, A., Kolbe, V., Altmüller, J., Löscher, B-S., Franke, A., Brockmann, C., Lieb, W., Westphal, M., Schmidt, N. O., Regelsberger, J. & Rosenberger, G., 09.2020, In: J NEUROL. 267, 9, p. 2533-2545 13 p.

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

  22. Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature

    Rohdenburg, C., Liersch, J., Kutsche, K. & Schaller, J., 09.2020, In: AM J DERMATOPATH. 42, 9, p. 653-661 9 p.

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

  23. Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

    Sismani, C., Rapti, S-M., Iliopoulou, P., Spring, A., Neroutsou, R., Lagou, M., Robola, M., Tsitsopoulos, E., Kousoulidou, L., Alexandrou, A., Papaevripidou, I., Theodosiou, A., Syrrou, M., Fuchs, S., Hempel, M., Huhle, D., Liehr, T., Ziegler, M., Duesberg, M. & Velissariou, V., 09.2020, In: J HUM GENET. 65, 9, p. 783-795 13 p.

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

  24. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.

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

  25. Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

    Stark, V. C., Hensen, F., Kutsche, K., Kortüm, F., Olfe, J., Wiegand, P., von Kodolitsch, Y., Kozlik-Feldmann, R., Müller, G. C. & Mir, T. S., 15.07.2020, In: GENES-BASEL. 11, 7, p. 1-15 799.

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

  26. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

    Wang, H., Humbatova, A., Liu, Y., Qin, W., Lee, M., Cesarato, N., Kortüm, F., Kumar, S., Romano, M. T., Dai, S., Mo, R., Sivalingam, S., Motameny, S., Wu, Y., Wang, X., Niu, X., Geng, S., Bornholdt, D., Kroisel, P. M., Tadini, G., Walter, S. D., Hauck, F., Girisha, K. M., Calza, A-M., Bottani, A., Altmüller, J., Buness, A., Yang, S., Sun, X., Ma, L., Kutsche, K., Grzeschik, K-H., Betz, R. C. & Lin, Z., 02.07.2020, In: AM J HUM GENET. 107, 1, p. 34-45 12 p.

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

  27. Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

    Chateau, A., Kutsche, K., Fuchs, S., Harms, F., Kruse, C-H. & Mosam, A., 07.2020, In: INT J DERMATOL. 59, 7, p. 864-866 3 p.

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

  28. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Castilla-Vallmanya, L., Selmer, K. K., Dimartino, C., Rabionet, R., Blanco-Sánchez, B., Yang, S., Reijnders, M. R. F., van Essen, A. J., Oufadem, M., Vigeland, M. D., Stadheim, B., Houge, G., Cox, H., Kingston, H., Clayton-Smith, J., Innis, J. W., Iascone, M., Cereda, A., Gabbiadini, S., Chung, W. K., Sanders, V., Charrow, J., Bryant, E., Millichap, J., Vitobello, A., Thauvin, C., Mau-Them, F. T., Faivre, L., Lesca, G., Labalme, A., Rougeot, C., Chatron, N., Sanlaville, D., Christensen, K. M., Kirby, A., Lewandowski, R., Gannaway, R., Aly, M., Lehman, A., Clarke, L., Graul-Neumann, L., Zweier, C., Lessel, D., Lozic, B., Aukrust, I., Peretz, R., Stratton, R., Smol, T., Dieux-Coëslier, A., Meira, J., Wohler, E., Sobreira, N., Beaver, E. M., Heeley, J., Briere, L. C., High, F. A., Sweetser, D. A., Walker, M. A., Keegan, C. E., Jayakar, P., Shinawi, M., Kerstjens-Frederikse, W. S., Earl, D. L., Siu, V. M., Reesor, E., Yao, T., Hegele, R. A., Vaske, O. M., Rego, S., Shapiro, K. A., Wong, B., Gambello, M. J., McDonald, M., Karlowicz, D., Colombo, R., Serretti, A., Pais, L., O'Donnell-Luria, A., Wray, A., Sadedin, S., Chong, B., Tan, T. Y., Christodoulou, J., White, S. M., Slavotinek, A., Barbouth, D., Morel Swols, D., Parisot, M., Bole-Feysot, C., Nitschké, P., Pingault, V., Munnich, A., Cho, M. T., Cormier-Daire, V., Balcells, S., Lyonnet, S., Grinberg, D., Amiel, J., Urreizti, R., Gordon, C. T. & Undiagnosed Diseases Network, Care4Rare Canada Consortium, 07.2020, In: GENET MED. 22, 7, p. 1215-1226 12 p.

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

  29. Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

    Weil, D., Piton, A., Lessel, D. & Standart, N., 30.06.2020, In: BIOCHEM SOC T. 48, 3, p. 1199-1211 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  30. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Wagner, M., Lévy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Bergès, M., Kitajima, J. P., Kim, C. A., Salomao, J. G., Amor, D. J., Cooper, M. S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E. G., Toosi, M. B., Houlden, H., Jin, S. C., Si, Y. C., Rodan, L. H., Venselaar, H., Kruer, M. C., Kok, F., Hoffmann, G. F., Strom, T. M., Wortmann, S. B., Tabet, A-C. & Opladen, T., 06.2020, In: GENET MED. 22, 6, p. 1061-1068 8 p.

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

  31. Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

    Niemeyer, E., Mofid, H., Zornig, C., Burandt, E-C., Stein, A., Block, A. & Volk, A. E., 03.05.2020, In: BMC GASTROENTEROL. 20, 1, p. 129

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

  32. Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

    Barschke, P., Öckl, P., Steinacker, P., Al Shweiki, M. R., Weishaupt, J. H., Landwehrmeyer, G. B., Anderl-Straub, S., Weydt, P., Diehl-Schmid, J., Danek, A., Kornhuber, J., Schroeter, M. L., Prudlo, J., Jahn, H., Fassbender, K., Lauer, M., van der Ende, E. L., van Swieten, J. C., Volk, A. E., Ludolph, A. C., Otto, M. & German FTLD Consortium, 05.2020, In: J NEUROL NEUROSUR PS. 91, 5, p. 503-511 9 p.

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

  33. Nine newly identified individuals refine the phenotype associated with MYT1L mutations

    Windheuser, I. C., Becker, J., Cremer, K., Hundertmark, H., Yates, L. M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K. U., Zink, A. M., Lessel, D., Bierhals, T., Herget, T., Johannsen, J., Denecke, J., Wohlleber, E., Strom, T. M., Wieczorek, D., Bertoli, M., Colombo, R., Hempel, M. & Engels, H., 05.2020, In: AM J MED GENET A. 182, 5, p. 1021-1031 11 p.

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

  34. Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

    Xu, L., Harms, F. L., Chirasani, V. R., Pasek, D. A., Kortüm, F., Meinecke, P., Dokholyan, N. V., Kutsche, K. & Meissner, G., 05.2020, In: CELL CALCIUM. 87, p. 102182

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

  35. POLR3A variants with striatal involvement and extrapyramidal movement disorder

    Harting, I., Al-Saady, M., Krägeloh-Mann, I., Bley, A., Hempel, M., Bierhals, T., Karch, S., Moog, U., Bernard, G., Huntsman, R., van Spaendonk, R. M. L., Vreeburg, M., Rodríguez-Palmero, A., Pujol, A., van der Knaap, M. S., Pouwels, P. J. W. & Wolf, N. I., 04.2020, In: NEUROGENETICS. 21, 2, p. 121-133 13 p.

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

  36. Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

    Lessel, I., Chen, M-J., Lüttgen, S., Arndt, F., Fuchs, S., Meien, S., Thiele, H., Jones, J. R., Shaw, B. R., Crossman, D. K., Nürnberg, P., Korf, B. R., Kubisch, C. & Lessel, D., 04.2020, In: HUM GENET. 139, 4, p. 483-498 16 p.

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

  37. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

    Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E. & Kutsche, K., 03.2020, In: PLOS GENET. 16, 3, p. e1008625

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

  38. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

    Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., 03.2020, In: GENET MED. 22, 3, p. 610-621 12 p.

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

  39. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

    Yilmaz, R., Müller, K., Brenner, D., Volk, A. E., Borck, G., Hermann, A., Meitinger, T., Strom, T. M., Danzer, K. M., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 03.2020, In: NEUROBIOL AGING. 87, p. 139.e9-139.e15

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

  40. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

    Moore, K. M., Nicholas, J., Grossman, M., McMillan, C. T., Irwin, D. J., Massimo, L., Van Deerlin, V. M., Warren, J. D., Fox, N. C., Rossor, M. N., Mead, S., Bocchetta, M., Boeve, B. F., Knopman, D. S., Graff-Radford, N. R., Forsberg, L. K., Rademakers, R., Wszolek, Z. K., van Swieten, J. C., Jiskoot, L. C., Meeter, L. H., Dopper, E. G., Papma, J. M., Snowden, J. S., Saxon, J., Jones, M., Pickering-Brown, S., Le Ber, I., Camuzat, A., Brice, A., Caroppo, P., Ghidoni, R., Pievani, M., Benussi, L., Binetti, G., Dickerson, B. C., Lucente, D., Krivensky, S., Graff, C., Öijerstedt, L., Fallström, M., Thonberg, H., Ghoshal, N., Morris, J. C., Borroni, B., Benussi, A., Padovani, A., Galimberti, D., Scarpini, E., Fumagalli, G. G., Mackenzie, I. R., Hsiung, G-Y. R., Sengdy, P., Boxer, A. L., Rosen, H., Taylor, J. B., Synofzik, M., Wilke, C., Sulzer, P., Hodges, J. R., Halliday, G., Kwok, J., Sanchez-Valle, R., Lladó, A., Borrego-Ecija, S., Santana, I., Almeida, M. R., Tábuas-Pereira, M., Moreno, F., Barandiaran, M., Indakoetxea, B., Levin, J., Danek, A., Rowe, J. B., Cope, T. E., Otto, M., Anderl-Straub, S., de Mendonça, A., Maruta, C., Masellis, M., Black, S. E., Couratier, P., Lautrette, G., Huey, E. D., Sorbi, S., Nacmias, B., Laforce, R., Tremblay, M-P. L., Vandenberghe, R., Damme, P. V., Rogalski, E. J., Weintraub, S., Gerhard, A., Onyike, C. U., Ducharme, S., Papageorgiou, S. G., Lyn, A. S., Brodtmann, A., Finger, E., Guerreiro, R., Bras, J., Rohrer, J. D. & FTD Prevention Initiative, 02.2020, In: LANCET NEUROL. 19, 2, p. 145-156 12 p.

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

  41. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

    Chelban, V., Alsagob, M., Kloth, K., Chirita-Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al-Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H. & Kaya, N., 02.2020, In: EUR J NEUROL. 27, 2, p. 334-342 9 p.

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

  42. Rationale and Design of the Hamburg City Health Study

    Jagodzinski, A. D., Johansen, C., Koch-Gromus, U., Aarabi, G., Adam, G., Anders, S., Augustin, M., der Kellen, R. B., Beikler, T., Behrendt, C-A., Betz, C. S., Bokemeyer, C., Borof, K., Briken, P., Busch, C-J., Büchel, C., Brassen, S., Debus, E. S., Eggers, L., Fiehler, J., Gallinat, J., Gellißen, S., Gerloff, C., Girdauskas, E., Gosau, M., Graefen, M., Härter, M., Harth, V., Heidemann, C., Heydecke, G., Huber, T., Hussein, Y., Kampf, M. O., von dem Knesebeck, O., Konnopka, A., König, H-H., Kromer, R., Kubisch, C., Kühn, S., Loges, S., Löwe, B., Lund, G., Meyer, C., Nagel, L., Nienhaus, A., Pantel, K., Petersen, E., Püschel, K., Reichenspurner, H., Sauter, G., Scherer, M., Scherschel, K., Schiffner, U., Schnabel, R. B., Schulz, H., Smeets, R., Sokalskis, V., Spitzer, M., Terschüren, C., Thederan, I., Thoma, T., Thomalla, G., Waschki, B., Wegscheider, K., Wenzel, J-P., Wiese, S., Zyriax, B-C., Zeller, T. & Blankenberg, S., 02.2020, In: EUR J EPIDEMIOL. 35, 2, p. 169-181 13 p.

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

  43. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    Mak, C. C. Y., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., Dimartino, C., Weisfeld-Adams, J. D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y. A., Ehmke, N., Horn, D., Troyer, C., Kant, S. G., Lee, Y., Ishak, G. E., Leung, G., Barone Pritchard, A., Yang, S., Bend, E. G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M. G., Martin, P-M., Apple, B., Millan, F., Puk, O., Hoffer, M. J. V., Henderson, L. B., McGowan, R., Wentzensen, I. M., Pei, S., Zahir, F. R., Yu, M., Gibson, W. T., Seman, A., Steeves, M., Murrell, J. R., Luettgen, S., Francisco, E., Strom, T. M., Amlie-Wolf, L., Kaindl, A. M., Wilson, W. G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L. E. L. M., Radtke, K., Chelly, J., Zackai, E., Friedman, J. M., Bamshad, M. J., Nickerson, D. A., University of Washington Center for Mendelian Genomics, Reid, R. R., Devriendt, K., Chae, J-H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T. Y., Orenstein, N., Dobyns, W. B., Shieh, J. T., Choi, M., Waggoner, D., Gripp, K. W., Parker, M. J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T. L., Amiel, J., Chung, B. H. Y. & Gordon, C. T., 01.01.2020, In: BRAIN. 143, 1, p. 55-68 14 p.

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

  44. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2

    Karsak, M., Glebov, K., Scheffold, M., Bajaj, T., Kawalia, A., Karaca, I., Rading, S., Kornhuber, J., Peters, O., Diez-Fairen, M., Frölich, L., Hüll, M., Wiltfang, J., Scherer, M., Riedel-Heller, S., Schneider, A., Heneka, M. T., Fliessbach, K., Sharaf, A., Thiele, H., Lennarz, M., Jessen, F., Maier, W., Kubisch, C., Ignatova, Z., Nürnberg, P., Pastor, P., Walter, J. & Ramirez, A., 01.2020, In: HUM MUTAT. 41, 1, p. 169-181 13 p.

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

  45. Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

    Danyukova, T., Ludwig, N. F., Velho, R. V., Harms, F. L., Güneş, N., Tidow, H., Schwartz, I. V., Tüysüz, B. & Pohl, S., 01.2020, In: HUM MUTAT. 41, 1, p. 133-139 7 p.

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

  46. Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

    Weiss, D., Kortüm, F., Driemeyer, J. & Kloth, K., 2020, In: MONATSSCHR KINDERH.

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

  47. Thermoneutrality-Induced Macrophage Accumulation in Brown Adipose Tissue Does Not Impair the Tissue's Competence for Cold-Induced Thermogenic Recruitment

    Fischer, A. W., de Jong, J. M. A., Sass, F., Schlein, C., Heeren, J. & Petrovic, N., 2020, In: FRONT ENDOCRINOL. 11, p. 568682

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

  48. 2019

  49. Hypophosphatasie - eine klinisch und genetisch variable Erkrankung

    Jandl, N. M., Volk, A. E. & Barvencik, F., 12.12.2019, In: MED GENET-BERLIN. 2019, 31, p. 364-371 31.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  50. Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

    Brenner, D., Rosenbohm, A., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.12.2019, In: BRAIN. 142, 12, p. e67

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

  51. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

    Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., Merkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., 12.2019, In: NEUROL-GENET. 5, 6, p. e373

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

  52. Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

    Prondzynski, M., Lemoine, M. D., Zech, A. T. L., Horvath, A., Di Mauro, V., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., Schlossarek, S., Spohn, M., Friedrich, F., Münch, J., Laufer, S., Redwood, C., Volk, A. E., Hansen, A., Mearini, G., Catalucci, D., Meyer, C., Christ, T., Patten, M., Eschenhagen, T. & Carrier, L., 12.2019, In: EMBO MOL MED. 11, 12, e11115.

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

Previous 1 2 3 4 5 6 7 8 ...14 Next