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Bioinformatik Core

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Publications

  1. 2021

  2. Molecular characteristics and tumorigenicity of ascites-derived tumor cells: mitochondrial oxidative phosphorylation as a novel therapy target in ovarian cancer

    Ding, Y., Labitzky, V., Legler, K., Qi, M., Schumacher, U., Schmalfeldt, B., Stürken, C. & Oliveira-Ferrer, L., 12.2021, In: MOL ONCOL. 15, 12, p. 3578-3595 18 p.

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

  3. Vertically transferred maternal immune cells promote neonatal immunity against early life infections

    Stelzer, I., Urbschat, C., Schepanski, S., Thiele, K., Triviai, I., Wieczorek, A., Alawi, M., Ohnezeit, D., Kottlau, J., Huang, J., Fischer, N., Mittrücker, H-W., Solano, M. E., Fehse, B., Diemert, A., Stahl, F. & Arck, P., 04.08.2021, In: NAT COMMUN. 12, 1, p. 4706

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

  4. Hypoimmune induced pluripotent stem cell-derived cell therapeutics treat cardiovascular and pulmonary diseases in immunocompetent allogeneic mice

    Deuse, T., Tediashvili, G., Hu, X., Gravina, A., Tamenang, A., Wang, D., Connolly, A., Mueller, C., Mallavia, B., Looney, M. R., Alawi, M., Lanier, L. L. & Schrepfer, S., 13.07.2021, In: P NATL ACAD SCI USA. 118, 28, e2022091118.

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

  5. Genetic Variation and Cardiovascular Risk Factors: A Cohort Study on Migrants from the Former Soviet Union and a Native German Population

    Huebner, M., Börnigen, D., Deckert, A., Holle, R., Meisinger, C., Müller-Nurasyid, M., Peters, A., Rathmann, W. & Becher, H., 08.06.2021, In: INT J ENV RES PUB HE. 18, 12, p. 6214

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

  6. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

    Schneeberger, P. E., Nampoothiri, S., Holling, T., Yesodharan, D., Alawi, M., Knisely, A. S., Müller, T., Plecko, B., Janecke, A. R. & Kutsche, K., 26.05.2021, In: BRAIN. 2021, awab206

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

  7. Brahma-related gene 1 has time-specific roles during brain and eye development

    Holdhof, D., Schoof, M., Neyazi, S., Spohn, M., Kresbach, C., Göbel, C., Hellwig, M., Indenbirken, D., Moreno, N., Kerl, K. & Schüller, U., 21.05.2021, In: DEVELOPMENT. 148, 10, dev196147.

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

  8. Genome-wide interference of ZNF423 with B-lineage transcriptional circuitries in acute lymphoblastic leukemia

    Iglesias, P., Puller, A-C., Seoane, M., Spohn, M., Raasch, S., Klokow, M., Müller, J., Burkhardt, L., Indenbirken, D. & Horstmann, M. A., 09.03.2021, In: BLOOD ADV. 5, 5, p. 1209-1223 15 p.

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

  9. The SIRPα-CD47 immune checkpoint in NK cells

    Deuse, T., Hu, X., Agbor-Enoh, S., Jang, M. K., Alawi, M., Saygi, C., Gravina, A., Tediashvili, G., Nguyen, V. Q., Liu, Y., Valantine, H., Lanier, L. L. & Schrepfer, S., 01.03.2021, In: J EXP MED. 218, 3, e20200839.

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

  10. Distinct clonal lineages and within-host diversification shape invasive Staphylococcus epidermidis populations

    Both, A., Huang, J., Qi, M., Lausmann, C., Weißelberg, S., Büttner, H., Lezius, S., Failla, A. V., Christner, M., Stegger, M., Gehrke, T., Baig, S., Citak, M., Alawi, M., Aepfelbacher, M. & Rohde, H., 02.2021, In: PLOS PATHOG. 17, 2, p. e1009304

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

  11. Ependymoma relapse goes along with a relatively stable epigenome, but a severely altered tumor morphology

    Yang, D., Holsten, T., Börnigen, D., Frank, S., Mawrin, C., Glatzel, M. & Schüller, U., 01.2021, In: BRAIN PATHOL. 31, 1, p. 33-44 12 p.

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

  12. Deep (Meta)genomics and (Meta)transcriptome Analyses of Fungal and Bacteria Consortia From Aircraft Tanks and Kerosene Identify Key Genes in Fuel and Tank Corrosion

    Krohn, I., Bergmann, L., Qi, M., Indenbirken, D., Han, Y., Perez-Garcia, P., Katzowitsch, E., Hägele, B., Lübcke, T., Siry, C., Riemann, R., Alawi, M. & Streit, W. R., 2021, In: FRONT MICROBIOL. 12, 722259.

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

  13. 2020

  14. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

    Schneeberger, P. E., von Elsner, L., Barker, E. L., Meinecke, P., Marquardt, I., Alawi, M., Steindl, K., Joset, P., Rauch, A., Zwijnenburg, P. J. G., Weiss, M. M., Merry, C. L. R. & Kutsche, K., 03.12.2020, In: AM J HUM GENET. 107, 6, p. 1044-1061 18 p.

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

  15. Differential regulation of extracellular matrix proteins in three recurrent liver metastases of a single patient with colorectal cancer

    Voß, H., Wurlitzer, M., Smit, D. J., Ewald, F., Alawi, M., Spohn, M., Indenbirken, D., Omidi, M., David, K., Juhl, H., Simon, R., Sauter, G., Fischer, L., Izbicki, J. R., Molloy, M. P., Nashan, B., Schlüter, H. & Jücker, M., 12.2020, In: CLIN EXP METASTAS. 37, 6, p. 649-656 8 p.

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

  16. Hepatocellular carcinoma: Intratumoral EpCAM-positive cancer stem cell heterogeneity identifies high-risk tumor subtype

    Krause, J., von Felden, J., Casar, C., Fründt, T. W., Galaski, J., Schmidt, C., Jung, C., Ittrich, H., Weidemann, S. A., Krech, T., Heumann, A., Li, J., Fischer, L., Sauter, G., Lohse, A. W., Wege, H. & Schulze, K., 23.11.2020, In: BMC CANCER. 20, 1, p. 1130

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

  17. Deep amoA amplicon sequencing reveals community partitioning within ammonia-oxidizing bacteria in the environmentally dynamic estuary of the River Elbe

    Malinowski, M., Alawi, M., Krohn, I., Ruff, S., Indenbirken, D., Alawi, M., Karrasch, M., Lüschow, R., Streit, W. R., Timmermann, G. & Pommerening-Röser, A., 13.10.2020, In: SCI REP-UK. 10, 1, 17165.

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

  18. Glioma escape signature and clonal development under immune pressure

    Maire, C. L., Mohme, M., Bockmayr, M., Fita, K. D., Riecken, K., Börnigen, D., Alawi, M., Failla, A. V., Kolbe, K., Zapf, S., Holz, M., Neumann, K., Dührsen, L., Lange, T., Fehse, B., Westphal, M. & Lamszus, K., 01.10.2020, In: J CLIN INVEST. 130, 10, p. 5257-5271 15 p.

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

  19. 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

  20. 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

  21. Genomic characterization of vulvar squamous cell carcinoma

    Prieske, K., Alawi, M., Oliveira-Ferrer, L., Jaeger, A., Eylmann, K., Burandt, E., Schmalfeldt, B., Joosse, S. A. & Woelber, L., 09.2020, In: GYNECOL ONCOL. 158, 3, p. 547-554 8 p.

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

  22. 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

  23. High-resolution analysis of Merkel Cell Polyomavirus in Merkel Cell Carcinoma reveals distinct integration patterns and suggests NHEJ and MMBIR as underlying mechanisms

    Czech-Sioli, M., Günther, T., Therre, M., Spohn, M., Indenbirken, D., Theiss, J., Riethdorf, S., Qi, M., Alawi, M., Wülbeck, C., Fernandez-Cuesta, I., Esmek, F., Becker, J. C., Grundhoff, A. & Fischer, N., 08.2020, In: PLOS PATHOG. 16, 8, e1008562.

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

  24. Clonal Evolution after Allogeneic Hematopoietic Stem Cell Transplantation

    Christopeit, M., Badbaran, A., Alawi, M., Flach, J., Fehse, B. & Kröger, N., 07.2020, In: BIOL BLOOD MARROW TR. 26, 7, p. e167-e170

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

  25. Draft Genome Sequence of the Green Alga Scenedesmus acuminatus SAG 38.81

    Astafyeva, Y., Alawi, M., Indenbirken, D., Danso, D., Grundhoff, A., Hanelt, D., Streit, W. R. & Krohn, I., 11.06.2020, In: MICROBIOL RESOUR ANN. 9, 24, e01278-19.

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

  26. A prenatally disrupted airway epithelium orchestrates the fetal origin of asthma in mice

    Zazara-Giannou, D., Wegmann, M., Giannou, A. D., Hierweger, A. M., Alawi, M., Thiele, K., Huber, S., Pincus, M., Muntau, A. C., Solano, M. E. & Arck, P. C., 06.2020, In: J ALLERGY CLIN IMMUN. 145, 6, p. 1641-1654 14 p.

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

  27. Cellular Importin-α3 Expression Dynamics in the Lung Regulate Antiviral Response Pathways against Influenza A Virus Infection

    Thiele, S., Stanelle-Bertram, S., Beck, S., Kouassi, N. M., Zickler, M., Müller, M., Tuku, B., Resa-Infante, P., van Riel, D., Alawi, M., Günther, T., Rother, F., Hügel, S., Reimering, S., McHardy, A., Grundhoff, A., Brune, W., Osterhaus, A., Bader, M., Hartmann, E. & Gabriel, G., 21.04.2020, In: CELL REP. 31, 3, 107549.

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

  28. Molecular profiling of an osseous metastasis in glioblastoma during checkpoint inhibition: potential mechanisms of immune escape

    Mohme, M., Maire, C. L., Schliffke, S., Joosse, S. A., Alawi, M., Matschke, J., Schüller, U., Dierlamm, J., Martens, T., Pantel, K., Riethdorf, S., Lamszus, K. & Westphal, M., 09.03.2020, In: ACTA NEUROPATHOL COM. 8, 1, 28.

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

  29. The landscape of viral associations in human cancers

    Zapatka, M., Borozan, I., Brewer, D. S., Iskar, M., Grundhoff, A., Alawi, M., Desai, N., Sültmann, H., Moch, H., Cooper, C. S., Eils, R., Ferretti, V., Lichter, P. & PCAWG Pathogens, 03.2020, In: NAT GENET. 52, 3, p. 320-330 11 p.

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

  30. Extremophilic nitrite-oxidizing Chloroflexi from Yellowstone hot springs

    Spieck, E., Spohn, M., Wendt, K., Bock, E., Shively, J., Frank, J., Indenbirken, D., Alawi, M., Lücker, S. & Hüpeden, J., 02.2020, In: ISME J. 14, 2, p. 364-379 16 p.

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

  31. Pan-cancer analysis of whole genomes

    ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, 02.2020, In: NATURE. 578, 7793, p. 82-93 12 p.

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

  32. Case Report on Very Early Afterdepolarizations in HiPSC-Cardiomyocytes-An Artifact by Big Conductance Calcium Activated Potassium Current (Ibk,Ca)

    Horváth, A., Christ, T., Koivumäki, J. T., Prondzynski, M., Zech, A. T. L., Spohn, M., Saleem, U., Mannhardt, I., Ulmer, B., Girdauskas, E., Meyer, C., Hansen, A., Eschenhagen, T. & Lemoine, M. D., 20.01.2020, In: CELLS-BASEL. 9, 1

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

  33. 2019

  34. The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration

    Schoof, M., Launspach, M., Holdhof, D., Nguyen, L., Engel, V., Filser, S., Peters, F., Immenschuh, J., Hellwig, M., Niesen, J., Mall, V., Ertl-Wagner, B., Hagel, C., Spohn, M., Lutz, B., Sedlacik, J., Indenbirken, D., Merk, D. J. & Schüller, U., 05.12.2019, In: ACTA NEUROPATHOL COM. 7, 1, p. 199

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

  35. 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

  36. Characterization of novel, recurrent genomic rearrangements as sensitive MRD targets in childhood B-cell precursor ALL

    Zur Stadt, U., Alawi, M., Adao, M., Indenbirken, D., Escherich, G. & Horstmann, M. A., 29.11.2019, In: BLOOD CANCER J. 9, 12, p. 96

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

  37. DAMIAN an open source bioinformatics tool for fast, systematic and cohort based analysis of microorganisms in diagnostic samples

    Alawi, M., Burkhardt, L., Indenbirken, D., Reumann, K., Christopeit, M., Kröger, N., Lütgehetmann, M., Aepfelbacher, M., Fischer, N. & Grundhoff, A., 14.11.2019, In: SCI REP-UK. 9, 1, p. 16841

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

  38. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

    Karaca, E., Posey, J. E., Bostwick, B., Liu, P., Gezdirici, A., Yesil, G., Coban Akdemir, Z., Bayram, Y., Harms, F. L., Meinecke, P., Alawi, M., Bacino, C. A., Sutton, V. R., Kortüm, F. & Lupski, J. R., 10.2019, In: AM J MED GENET A. 179, 10, p. 2056-2066 11 p.

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

  39. De novo mutations in mitochondrial DNA of iPSCs produce immunogenic neoepitopes in mice and humans

    Deuse, T., Hu, X., Agbor-Enoh, S., Koch, M., Spitzer, M. H., Gravina, A., Alawi, M., Marishta, A., Peters, B., Kosaloglu-Yalcin, Z., Yang, Y., Rajalingam, R., Wang, D., Nashan, B., Kiefmann, R., Reichenspurner, H., Valantine, H., Weissman, I. L. & Schrepfer, S., 10.2019, In: NAT BIOTECHNOL. 37, 10, p. 1137-1144 8 p.

    Research output: SCORING: Contribution to journal › Letter › Research › peer-review

  40. Alternative interaction sites in the influenza A virus nucleoprotein mediate viral escape from the importin-α7 mediated nuclear import pathway

    Resa-Infante, P., Bonet, J., Thiele, S., Alawi, M., Stanelle-Bertram, S., Tuku, B., Beck, S., Oliva, B. & Gabriel, G., 09.2019, In: FEBS J. 286, 17, p. 3374-3388 15 p.

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

  41. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

    Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.

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

  42. Lineage-specific control of TFIIH by MITF determines transcriptional homeostasis and DNA repair

    Seoane, M., Buhs, S., Iglesias, P., Strauss, J., Puller, A-C., Müller, J., Gerull, H., Feldhaus, S., Alawi, M., Brandner, J. M., Eggert, D., Du, J., Thomale, J., Wild, P. J., Zimmermann, M., Sternsdorf, T., Schumacher, U., Nollau, P., Fisher, D. E. & Horstmann, M. A., 05.2019, In: ONCOGENE. 38, 19, p. 3616-3635 20 p.

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

  43. TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma

    Hellwig, M., Lauffer, M. C., Bockmayr, M., Spohn, M., Merk, D. J., Harrison, L., Ahlfeld, J., Kitowski, A., Neumann, J. E., Ohli, J., Holdhof, D., Niesen, J., Schoof, M., Kool, M., Kraus, C., Zweier, C., Holmberg, D. & Schüller, U., 04.2019, In: ACTA NEUROPATHOL. 137, 4, p. 657-673 17 p.

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

  44. T-lymphocyte-specific knockout of IKK-2 or NEMO induces T17 cells in an experimental nephrotoxic nephritis mouse model

    Guo, L., Huang, J., Chen, M., Piotrowski, E., Song, N., Zahner, G., Paust, H-J., Alawi, M., Geffers, R. & Thaiss, F., 02.2019, In: FASEB J. 33, 2, p. 2359-2371 13 p.

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

  45. TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease

    Neelagandan, N., Gonnella, G., Dang, S., Janiesch, P. C., Miller, K. K., Küchler, K., Marques, R. F., Indenbirken, D., Alawi, M., Grundhoff, A., Kurtz, S. & Duncan, K. E., 10.01.2019, In: NUCLEIC ACIDS RES. 47, 1, p. 341-361 21 p.

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

  46. High-Throughput Immunogenetics Reveals a Lack of Physiological T Cell Clusters in Patients With Autoimmune Cytopenias

    Simnica, D., Schliffke, S., Schultheiß, C., Bonzanni, N., Fanchi, L. F., Akyüz, N., Gösch, B., Casar, C., Thiele, B., Schlüter, J., Lohse, A. W. & Binder, M., 2019, In: FRONT IMMUNOL. 10, p. 1897

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

  47. 2018

  48. Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body

    Harms, F. L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V. V., Alawi, M., Altmüller, J., Yesodharan, D. & Kutsche, K., 11.2018, In: BRIT J DERMATOL. 179, 5, p. 1192-1194 3 p.

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

  49. Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

    Piard, J., Essien Umanah, G. K., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.06.2018, In: BRAIN. 141, 6, p. e50

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

  50. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

    Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., 05.2018, In: EUR J HUM GENET. 26, 5, p. 695-708 14 p.

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

  51. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    Piard, J., Umanah, G. K. E., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.03.2018, In: BRAIN. 141, 3, p. 651-661 11 p.

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

  52. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11

    Harms, F. L., Nampoothiri, S., Anazi, S., Yesodharan, D., Alawi, M., Kutsche, K. & Alkuraya, F. S., 02.2018, In: AM J MED GENET A. 176, 2, p. 477-482 6 p.

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

  53. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

    Harms, F. L., Alawi, M., Amor, D. J., Tan, T. Y., Cuturilo, G., Lissewski, C., Brinkmann, J., Schanze, D., Kutsche, K. & Zenker, M., 02.2018, In: AM J MED GENET A. 176, 2, p. 470-476 7 p.

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

  54. 2017

  55. Alterations in oral bacterial communities are associated with risk factors for oral and oropharyngeal cancer

    Börnigen, D., Ren, B., Pickard, R., Li, J., Ozer, E., Hartmann, E. M., Xiao, W., Tickle, T., Rider, J., Gevers, D., Franzosa, E. A., Davey, M. E., Gillison, M. L. & Huttenhower, C., 15.12.2017, In: SCI REP-UK. 7, 1, p. 17686

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

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