Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2021

  2. A pediatric gateway initiative for glomerular disease: introducing PIONEER

    Gipson, D. S., Tarnoff, J., Lee, L., Vivarelli, M., Levtchenko, E., Oh, J., Smoyer, W. E., Desmond, H., Attalla, S. & Trachtman, H., 03.2021, In: KIDNEY INT. 99, 3, p. 515-518 4 p.

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

  3. Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

    Kim, A., Grover, A., Hammon, K., de Hart, G., Slasor, P., Cherukuri, A., Ajayi, T., Jacoby, D., Schulz, A., Specchio, N., de Los Reyes, E., Gissen, P. & Henshaw, J. W., 03.2021, In: CTS-CLIN TRANSL SCI. 14, 2, p. 635-644 10 p.

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

  4. Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

    Ammer, L. S., Pohl, S., Breyer, S. R., Aries, C., Denecke, J., Perez, A., Petzoldt, M., Schrum, J., Müller, I. & Muschol, N. M., 03.2021, In: MOL GENET METAB REP. 26, 100704.

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

  5. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

    Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., Brown, K. E., Bruel, A-L., Brunet, T., Carneiro, M., Cremer, K., Day, R., Denommé-Pichon, A-S., Dyment, D. A., Engels, H., Fisher, R., Goh, E. S., Hajianpour, M. J., Haertel, L. R. M., Hauer, N., Hempel, M., Herget, T., Johannsen, J., Kraus, C., Le Guyader, G., Lesca, G., Mau-Them, F. T., McDermott, J. H., McWalter, K., Meyer, P., Õunap, K., Popp, B., Reimand, T., Riedhammer, K. M., Russo, M., Sadleir, L. G., Saenz, M., Schiff, M., Schuler, E., Syrbe, S., Van der Ven, A. T., Verloes, A., Willems, M., Zweier, C., Steindl, K., Zweier, M. & Rauch, A., 03.2021, In: GENET MED. 23, 3, p. 543-554 12 p.

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

  6. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

    Kloth, K., Neu, A., Rau, I., Hülsemann, W., Kutsche, K. & Volk, A. E., 03.2021, In: EUR J MED GENET. 64, 3, 104161.

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

  7. Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

    Mahdieh, N., Soveizi, M., Tavasoli, A. R., Rabbani, A., Ashrafi, M. R., Kohlschütter, A. & Rabbani, B., 05.02.2021, In: SCI REP-UK. 11, 1, p. 3231 3231.

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

  8. The Effect of Interleukin-4 and Dexamethasone on RNA-Seq-Based Transcriptomic Profiling of Human Podocytes: A Potential Role in Minimal Change Nephrotic Syndrome

    Lee, J. M., Ko, Y., Lee, C. H., Jeon, N., Lee, K. H., Oh, J., Kronbichler, A., Saleem, M. A., Lim, B. J. & Shin, J. I., 01.02.2021, In: J CLIN MED. 10, 3, 496.

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

  9. Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis

    Klämbt, V., Gimpel, C., Bald, M., Gerken, C., Billing, H., Loos, S., Hansen, M., König, J., Vinke, T., Montoya, C., Sperandio, B. L., Kirschstein, M., Hennies, I., Pohl, M. & Häffner, K., 02.2021, In: PEDIATR NEPHROL. 36, 2, p. 463-471 9 p.

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

  10. Distribution and management of the pediatric refugee population with renal replacement: A German pediatric cohort

    Lemke, J., Schild, R., Konrad, M., Pape, L., Oh, J. & Gesellschaft für Pädiatrische Nephrologie (GPN), 02.2021, In: PEDIATR NEPHROL. 36, 2, p. 271-277 7 p.

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

  11. Long-term impact of systematic pain and sedation management on cognitive, motor, and behavioral outcomes of extremely preterm infants at preschool age

    Steinbauer, P., Deindl, P., Fuiko, R., Unterasinger, L., Cardona, F., Wagner, M., Edobor, J., Werther, T., Berger, A., Olischar, M. & Giordano, V., 02.2021, In: PEDIATR RES. 89, 3, p. 540-548 9 p.

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

  12. Mutations within FGFR1 are associated with superior outcome in a series of 83 diffuse midline gliomas with H3F3A K27M mutations

    Schüller, U., Iglauer, P., Dorostkar, M. M., Mawrin, C., Herms, J., Giese, A., Glatzel, M. & Neumann, J. E., 02.2021, In: ACTA NEUROPATHOL. 141, 2, p. 323-325 3 p.

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

  13. Ophthalmologische Manifestationen bei neuronalen Ceroid-Lipofuszinosen (NCL): NCL als Erkrankungen von Retina und Gehirn – Rolle der Augenärzte

    Atiskova, Y., Kohlschütter, A., Spitzer, M. S. & Dulz, S., 02.2021, In: OPHTHALMOLOGE. 118, 2, p. 113-118 6 p.

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

  14. Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

    Dulz, S., Atiskova, Y., Engel, P., Wildner, J., Tsiakas, K. & Santer, R., 02.2021, In: OPHTHALMIC GENET. 42, 1, p. 23-27 5 p.

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

  15. Steering Transplant Immunosuppression by Measuring Virus-Specific T Cell Levels: The Randomized, Controlled IVIST Trial

    Ahlenstiel-Grunow, T., Liu, X., Schild, R., Oh, J., Taylan, C., Weber, L. T., Staude, H., Verboom, M., Schröder, C., Sabau, R., Großhennig, A. & Pape, L., 02.2021, In: J AM SOC NEPHROL. 32, 2, p. 502-516 15 p.

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

  16. The plastid proteome of the nonphotosynthetic chlorophycean alga Polytomella parva

    Fuentes-Ramírez, E. O., Vázquez-Acevedo, M., Cabrera-Orefice, A., Guerrero-Castillo, S. & González-Halphen, D., 02.2021, In: MICROBIOL RES. 243, p. 126649

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

  17. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M-F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M., Vanderver, A., Martos-Moreno, G. Á., Polychronakos, C., Wolf, N. I. & Bernard, G., 23.01.2021, In: J CLIN ENDOCR METAB. 106, 2, p. e660-e674 15 p.

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

  18. B-Flow Sonography vs. Color Doppler Sonography for the Assessment of Vascularity in Pediatric Kidney Transplantation

    Dammann, E., Groth, M., Schild, R-S., Lemke, A., Oh, J., Adam, G. & Herrmann, J., 01.2021, In: ROFO-FORTSCHR RONTG. 193, 1, p. 49-60 12 p.

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

  19. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1

    Autophagy, 01.2021, In: AUTOPHAGY. 17, 1, p. 1-382 382 p.

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

  20. SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

    Pfefferle, S., Günther, T., Kobbe, R., Czech-Sioli, M., Nörz, D., Santer, R., Oh, J., Kluge, S., Oestereich, L., Peldschus, K., Indenbirken, D., Huang, J., Grundhoff, A., Aepfelbacher, M., Knobloch, J. K., Lütgehetmann, M. & Fischer, N., 01.2021, In: CLIN MICROBIOL INFEC. 27, 1, p. 130.e5-130.e8

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

  21. Treatment of refractory acute myeloid leukaemia during pregnancy with venetoclax, high-dose cytarabine and mitoxantrone

    Karagiannis, P., Alsdorf, W., Tallarek, A-C., Blohm, M. E., Oelrich, J., Waizenegger, J. S., Wolschke, C., Hecher, K., Singer, D., Bokemeyer, C. & Fiedler, W., 01.2021, In: BRIT J HAEMATOL. 192, 2, p. e60-e63

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

  22. A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

    Finkel, R. S., McDonald, C. M., Lee Sweeney, H., Finanger, E., Neil Knierbein, E., Wagner, K. R., Mathews, K. D., Marks, W., Statland, J., Nance, J., McMillan, H. J., McCullagh, G., Tian, C., Ryan, M. M., O'Rourke, D., Müller-Felber, W., Tulinius, M., Burnette, W. B., Nguyen, C-T., Vijayakumar, K., Johannsen, J., Phan, H. C., Eagle, M., MacDougall, J., Mancini, M., Donovan, J. M. & PolarisDMD Study Group, 2021, In: J NEUROMUSCULAR DIS. 8, 5, p. 769-784 16 p.

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

  23. Beurteilung der Analgosedierungstiefe bei pädiatrischen Intensivpatient*innen mit Hilfe der nozizeptiven Flexionsreflex-Schwelle

    Uhlenberg, F., 2021, Hamburg. 75 p.

    Research output: Book/anthology › Dissertations

  24. Born Under COVID-19 Pandemic Conditions: Infant Regulatory Problems and Maternal Mental Health at 7 Months Postpartum

    Perez, A., Göbel, A., Stuhrmann, L. Y., Schepanski, S., Singer, D., Bindt, C. & Mudra, S., 2021, In: FRONT PSYCHOL. 12, 12, p. 805543 805543.

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

  25. Chronisch-rezidivierende Gonarthritis und Autoimmunneutropenie

    Fröhlich, A., Lehmberg, K., Pagel, J., Peldschus, K., Schoof, B., Schulze-Sturm, U. & Speth, F., 2021, In: arthritis + rheuma. 41, 6, p. 387-392 6 p.

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

  26. Collapsing Focal Segmental Glomerulosclerosis in Viral Infections

    Mühlig, A., Gies, S., Huber, T. B. & Braun, F., 2021, In: FRONT IMMUNOL. 12, 800074.

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

  27. Complexome Profiling-Exploring Mitochondrial Protein Complexes in Health and Disease

    Cabrera-Orefice, A., Potter, A., Evers, F., Hevler, J. F. & Guerrero-Castillo, S., 2021, In: FRONT CELL DEV BIOL. 9, p. 796128

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

  28. Die Perinatale Ethikkommission am UKE - Von der Nützlichkeit des nicht Notwendigen

    Singer, D., 2021, Praxisfeld Klinische Ethik: Theorie, Konzepte, Umsetzung am Universitätsklinikum Hamburg Eppendorf. Göke, B., Prölß, J. & Osten, P. (eds.). 1 ed. Berlin: Medizinisch Wissenschaftliche Verlagsgesellschaft, p. 95-98 4 p.

    Research output: SCORING: Contribution to book/anthology › Contribution to research communication report › Transfer

  29. Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

    Lotz-Havla, A. S., Woidy, M., Guder, P., Schmiesing, J., Erdmann, R., Waterham, H. R., Muntau, A. C. & Gersting, S. W., 2021, In: FRONT GENET. 12, 726174.

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

  30. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

    D. J. KLIONSKY ET AL., 2021, In: AUTOPHAGY.

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

  31. Heterogeneous Recommendations for School Attendance in Children With Chronic Kidney Diseases During the COVID-19 Pandemic in Europe

    Schild, R., Hopf, L., Loos, S., Oh, J. & Levtchenko, E., 2021, In: FRONT PEDIATR. 9, 646595.

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

  32. Impact of hepatopathy in pediatric patients after surgery for complex congenital heart disease

    Kehl, T., Biermann, D., Briem-Richter, A., Schoen, G., Olfe, J., Sachweh, J. S., Fischer, L., Schaefer, H., Kozlik-Feldmann, R. & Gottschalk, U., 2021, In: PLOS ONE. 16, 3, p. e0248776

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

  33. Prävention des Schütteltraumas

    Püschel, K., Seifert, D., Sperhake, J-P., Matschke, J., Finter, J., Pawils, S., Timmermann, L. M., Renz, S., Adler, I. & Ondruschka, B., 2021, In: Päd Praxis. 27, p. 417-421

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

  34. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

    Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.

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

  35. 2020

  36. Tuberculosis Disease in Children and Adolescents on Therapy With Antitumor Necrosis Factor-ɑ Agents: A Collaborative, Multicenter Paediatric Tuberculosis Network European Trials Group (ptbnet) Study

    Noguera-Julian, A., Calzada-Hernández, J., Brinkmann, F., Basu Roy, R., Bilogortseva, O., Buettcher, M., Carvalho, I., Chechenyeva, V., Falcón, L., Goetzinger, F., Guerrero-Laleona, C., Hoffmann, P., Jelusic, M., Niehues, T., Ozere, I., Shackley, F., Suciliene, E., Welch, S. B., Schölvinck, E. H., Ritz, N., Tebruegge, M. & Paediatric Tuberculosis Network European Trials Group (ptbnet) Tuberculosis Associated With Anti–TNF-α Therapy Study Group, 17.12.2020, In: CLIN INFECT DIS. 71, 10, p. 2561-2569 9 p.

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

  37. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration

    Polovitskaya, M. M., Barbini, C., Martinelli, D., Harms, F. L., Cole, F. S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D. J., Kutsche, K., Tartaglia, M. & Jentsch, T. J., 03.12.2020, In: AM J HUM GENET. 107, 6, p. 1062-1077 16 p.

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

  38. Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation

    Boettcher, J., Denecke, J., Barkmann, C. & Wiegand-Grefe, S., 02.12.2020, In: INT J ENV RES PUB HE. 17, 23, 8975.

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

  39. Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis

    Taylan, C., Driemeyer, J., Schmitt, C. P., Pape, L., Büscher, R., Galiano, M., König, J., Schürfeld, C., Spitthöver, R., Versen, A., Koziolek, M., Marsen, T. A., Stein, H., Schaefer, J. R., Heibges, A., Klingel, R., Oh, J., Weber, L. T. & Klaus, G., 01.12.2020, In: AM J CARDIOL. 136, p. 38-48 11 p.

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

  40. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

    Bryant, L., Cox, S. G., Marchione, D., Joiner, E. F., Wilson, K., Janssen, K., Lee, P., March, M. E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K. J., Wadley, A., Mancini, G. M. S., Powell-Hamilton, N., van de Kamp, J., Grebe, T., Dean, J., Ross, A., Crawford, H. P., Powis, Z., Cho, M. T., Willing, M. C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C. B., Retterer, K., Schuette, J. L., Innis, J. W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T. M., Monaghan, K. G., Yuan, Z-F., Dubbs, H., Bend, R., Lee, J. A., Lyons, M. J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K. L., Odent, S., Cogne, B., Mercier, S., Bezieau, S., Besnard, T., Kury, S., Redon, R., Reinson, K., Wojcik, M. H., Õunap, K., Ilves, P., Innes, A. M., Kernohan, K. D., Costain, G., Meyn, M. S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., Martin, M. G., Martinez-Agosto, J. A., Nelson, S. F., Palmer, C. G. S., Papp, J. C., Parker, N. H., Sinsheimer, J. S., Vilain, E., Wan, J., Yoon, A. J., Zheng, A., Brimble, E., Ferrero, G. B., Radio, F. C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J. M., Umana, L., Weiss, M. M., Gotway, G., Stuurman, K. E., Thompson, M. L., McWalter, K., Stumpel, C. T. R. M., Stevens, S. J. C., Stegmann, A. P. A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L. W., Larsen, M. J., Byler, M., Lebel, R. R., Hurst, A. C., Dean, J., Schrier Vergano, S. A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M. I., Longo, N., Sellars, E., Louie, R. J., Cathey, S. S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J. G., Chung, W., Garcia, B., Hakonarson, H. H., Bhoj, E. J. & DDD Study, 12.2020, In: SCI ADV. 6, 49

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

  41. 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

  42. 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

  43. 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

  44. Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T

    Godel, T., V Cossel, K., Friedrich, R. E., Glatzel, M., Canaan-Kühl, S., Duning, T., Kronlage, M., Heiland, S., Bendszus, M., Muschol, N. & Mautner, V-F., 30.11.2020, In: DIAGNOSTICS. 10, 12

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

  45. Lithocholic bile acid induces apoptosis in human nephroblastoma cells: a non-selective treatment option

    Trah, J., Arand, J., Oh, J., Pagerols-Raluy, L., Trochimiuk, M., Appl, B., Heidelbach, H., Vincent, D., Saleem, M. A., Reinshagen, K., Mühlig, A. K. & Boettcher, M., 23.11.2020, In: SCI REP-UK. 10, 1, p. 20349

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

  46. Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

    Boettcher, J., Filter, B., Denecke, J., Hot, A., Daubmann, A., Zapf, A., Wegscheider, K., Zeidler, J., von der Schulenburg, J-M. G., Bullinger, M., Rassenhofer, M., Schulte-Markwort, M. & Wiegand-Grefe, S., 20.11.2020, In: BMC FAM PRACT. 21, 1, 239.

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

  47. 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

  48. Heregulin (HRG) assessment for clinical trial eligibility testing in a molecular registry (PRAEGNANT) in Germany

    Huebner, H., Kurbacher, C. M., Kuesters, G., Hartkopf, A. D., Lux, M. P., Huober, J., Volz, B., Taran, F-A., Overkamp, F., Tesch, H., Häberle, L., Lüftner, D., Wallwiener, M., Müller, V., Beckmann, M. W., Belleville, E., Ruebner, M., Untch, M., Fasching, P. A., Janni, W., Fehm, T. N., Kolberg, H-C., Wallwiener, D., Brucker, S. Y., Schneeweiss, A. & Ettl, J., 11.11.2020, In: BMC CANCER. 20, 1, p. 1091

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

  49. 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

  50. Intravesical monitoring of intra-abdominal pressure after renal transplantation in children: A safety and feasibility study

    Wagner, J., Herden, U., Fischer, L., Schild, R., Vettorazzi, E., Herrmann, J., Ebenebe, C. U., Singer, D. & Deindl, P., 11.2020, In: PEDIATR TRANSPLANT. 24, 7, p. e13781

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

  51. Treatment Landscape and Prognosis After Treatment with Trastuzumab Emtansine

    Laakmann, E., Emons, J., Taran, F-A., Janni, W., Uhrig, S., Overkamp, F., Kolberg, H-C., Hadji, P., Tesch, H., Häberle, L., Ettl, J., Lüftner, D., Wallwiener, M., Schulmeyer, C., Müller, V., Beckmann, M. W., Belleville, E., Wimberger, P., Hielscher, C., Kurbacher, C., Wuerstlein, R., Thomssen, C., Untch, M., Volz, B., Fasching, P. A., Fehm, T. N., Wallwiener, D., Brucker, S. Y., Schneeweiss, A., Lux, M. P. & Hartkopf, A. D., 11.2020, In: GEBURTSH FRAUENHEILK. 80, 11, p. e289

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

  52. Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry

    Maeser, S., Petre, B-A., Ion, L., Rawer, S., Kohlschütter, A., Santorelli, F. M., Simonati, A., Schulz, A. & Przybylski, M., 29.10.2020, In: J MASS SPECTROM. 56, 1, e4675.

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

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