Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2017

  2. Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

    Johannsen, J., Hempel, M., Diehl, T., Haack, T. B. & Denecke, J., 10.2017, In: PEDIATR NEONATOL. 58, 5, p. 458-459

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

  3. Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

    Trautmann, A., Schnaidt, S., Lipska-Ziętkiewicz, B. S., Bodria, M., Ozaltin, F., Emma, F., Anarat, A., Melk, A., Azocar, M., Oh, J., Saeed, B., Gheisari, A., Caliskan, S., Gellermann, J., Higuita, L. M. S., Jankauskiene, A., Drozdz, D., Mir, S., Balat, A., Szczepanska, M., Paripovic, D., Zurowska, A., Bogdanovic, R., Yilmaz, A., Ranchin, B., Baskin, E., Erdogan, O., Remuzzi, G., Firszt-Adamczyk, A., Kuzma-Mroczkowska, E., Litwin, M., Murer, L., Tkaczyk, M., Jardim, H., Wasilewska, A., Printza, N., Fidan, K., Simkova, E., Borzecka, H., Staude, H., Hees, K., Schaefer, F. & PodoNet Consortium, 10.2017, In: J AM SOC NEPHROL. 28, 10, p. 3055-3065

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

  4. Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey

    Gramer, G., Gramer, E. & Weisschuh, N., 10.2017, In: J GLAUCOMA. 26, 10, p. 940-946 7 p.

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

  5. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

    Rolvien, T., Butscheidt, S., Jeschke, A., Neu, A., Denecke, J., Kubisch, C., Meisler, M. H., Püschel, K., Barvencik, F., Yorgan, T., Oheim, R., Schinke, T. & Amling, M., 10.2017, In: BONE. 103, p. 136-143

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

  6. Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy

    Godel, T., Bäumer, P., Pham, M., Köhn, A., Muschol, N., Kronlage, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 19.09.2017, In: NEUROLOGY. 89, 12, p. 1274-1282 9 p.

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

  7. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 01.09.2017, In: BRAIN. 140, 9, p. 2322-2336 15 p.

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

  8. Early-life exposure to caffeine affects the construction and activity of cortical networks in mice

    Fazeli, W., Zappettini, S., Marguet, S. L., Grendel, J., Esclapez, M., Bernard, C. & Isbrandt, D., 09.2017, In: EXP NEUROL. 295, p. 88-103 16 p.

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

  9. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

    Kloth, K., Denecke, J., Hempel, M., Johannsen, J., Strom, T. M., Kubisch, C. & Lessel, D., 09.2017, In: EUR J MED GENET. 60, 9, p. 494-498

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

  10. History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium

    Minlikeeva, A. N., Freudenheim, J. L., Eng, K. H., Cannioto, R. A., Friel, G., Szender, J. B., Segal, B., Odunsi, K., Mayor, P., Diergaarde, B., Zsiros, E. Z., Kelemen, L. E., Köbel, M., Steed, H., deFazio, A., Jordan, S. J., Fasching, P. A., Beckmann, M. W., Risch, H. A., Rossing, M. A., Doherty, J. A., Chang-Claude, J., Goodman, M. T., Dörk, T., Edwards, R., Modugno, F., Ness, R. B., Matsuo, K., Mizuno, M., Karlan, B. Y., Goode, E. L., Kjær, S. K., Høgdall, E., Schildkraut, J. M., Terry, K. L., Cramer, D. W., Bandera, E. V., Paddock, L. E., Kiemeney, L. A., Massuger, L. F. A. G., Sutphen, R., Anton-Culver, H., Ziogas, A., Menon, U., Gayther, S. A., Ramus, S. J., Gentry-Maharaj, A., Pearce, C. L., Wu, A. H., Kupryjanczyk, J., Jensen, A., Webb, P. M., Moysich, K. B. & Ovarian Cancer Association Consortium, 09.2017, In: CANCER EPIDEM BIOMAR. 26, 9, p. 1470-1473 4 p.

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

  11. Issues with European guidelines for phenylketonuria - Authors' reply

    van Spronsen, F. J., van Wegberg, A. M. J., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., Trefz, F. K., van Rijn, M. & MacDonald, A., 09.2017, In: LANCET DIABETES ENDO. 5, 9, p. 683-684 2 p.

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

  12. The first case of domino-split-liver transplantation in maple syrup urine disease

    Herden, U., Li, J., Fischer, L., Brinkert, F., Blohm, M., Santer, R., Nashan, B. & Grabhorn, E., 09.2017, In: PEDIATR TRANSPLANT. 21, 6

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

  13. Recent Progress in Deciphering the Etiopathogenesis of Primary Membranous Nephropathy

    Kronbichler, A., Oh, J., Meijers, B., Mayer, G. & Shin, J. I., 17.08.2017, In: BIOMED RES INT . 2017, p. 1936372

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

  14. Assessment of the HIV-1 reservoir in CD4+ regulatory T cells by a Droplet Digital PCR based approach

    Dunay, G. A., Solomatina, A., Kummer, S., Hüfner, A., Bialek, J. K., Eberhard, J. M., Tolosa, E., Hauber, J. & Wiesch, J. S. Z., 15.08.2017, In: VIRUS RES. 240, p. 107-111

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

  15. Factors associated with cardiovascular target organ damage in children after renal transplantation

    Borchert-Mörlins, B., Thurn, D., Schmidt, B. M. W., Büscher, A. K., Oh, J., Kier, T., Bauer, E., Baig, S., Kanzelmeyer, N., Kemper, M. J., Büscher, R. & Melk, A., 13.08.2017, In: PEDIATR NEPHROL.

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

  16. Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)

    Schubert, D., Klein, M-C., Hassdenteufel, S., Caballero-Oteyza, A., Yang, L., Proietti, M., Bulashevska, A., Kemming, J., Kühn, J., Winzer, S., Rusch, S., Fliegauf, M., Schäffer, A. A., Pfeffer, S., Geiger, R., Cavalié, A., Cao, H., Yang, F., Li, Y., Rizzi, M., Eibel, H., Kobbe, R., Marks, A. L., Peppers, B. P., Hostoffer, R. W., Puck, J. M., Zimmermann, R. & Grimbacher, B., 04.08.2017, In: J ALLERGY CLIN IMMUN.

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

  17. Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm

    Tegtmeyer, D., Seidl, M., Gerner, P., Baumann, U. & Klemann, C., 08.2017, In: PEDIAT ALLERG IMM-UK. 28, 5, p. 412-429 18 p.

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

  18. Medizinische Versorgung von Flüchtlingen. Chancen und Herausforderungen in Hamburg – ein Praxisbericht

    Jakubowski, E., Rau, C., Quellhorst, S., Sothmann, P., Plenge-Bönig, A. & Niessen, J., 08.2017, In: GESUNDHEITSWESEN. 79, 8-09, p. 599-604 6 p.

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

  19. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

    Simonati, A., Williams, R. E., Nardocci, N., Laine, M., Battini, R., Schulz, A., Garavaglia, B., Moro, M. F., Pezzini, F. & Santorelli, F. M., 08.2017, In: DEV MED CHILD NEUROL. 59, 8, p. 815-821 7 p.

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

  20. Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

    Böhringer, J., Santer, R., Schumacher, N., Gieseke, F., Cornils, K., Pechan, M., Kustermann-Kuhn, B., Handgretinger, R., Schöls, L., Harzer, K., Krägeloh-Mann, I. & Müller, I., 31.07.2017, In: HUM MUTAT. 38, 11, p. 1511-1520

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

  21. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

    Park, J. H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grüneberg, M. & Marquardt, T., 27.07.2017, In: GENET MED.

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

  22. Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

    du Moulin, M., Thies, B., Blohm, M., Oh, J., Kemper, M. J., Santer, R. & Mühlhausen, C., 12.07.2017, In: JIMD reports.

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

  23. 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

  24. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

    Grünert, S. C., Schlatter, S. M., Schmitt, R. N., Gemperle-Britschgi, C., Mrázová, L., Balcı, M. C., Bischof, F., Çoker, M., Das, A. M., Demirkol, M., de Vries, M., Gökçay, G., Häberle, J., Uçar, S. K., Lotz-Havla, A. S., Lücke, T., Roland, D., Rutsch, F., Santer, R., Schlune, A., Staufner, C., Schwab, K. O., Mitchell, G. A. & Sass, J. O., 07.2017, In: MOL GENET METAB. 121, 3, p. 206-215 10 p.

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

  25. Depletion of Jmjd1c impairs adipogenesis in murine 3T3-L1 cells

    Buerger, F., Müller, S., Ney, N., Weiner, J., Heiker, J. T., Kallendrusch, S., Kovacs, P., Schleinitz, D., Thiery, J., Stadler, S. C. & Burkhardt, R., 07.2017, In: BBA-MOL BASIS DIS. 1863, 7, p. 1709-1717 9 p.

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

  26. Frühe beidseitige Nephrektomie bei Säuglingen mit pränataler ARPKD: Prognoseverbesserung oder unnötiger Aufwand?

    Riechardt, S., Koch, M., Oh, J. & Fisch, M., 07.2017, In: UROLOGE. 56, 7, p. 882-886 5 p.

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

  27. Intermediate Follow-up of Pediatric Patients With Hemolytic Uremic Syndrome During the 2011 Outbreak Caused by E. coli O104:H4

    Loos, S., Aulbert, W., Hoppe, B., Ahlenstiel-Grunow, T., Kranz, B., Wahl, C., Staude, H., Humberg, A., Benz, K., Krause, M., Pohl, M., Liebau, M. C., Schild, R., Lemke, J., Beringer, O., Müller, D., Härtel, C., Wigger, M., Vester, U., Konrad, M., Haffner, D., Pape, L., Oh, J. & Kemper, M. J., 15.06.2017, In: CLIN INFECT DIS. 64, 12, p. 1637-1643 7 p.

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

  28. Transition structures and timing of transfer from paediatric to adult-based care after kidney transplantation in Germany: a qualitative study: a qualitative study

    Prüfe, J., Dierks, M-L., Bethe, D., Oldhafer, M., Müther, S., Thumfart, J., Feldkötter, M., Büscher, A., Sauerstein, K., Hansen, M., Pohl, M., Drube, J., Thiel, F., Rieger, S., John, U., Taylan, C., Dittrich, K., Hollenbach, S., Klaus, G., Fehrenbach, H., Kranz, B., Montoya, C., Lange-Sperandio, B., Ruckenbrod, B., Billing, H., Staude, H., Brunkhorst, R., Rusai, K., Pape, L. & Kreuzer, M., 12.06.2017, In: BMJ OPEN. 7, 6, p. e015593

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

  29. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)

    Kuemmerle-Deschner, J. B., Ozen, S., Tyrrell, P. N., Kone-Paut, I., Goldbach-Mansky, R., Lachmann, H., Blank, N., Hoffman, H. M., Weissbarth-Riedel, E., Hugle, B., Kallinich, T., Gattorno, M., Gul, A., Ter Haar, N., Oswald, M., Dedeoglu, F., Cantarini, L. & Benseler, S. M., 06.2017, In: ANN RHEUM DIS. 76, 6, p. 942-947

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

  30. Effect of patent ductus arteriosus and patent foramen ovale on left ventricular stroke volume measurement by electrical velocimetry in comparison to transthoracic echocardiography in neonates

    Blohm, M. E., Hartwich, J., Obrecht, D., Kersten, J. F. & Singer, D., 06.2017, In: J CLIN MONIT COMPUT. 31, 3, p. 589-598

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

  31. Health-related quality of life after combined liver and kidney transplantation in children

    Schmaeschke, K., Lezius, S., Grabhorn, E., Kemper, M. J. & Brinkert, F., 06.2017, In: PEDIATR TRANSPLANT. 21, 4, p. e12902

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

  32. Application of ICP-MS and HPLC-ICP-MS for diagnosis and therapy of a severe intoxication with hexavalent chromium and inorganic arsenic

    Heitland, P., Blohm, M., Breuer, C., Brinkert, F., Achilles, E. G., Pukite, I. & Köster, H. D., 05.2017, In: J TRACE ELEM MED BIO. 41, p. 36-40 5 p.

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

  33. Hypereosinophilic Syndrome After Liver Transplantation: A Case Report and a Review of the Literature

    Aulbert, W., Kobbe, R., Breuer, C., Briem-Richter, A., Schäfer, H., Brinkert, F., Dettmar, A., Kemper, M. J. & Grabhorn, E., 05.2017, In: TRANSPLANTATION. 101, 5, p. e166-e169

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

  34. Akutes Nierenversagen bei Urachuszyste?

    Klaassen, I., Wolf, M., Kemper, M. J., Riechardt, S., Boettcher, M., Herrmann, J. & Singer, D., 04.2017, In: Z GEBURTSH NEONATOL. 221, 2, p. 88-91

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

  35. Management Strategies for CLN2 Disease

    Williams, R. E., Adams, H. R., Blohm, M., Cohen-Pfeffer, J. L., de Los Reyes, E., Denecke, J., Drago, K., Fairhurst, C., Frazier, M., Guelbert, N., Kiss, S., Kofler, A., Lawson, J. A., Lehwald, L., Leung, M-A., Mikhaylova, S., Mink, J. W., Nickel, M., Shediac, R., Sims, K., Specchio, N., Topcu, M., von Löbbecke, I., West, A., Zernikow, B. & Schulz, A., 04.2017, In: PEDIATR NEUROL. 69, p. 102-112 11 p.

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

  36. Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany

    Gramer, G., Abdoh, G., Ben-Omran, T., Shahbeck, N., Ali, R., Mahmoud, L., Fang-Hoffmann, J., Hoffmann, G. F., Al Rifai, H. & Okun, J. G., 04.2017, In: WORLD J PEDIATR. 13, 2, p. 136-143 8 p.

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

  37. 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

  38. Case report - atypical hemolytic uremic syndrome triggered by influenza B

    Kobbe, R., Schild, R., Christner, M., Oh, J., Loos, S. & Kemper, M. J., 20.03.2017, In: BMC NEPHROL. 18, 1, p. 96

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

  39. TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

    Fagerholm, R., Khan, S., Schmidt, M. K., García-Closas, M., Heikkilä, P., Saarela, J., Beesley, J., Jamshidi, M., Aittomäki, K., Liu, J., Ali, H. R., Andrulis, I. L., Beckmann, M. W., Behrens, S., Blows, F. M., Brenner, H., Chang-Claude, J., Couch, F. J., Czene, K., Fasching, P. A., Figueroa, J., Floris, G., Glendon, G., Guo, Q., Hall, P., Hallberg, E., Hamann, U., Holleczek, B., Hooning, M. J., Hopper, J. L., Jager, A., Kabisch, M., Keeman, R., Kosma, V-M., Lambrechts, D., Lindblom, A., Mannermaa, A., Margolin, S., Provenzano, E., Shah, M., Southey, M. C., Dennis, J., Lush, M., Michailidou, K., Wang, Q., Bolla, M. K., Dunning, A. M., Easton, D. F., Pharoah, P. P. D., Chenevix-Trench, G., Blomqvist, C., Nevanlinna, H. & kConFab/AOCS Investigators, 14.03.2017, In: ONCOTARGET. 8, 11, p. 18381-18398 18 p.

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

  40. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., De Laet, C., Leuzzi, V., Rutsch, F., Sivri, H. S., Vijay, S., Bal, M. O., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Munafo, A., Mould, D. R., Moreau-Stucker, F. & Rogoff, D., 09.03.2017, In: ORPHANET J RARE DIS. 12, 1, p. 47

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

  41. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

    Zeltner, N. A., Baumgartner, M. R., Bondarenko, A., Ensenauer, R., Karall, D., Kölker, S., Mühlhausen, C., Scholl-Bürgi, S., Thimm, E., Quitmann, J., Burgard, P., Landolt, M. A. & Huemer, M., 01.03.2017, In: JIMD reports.

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

  42. 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

  43. Functional assessment of the kidneys in a 10 month-old child with renal artery stenosis by intravoxel incoherent motion

    Herrmann, J., Ittrich, H., Kaul, M. G., Groth, M., Tozakidou, M., Blohm, M., Oh, J. & Adam, G., 03.2017, In: NEPHROLOGY. 22, 3, p. 257-260 4 p.

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

  44. No evidence that genetic variation in the myeloid-derived suppressor cell pathway influences ovarian cancer survival

    Sucheston-Campbell, L. E., Cannioto, R., Clay, A. I., Etter, J. L., Eng, K. H., Liu, S., Battaglia, S., Hu, Q., Szender, J. B., Minlikeeva, A., Joseph, J., Mayor, P., Abrams, S. I., Segal, B., Wallace, P. K., Soh, K. T., Zsiros, E. Z., Anton-Culver, H., Bandera, E. V., Beckmann, M. W., Berchuck, A., Bjørge, L., Bruegl, A., Campbell, I. G., Campbell, S. P., Chenevix-Trench, G., Cramer, D., Dansonka-Mieszkowska, A., Dao, F., Diergaarde, B., Doerk, T., Doherty, J. A., du Bois, A., Eccles, D., Engelholm, S. A., Fasching, P. A., Gayther, S. A., Gentry-Maharaj, A., Glasspool, R. M., Goodman, M. T., Gronwald, J., Harter, P., Hein, A., Heitz, F., Hillemmanns, P., Hogdall, C., Høgdall, E. V. S., Huzarski, T., Jensen, A., Johnatty, S. E., Jung, A., Karlan, B., Klapdor, R., Kluz, T., Konopka, B., Krüger Kjær, S., Kupryjanczyk, J., Lambrechts, D., Lester, J., Lubiński, J., Levine, D. A., Lundvall, L., McGuire, V., McNeish, I. A., Menon, U., Modugno, F., Ness, R. B., Orsulic, S., Paul, J., Pearce, C. L., Pejovic, T., Pharoah, P., Ramus, S. J., Rothstein, J., Rossing, M. A., Rübner, M., Schildkraut, J. M., Schmalfeldt, B., Schwaab, I., Siddiqui, N., Sieh, W., Sobiczewski, P., Song, H., Terry, K. L., Van Nieuwenhuysen, E., Vanderstichele, A., Vergote, I., Walsh, C. S., Webb, P. M., Wentzensen, N., Whittemore, A. S., Wu, A. H., Ziogas, A., Odunsi, K., Chang-Claude, J., Goode, E. L. & Moysich, K. B., 03.2017, In: CANCER EPIDEM BIOMAR. 26, 3, p. 420-424

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

  45. Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II

    Markmann, S., Krambeck, S., Hughes, C. J., Mirzaian, M., Aerts, J. M. F. G., Saftig, P., Schweizer, M., Vissers, J. P. C., Braulke, T. & Damme, M., 03.2017, In: MOL CELL PROTEOMICS. 16, 3, p. 438-450 13 p.

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

  46. Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

    Kar, S. P., Adler, E., Tyrer, J., Hazelett, D. J., Anton-Culver, H., Bandera, E. V., Beckmann, M. W., Berchuck, A., Bogdanova, N., Brinton, L., Butzow, R., Campbell, I., Carty, K., Chang-Claude, J., Cook, L. S., Cramer, D. W., Cunningham, J. M., Dansonka-Mieszkowska, A., Doherty, J. A., Dörk, T., Dürst, M., Eccles, D., Fasching, P. A., Flanagan, J. M., Gentry-Maharaj, A., Glasspool, R., Goode, E. L., Goodman, M. T., Gronwald, J., Heitz, F., T Hildebrandt, M. A., Høgdall, E., Høgdall, C. K., Huntsman, D. G., Jensen, A., Karlan, B. Y., Kelemen, L. E., Kiemeney, L. A., Kjaer, S. K., Kupryjanczyk, J., Lambrechts, D., Levine, D. A., Li, Q., Lissowska, J., Lu, K. H., Lubiński, J., Massuger, L. F. A. G., McGuire, V., McNeish, I., Menon, U., Modugno, F., Monteiro, A. N. A., Moysich, K. B., Ness, R. B., Nevanlinna, H., Paul, J., Pearce, C. L., Pejovic, T., Permuth, J. B., Phelan, C., Pike, M. C., Poole, E. M., Ramus, S. J., Risch, H. A., Rossing, M. A., Salvesen, H. B., Schildkraut, J. M., Sellers, T. A., Sherman, M. E., Siddiqui, N., Sieh, W., Song, H., Southey, M., Terry, K. L., Tworoger, S. S., Walsh, C., Wentzensen, N., Whittemore, A. S., Wu, A. H., Yang, H. P., Zheng, W., Ziogas, A., Freedman, M. L., Gayther, S. A., Pharoah, P. P. D. & Lawrenson, K., 14.02.2017, In: BRIT J CANCER. 116, 4, p. 524-535 12 p.

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

  47. Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture

    Schmiesing, J., Lohmöller, B., Schweizer, M., Tidow, H., Gersting, S. W., Muntau, A. C., Braulke, T. & Mühlhausen, C., 01.02.2017, In: HUM MOL GENET. 26, 3, p. 538-551

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

  48. Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

    Klemann, C., Esquivel, M., Magerus-Chatinet, A., Lorenz, M. R., Fuchs, I., Neveux, N., Castelle, M., Rohr, J., Bettoni da Cunha, C., Ebinger, M., Kobbe, R., Kremens, B., Kollert, F., Gambineri, E., Lehmberg, K., Seidel, M. G., Siepermann, K., Voelker, T., Schuster, V., Goldacker, S., Schwarz, K., Speckmann, C., Picard, C., Fischer, A., Rieux-Laucat, F., Ehl, S., Rensing-Ehl, A. & Neven, B., 02.2017, In: HAEMATOLOGICA. 102, 2, p. e52-e56

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

  49. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

    Harmatz, P. R., Mengel, E., Geberhiwot, T., Muschol, N. M., Hendriksz, C. J., Burton, B. K., Jameson, E., Berger, K. I., Jester, A., Treadwell, M., Sisic, Z. & Decker, C., 02.2017, In: AM J MED GENET A. 173, 2, p. 375-383

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

  50. Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series

    Lehmberg, K., Hassenpflug, W. A., Klaassen, I., Hillebrand, G., Oyen, F., Budde, U., Singer, D. & Schneppenheim, R., 02.2017, In: Z GEBURTSH NEONATOL. 221, 1, p. 39-42

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

  51. Lipid metabolism: from genetic loci to functional understanding

    Buerger, F. & Burkhardt, R., 02.2017, In: CURR OPIN LIPIDOL. 28, 1, p. 81-82 2 p.

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

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