Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2021

  2. Super-enhancer-based identification of a BATF3/IL-2R-module reveals vulnerabilities in anaplastic large cell lymphoma

    Liang, H-C., Costanza, M., Prutsch, N., Zimmerman, M. W., Gurnhofer, E., Montes-Mojarro, I. A., Abraham, B. J., Prokoph, N., Stoiber, S., Tangermann, S., Lobello, C., Oppelt, J., Anagnostopoulos, I., Hielscher, T., Pervez, S., Klapper, W., Zammarchi, F., Silva, D-A., Garcia, K. C., Baker, D., Janz, M., Schleussner, N., Fend, F., Pospíšilová, Š., Janiková, A., Wallwitz, J., Stoiber, D., Simonitsch-Klupp, I., Cerroni, L., Pileri, S., de Leval, L., Sibon, D., Fataccioli, V., Gaulard, P., Assaf, C., Knörr, F., Damm-Welk, C., Woessmann, W., Turner, S. D., Look, A. T., Mathas, S., Kenner, L. & Merkel, O., 22.09.2021, In: NAT COMMUN. 12, 1, 5577.

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

  3. Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma

    DeSisto, J., Lucas Jr, J. T., Xu, K., Donson, A., Lin, T., Sanford, B., Wu, G., Tran, Q. T., Hedges, D., Hsu, C-Y., Armstrong, G. T., Arnold, M., Bhatia, S., Flannery, P., Lemma, R., Hardie, L., Schüller, U., Venkataraman, S., Hoffman, L. M., Dorris, K., Mulcahy Levy, J. M., Hankinson, T. C., Handler, M., Liu, A. K., Foreman, N., Vibhakar, R., Jones, K., Allen, S., Zhang, J., Baker, S. J., Merchant, T. E., Orr, B. A. & Green, A. L., 20.09.2021, In: NAT COMMUN. 12, 1, 5531.

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

  4. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Kuseyri Hübschmann, O., Horvath, G., Cortès-Saladelafont, E., Yıldız, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S-N., Pearson, T. S., Zafeiriou, D. I., Kulhánek, J., Kurian, M. A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H. S., Leuzzi, V., Hoffmann, G. F., Jeltsch, K., Hübschmann, D., Garbade, S. F., García-Cazorla, A., Opladen, T. & iNTD Registry Study Group, 20.09.2021, In: NAT COMMUN. 12, 1, p. 5529

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

  5. A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

    Modin, L., Ng, V., Gissen, P., Raiman, J., Pfister, E. D., Das, A., Santer, R., Faghfoury, H., Santra, S. & Baumann, U., 17.09.2021, In: CHILDREN-BASEL. 8, 9, 819.

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

  6. KIR3DS1 directs NK cell-mediated protection against human adenovirus infections

    Jung, J. M., Ching, W., Baumdick, M. E., Hofmann-Sieber, H., Bosse, J. B., Koyro, T., Möller, K. J., Wegner, L., Niehrs, A., Russu, K., Ohms, M., Zhang, W., Ehrhardt, A., Duisters, K., Spierings, E., Hölzemer, A., Körner, C., Jansen, S. A., Peine, S., Königs, I., Lütgehetmann, M., Perez, D., Reinshagen, K., Lindemans, C. A., Altfeld, M., Belderbos, M., Dobner, T. & Bunders, M. J., 17.09.2021, In: SCI IMMUNOL. 6, 63, eabe2942.

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

  7. Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers

    Scheinin, M., Junnila, J., Reiner, G., MacDonald, A. & Muntau, A. C., 14.09.2021, In: NUTRIENTS. 13, 9, 3189.

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

  8. Perceived mental health in parents of children with rare congenital surgical diseases: a double ABCX model considering gender

    Boettcher, J., Zapf, H., Fuerboeter, M., Nazarian, R., Reinshagen, K., Wiegand-Grefe, S. & Boettcher, M., 09.09.2021, In: ORPHANET J RARE DIS. 16, 1, p. 384

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

  9. Bacteriophage Rescue Therapy of a Vancomycin-Resistant Enterococcus faecium Infection in a One-Year-Old Child following a Third Liver Transplantation

    Paul, K., Merabishvili, M., Hazan, R., Christner, M., Herden, U., Gelman, D., Khalifa, L., Yerushalmy, O., Coppenhagen-Glazer, S., Harbauer, T., Schulz-Jürgensen, S., Rohde, H., Fischer, L., Aslam, S., Rohde, C., Nir-Paz, R., Pirnay, J-P., Singer, D. & Muntau, A. C., 07.09.2021, In: VIRUSES-BASEL. 13, 9, p. 1785

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

  10. Analyse der Versorgungsstruktur angeborener Fehlbildungen in Deutschland

    Elrod, J., Boettcher, M., Mohr, C. & Reinshagen, K., 06.09.2021, In: DTSCH ARZTEBL INT. 2021, 35-36, p. 601-602 2 p.

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

  11. iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations

    Lotz-Havla, A. S., Woidy, M., Guder, P., Friedel, C. C., Klingbeil, J. M., Bulau, A-M., Schultze, A., Dahmen, I., Noll-Puchta, H., Kemp, S., Erdmann, R., Zimmer, R., Muntau, A. C. & Gersting, S. W., 03.09.2021, In: J PROTEOME RES. 20, 9, p. 4366-4380 15 p.

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

  12. Analyzing tyrosine kinase activity in head and neck cancer by functional kinomics: Identification of hyperactivated Src-family kinases as prognostic markers and potential targets

    Bußmann, L., Hoffer, K., von Bargen, C. M., Droste, C., Lange, T., Kemmling, J., Schröder-Schwarz, J., Vu, A. T., Akingunsade, L., Nollau, P., Rangarajan, S., de Wijn, R., Oetting, A., Müller, C., Böckelmann, L. C., Zech, H. B., Berger, J. C., Möckelmann, N., Busch, C-J., Böttcher, A., Gatzemeier, F., Klinghammer, K., Simnica, D., Binder, M., Struve, N., Rieckmann, T., Schumacher, U., Clauditz, T. S., Betz, C. S., Petersen, C., Rothkamm, K., Münscher, A. & Kriegs, M., 01.09.2021, In: INT J CANCER. 149, 5, p. 1166 - 1180 15 p.

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

  13. Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma

    Thomas, C., Federico, A., Sill, M., Bens, S., Oyen, F., Nemes, K., Johann, P. D., Hartmann, C., Hartmann, W., Sumerauer, D., Paterno, V., Samii, A., Kordes, U., Siebert, R., Frühwald, M. C., Paulus, W., Kool, M. & Hasselblatt, M., 01.09.2021, In: AM J SURG PATHOL. 45, 9, p. 1228-1234 7 p.

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

  14. IDH2 R172 Mutations Across Poorly Differentiated Sinonasal Tract Malignancies: Forty Molecularly Homogenous and Histologically Variable Cases With Favorable Outcome

    Glöss, S., Jurmeister, P., Thieme, A., Schmid, S., Cai, W. Y., Serrette, R. N., Perner, S., Ribbat-Idel, J., Pagenstecher, A., Bläker, H., Keber, U., Stadelmann, C., Zechel, S., Johann, P. D., Hasselblatt, M., Paulus, W., Thomas, C., Dohmen, H., Baumhoer, D., Frank, S., Agaimy, A., Schüller, U., Vasudevaraja, V., Snuderl, M., Liu, C. Z., Pfister, D. G., Jungbluth, A. A., Ghossein, R. A., Xu, B., Capper, D. & Dogan, S., 01.09.2021, In: AM J SURG PATHOL. 45, 9, p. 1190-1204 15 p.

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

  15. Multiplexed complexome profiling using tandem mass tags

    Guerrero-Castillo, S., Krisp, C., Küchler, K., Arnold, S., Schlüter, H. & Gersting, S. W., 01.09.2021, In: BBA-BIOENERGETICS. 1862, 9, 148448.

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

  16. Prediction of Nociception in Children Using the Nociceptive Flexion Reflex Threshold and the Bispectral Index-A Prospective Exploratory Observational Study

    Mauritz, M. D., Uhlenberg, F., Bashir-Elahi, D., Werther, T., Gottschalk, U., Ebenebe, C. U., Bergers, M., Giordano, V., Vettorazzi, E., Singer, D. & Deindl, P., 01.09.2021, In: PEDIATR CRIT CARE ME. 22, 9, p. e461-e470

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

  17. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

    Durno, C., Ercan, A. B., Bianchi, V., Edwards, M., Aronson, M., Galati, M., Atenafu, E. G., Abebe-Campino, G., Al-Battashi, A., Alharbi, M., Azad, V. F., Baris, H. N., Basel, D., Bedgood, R., Bendel, A., Ben-Shachar, S., Blumenthal, D. T., Blundell, M., Bornhorst, M., Bronsema, A., Cairney, E., Rhode, S., Caspi, S., Chamdin, A., Chiaravalli, S., Constantini, S., Crooks, B., Das, A., Dvir, R., Farah, R., Foulkes, W. D., Frenkel, Z., Gallinger, B., Gardner, S., Gass, D., Ghalibafian, M., Gilpin, C., Goldberg, Y., Goudie, C., Hamid, S. A., Hampel, H., Hansford, J. R., Harlos, C., Hijiya, N., Hsu, S., Kamihara, J., Kebudi, R., Knipstein, J., Koschmann, C., Kratz, C., Larouche, V., Lassaletta, A., Lindhorst, S., Ling, S. C., Link, M. P., Loret De Mola, R., Luiten, R., Lurye, M., Maciaszek, J. L., MagimairajanIssai, V., Maher, O. M., Massimino, M., McGee, R. B., Mushtaq, N., Mason, G., Newmark, M., Nicholas, G., Nichols, K. E., Nicolaides, T., Opocher, E., Osborn, M., Oshrine, B., Pearlman, R., Pettee, D., Rapp, J., Rashid, M., Reddy, A., Reichman, L., Remke, M., Robbins, G., Roy, S., Sabel, M., Samuel, D., Scheers, I., Schneider, K. W., Sen, S., Stearns, D., Sumerauer, D., Swallow, C., Taylor, L., Thomas, G., Toledano, H., Tomboc, P., Van Damme, A., Winer, I., Yalon, M., Yen, L. Y., Zapotocky, M., Zelcer, S., Ziegler, D. S., Zimmermann, S., Hawkins, C., Malkin, D., Bouffet, E., Villani, A. & Tabori, U., 01.09.2021, In: J CLIN ONCOL. 39, 25, p. 2779-2790 12 p.

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

  18. Therapeutic implications of improved molecular diagnostics for rare CNS-embryonal tumor entities: results of an international, retrospective study

    von Hoff, K., Haberler, C., Schmitt-Hoffner, F., Schepke, E., de Rojas, T., Jacobs, S., Zapotocky, M., Sumerauer, D., Perek-Polnik, M., Dufour, C., van Vuurden, D., Slavc, I., Gojo, J., Pickles, J. C., Gerber, N. U., Massimino, M., Gil-da-Costa, M. J., Garami, M., Kumirova, E., Sehested, A., Scheie, D., Cruz, O., Moreno, L., Cho, J., Zeller, B., Bovenschen, N., Grotzer, M., Alderete, D., Snuderl, M., Zheludkova, O., Golanov, A., Okonechnikov, K., Mynarek, M., Juhnke, B. O., Rutkowski, S., Schüller, U., Pizer, B., Zezschwitz, B. V., Kwiecien, R., Wechsung, M., Konietschke, F., Hwang, E. I., Sturm, D., Pfister, S. M., von Deimling, A., Rushing, E. J., Ryzhova, M., Hauser, P., Łastowska, M., Wesseling, P., Giangaspero, F., Hawkins, C., Figarella-Branger, D., Eberhart, C., Burger, P., Gessi, M., Korshunov, A., Jacques, T. S., Capper, D., Pietsch, T. & Kool, M., 01.09.2021, In: NEURO-ONCOLOGY. 23, 9, p. 1597-1611 15 p.

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

  19. Cross-Species Genomics Reveals Oncogenic Dependencies in ZFTA/C11orf95 Fusion-Positive Supratentorial Ependymomas

    Zheng, T., Ghasemi, D. R., Okonechnikov, K., Korshunov, A., Sill, M., Maass, K. K., Benites Goncalves da Silva, P., Ryzhova, M., Gojo, J., Stichel, D., Arabzade, A., Kupp, R., Benzel, J., Taya, S., Adachi, T., Shiraishi, R., Gerber, N. U., Sturm, D., Ecker, J., Sievers, P., Selt, F., Chapman, R., Haberler, C., Figarella-Branger, D., Reifenberger, G., Fleischhack, G., Rutkowski, S., Donson, A. M., Ramaswamy, V., Capper, D., Ellison, D. W., Herold-Mende, C. C., Schüller, U., Brandner, S., Driever, P. H., Kros, J. M., Snuderl, M., Milde, T., Grundy, R. G., Hoshino, M., Mack, S. C., Gilbertson, R. J., Jones, D. T. W., Kool, M., von Deimling, A., Pfister, S. M., Sahm, F., Kawauchi, D. & Pajtler, K. W., 09.2021, In: CANCER DISCOV. 11, 9, p. 2230-2247 18 p.

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

  20. Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

    Johannsen, J., Weiss, D., Daubmann, A., Schmitz, L. & Denecke, J., 09.2021, In: J CELL MOL MED. 25, 17, p. 8419-8431 13 p.

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

  21. Follow-up evaluation of a web-based pediatric brain tumor board in Latin America

    Rosabal-Obando, M., Osorio, D. S., Lassaletta, A., La Madrid, A. M., Bartels, U., Finlay, J. L., Qaddoumi, I., Rutkowski, S. & Mynarek, M., 09.2021, In: PEDIATR BLOOD CANCER. 68, 9, p. e29073

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

  22. Histopathological patterns in atypical teratoid/rhabdoid tumors are related to molecular subgroup.

    Zin, F., Cotter, J. A., Haberler, C., Dottermusch, M., Neumann, J., Schüller, U., Schweizer, L., Thomas, C., Nemes, K., Johann, P-D., Kool, M., Frühwald, M. C., Paulus, W., Judkins, A. R. & Hasselblatt, M., 09.2021, In: BRAIN PATHOL. 31, 5, p. e12967 e12967.

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

  23. Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

    Schoof, M., Kordes, U., Volk, A. E., Al-Kershi, S., Kresbach, C. & Schüller, U., 09.2021, In: ACTA NEUROPATHOL. 142, 3, p. 591-593 3 p.

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

  24. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

    Wortmann, S. B., Ziętkiewicz, S., Guerrero-Castillo, S., Feichtinger, R. G., Wagner, M., Russell, J., Ellaway, C., Mróz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stülpnagel, C., Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K. C., Lorsbach, R., Dale, R. C., Gersting, S., Prada, C. E., Christodoulou, J., Wolf, N. I., Venselaar, H., Mayr, J. A. & Wevers, R. A., 09.2021, In: GENET MED. 23, 9, p. 1705-1714 10 p.

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

  25. Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

    Brennenstuhl, H., Nashawi, M., Schröter, J., Baronio, F., Beedgen, L., Gleich, F., Jeltsch, K., von Landenberg, C., Martini, S., Simon, A., Thiel, C., Tsiakas, K., Opladen, T., Kölker, S., Hoffmann, G. F., Haas, D. & Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN), 09.2021, In: J INHERIT METAB DIS. 44, 5, p. 1272-1287 16 p.

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

  26. Referentenentwurf des Bundesministeriums für Gesundheit „Gesetz zur digitalen Modernisierung von Versorgung und Pflege“. Stellungnahme der Deutschen Gesellschaft für Hebammenwissenschaft e.V., Zeitschrift für Hebammenwissenschaft

    Agricola, C. J., 09.2021

    Research output: Memorandum/exposition › QA/hearings

  27. Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

    Burgmaier, K., Brinker, L., Erger, F., Beck, B., Benz, M., Bergmann, C., Boyer, O., Collard, L., Dafinger, C., Fila, M., Kowalewska, C., Lange-Sperandio, B., Massella, L., Mastrangelo, A., Mekahli, D., Miklaszewska, M., Ortiz-Bruechle, N., Patzer, L., Prikhodina, L., Ranchin, B., Ranguelov, N., Schild, R., Seeman, T., Sever, L., Sikora, P., Szczepanska, M., Teixeira, A., Thumfart, J., Uetz, B., Weber, L. T., Wühl, E., Zerres, K., ESCAPE Study Group, Dötsch, J., Schaefer, F. & Liebau, M. C., 09.2021, In: KIDNEY INT. 100, 3, p. 650-659 10 p.

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

  28. Re: Outcome-based comparison of SMFM and ISUOG definitions of fetal growth restriction

    Lees, C., Stampalija, T. & Hecher, K., 09.2021, In: ULTRASOUND OBST GYN. 58, 3, p. 493-494 2 p.

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

  29. SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type

    Andrianteranagna, M., Cyrta, J., Masliah-Planchon, J., Nemes, K., Corsia, A., Leruste, A., Holdhof, D., Kordes, U., Orbach, D., Corradini, N., Entz-Werle, N., Pierron, G., Castex, M-P., Brouchet, A., Weingertner, N., Ranchère, D., Fréneaux, P., Delattre, O., Bush, J., Leary, A., Frühwald, M. C., Schüller, U., Servant, N. & Bourdeaut, F., 09.2021, In: J PATHOL. 255, 1, p. 1-15 15 p.

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

  30. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies

    Gripp, K. W., Smithson, S. F., Scurr, I. J., Baptista, J., Majumdar, A., Pierre, G., Williams, M., Henderson, L. B., Wentzensen, I. M., McLaughlin, H., Leeuwen, L., Simon, M. E. H., van Binsbergen, E., Dinulos, M. B. P., Kaplan, J. D., McRae, A., Superti-Furga, A., Good, J-M. & Kutsche, K., 09.2021, In: EUR J HUM GENET. 29, 9, p. 1384-1395 12 p.

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

  31. In Spitzenzeiten Luft verschaffen

    Agricola, C. J. & Voß, M., 25.08.2021, In: Deutsche Hebammen Zeitschrift. 9

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

  32. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    El Ghaleb, Y., Schneeberger, P. E., Fernández-Quintero, M. L., Geisler, S. M., Pelizzari, S., Polstra, A. M., van Hagen, J. M., Denecke, J., Campiglio, M., Liedl, K. R., Stevens, C. A., Person, R. E., Rentas, S., Marsh, E. D., Conlin, L. K., Tuluc, P., Kutsche, K. & Flucher, B. E., 17.08.2021, In: BRAIN. 144, 7, p. 2092-2106 15 p.

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

  33. Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospective Analysis of 99 Patients

    Ammer, L. S., Dohrmann, T., Muschol, N. M., Lang, A., Breyer, S. R., Ozga, A-K. & Petzoldt, M., 10.08.2021, In: J CLIN MED. 10, 16, p. 3518

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

  34. Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS

    Baronciani, L., Peake, I., Schneppenheim, R., Goodeve, A., Ahmadinejad, M., Badiee, Z., Baghaipour, M-R., Benitez, O., Bodó, I., Budde, U., Cairo, A., Castaman, G., Eshghi, P., Goudemand, J., Hassenpflug, W., Hoorfar, H., Karimi, M., Keikhaei, B., Lassila, R., Leebeek, F. W. G., Lopez Fernandez, M. F., Mannucci, P. M., Marino, R., Nikšić, N., Oyen, F., Santoro, C., Tiede, A., Toogeh, G., Tosetto, A., Trossaert, M., Zetterberg, E. M. K., Eikenboom, J., Federici, A. B. & Peyvandi, F., 10.08.2021, In: BLOOD ADV. 5, 15, p. 2987-3001 15 p.

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

  35. Adults Born Preterm: Long-Term Health Risks of Former Very Low Birth Weight Infants

    Singer, D., Thiede, L. P. & Perez, A., 09.08.2021, In: DTSCH ARZTEBL INT. 118, 31-32, p. 521-527 7 p.

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

  36. A noncoding RNA modulator potentiates phenylalanine metabolism in mice

    Li, Y., Tan, Z., Zhang, Y., Zhang, Z., Hu, Q., Liang, K., Jun, Y., Ye, Y., Li, Y-C., Li, C., Liao, L., Xu, J., Xing, Z., Pan, Y., Chatterjee, S. S., Nguyen, T. K., Hsiao, H., Egranov, S. D., Putluri, N., Coarfa, C., Hawke, D. H., Gunaratne, P. H., Tsai, K-L., Han, L., Hung, M-C., Calin, G. A., Namour, F., Guéant, J-L., Muntau, A. C., Blau, N., Sutton, V. R., Schiff, M., Feillet, F., Zhang, S., Lin, C. & Yang, L., 06.08.2021, In: SCIENCE. 373, 6555, p. 662-673 12 p.

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

  37. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

    Duncan, A. R., Polovitskaya, M. M., Gaitán-Peñas, H., Bertelli, S., VanNoy, G. E., Grant, P. E., O'Donnell-Luria, A., Valivullah, Z., Lovgren, A. K., England, E. M., Agolini, E., Madden, J. A., Schmitz-Abe, K., Kritzer, A., Hawley, P., Novelli, A., Alfieri, P., Colafati, G. S., Wieczorek, D., Platzer, K., Luppe, J., Koch-Hogrebe, M., Abou Jamra, R., Neira-Fresneda, J., Lehman, A., Boerkoel, C. F., Seath, K., Clarke, L., CAUSES Study, van Ierland, Y., Argilli, E., Sherr, E. H., Maiorana, A., Diel, T., Hempel, M., Bierhals, T., Estévez, R., Jentsch, T. J., Pusch, M. & Agrawal, P. B., 05.08.2021, In: AM J HUM GENET. 108, 8, p. 1450-1465 16 p.

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

  38. 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

  39. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., Leuzzi, V., Sivri, H. S., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Lane, P., Alvarez, I. & Rutsch, F., 03.08.2021, In: ORPHANET J RARE DIS. 16, 1, p. 341

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

  40. Multi-Scale Input Strategies for Medulloblastoma Tumor Classification using Deep Transfer Learning

    Bengs, M., Pant, S., Bockmayr, M., Schüller, U. & Schlaefer, A., 01.08.2021, In: Current Directions in Biomedical Engineering. 7, 1, 20211115.

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

  41. Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

    Volk, A. E., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J., von Ameln, S., Lorenz, B., Neugebauer, A., Karsak, M. & Kubisch, C., 08.2021, In: HUM GENET. 140, 8, p. 1157-1168 12 p.

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

  42. Congenital disorders of glycosylation with defective fucosylation

    Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R. G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K. M., Santer, R., Herget, T., Rennings, A., Lefeber, D. J., Mayr, J. A., Thiel, C. & Wortmann, S. B., 08.2021, In: J INHERIT METAB DIS. 44, 6, p. 1441-1452 12 p.

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

  43. Differentiation between TTTS Stages I vs II and III vs IV does not affect probability of double survival after laser therapy

    Bamberg, C., Diehl, W., Diemert, A., Sehner, S. & Hecher, K., 08.2021, In: ULTRASOUND OBST GYN. 58, 2, p. 201-206 6 p.

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

  44. Effects of a structured counselling-based intervention to improve physical activity behaviour of adolescents and young adult cancer survivors - the randomized phase II Motivate AYA - MAYA trial

    Salchow, J., Koch, B., Mann, J., von Grundherr, J., Elmers, S., Dwinger, S., Escherich, G., Vettorazzi, E., Reer, R., Sinn, M., Baumann, F., Bokemeyer, C., Stein, A. & Jensen, W., 08.2021, In: CLIN REHABIL. 35, 8, p. 1164-1174 11 p.

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

  45. Efferocytosis fuels malignant pleural effusion through TIMP1

    Zhao, L., Giannou, A. D., Xu, Y., Shiri, A. M., Liebold, I., Steglich, B., Bedke, T., Zhang, T., Lücke, J., Scognamiglio, P., Kempski, J., Woestemeier, A., Chen, J., Agalioti, T., Zazara, D. E., Lindner, D., Janning, M., Hennigs, J. K., Jagirdar, R. M., Kotsiou, O. S., Zarogiannis, S. G., Kobayashi, Y., Izbicki, J. R., Ghosh, S., Rothlin, C. V., Bosurgi, L., Huber, S. & Gagliani, N., 08.2021, In: SCI ADV. 7, 33, eabd6734.

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

  46. Genome sequencing in families with congenital limb malformations

    Elsner, J., Mensah, M. A., Holtgrewe, M., Hertzberg, J., Bigoni, S., Busche, A., Coutelier, M., de Silva, D. C., Elçioglu, N., Filges, I., Gerkes, E., Girisha, K. M., Graul-Neumann, L., Jamsheer, A., Krawitz, P., Kurth, I., Markus, S., Megarbane, A., Reis, A., Reuter, M. S., Svoboda, D., Teller, C., Tuysuz, B., Türkmen, S., Wilson, M., Woitschach, R., Vater, I., Caliebe, A., Hülsemann, W., Horn, D., Mundlos, S. & Spielmann, M., 08.2021, In: HUM GENET. 140, 8, p. 1229-1239 11 p.

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

  47. Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors

    Pathak, R., Zin, F., Thomas, C., Bens, S., Gayden, T., Karamchandani, J., Dudley, R. W., Nemes, K., Johann, P. D., Oyen, F., Kordes, U., Jabado, N., Siebert, R., Paulus, W., Kool, M., Frühwald, M. C., Albrecht, S., Kalpana, G. V. & Hasselblatt, M., 08.2021, In: ACTA NEUROPATHOL. 142, 2, p. 361-374 14 p.

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

  48. Pretreatment central quality control for craniospinal irradiation in non-metastatic medulloblastoma: First experiences of the German radiotherapy quality control panel in the SIOP PNET5 MB trial

    Dietzsch, S., Braesigk, A., Seidel, C., Remmele, J., Kitzing, R., Schlender, T., Mynarek, M., Geismar, D., Jablonska, K., Schwarz, R., Pazos, M., Walser, M., Frick, S., Gurtner, K., Matuschek, C., Harrabi, S. B., Glück, A., Lewitzki, V., Dieckmann, K., Benesch, M., Gerber, N. U., Rutkowski, S., Timmermann, B. & Kortmann, R-D., 08.2021, In: STRAHLENTHER ONKOL. 197, 8, p. 674-682 9 p.

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

  49. Screening, Management and Delivery in Twin Pregnancy

    von Kaisenberg, C., Klaritsch, P., Ochsenbein-Kölble, N., Hodel, M. E., Nothacker, M. & Hecher, K., 08.2021, In: ULTRASCHALL MED. 42, 4, p. 367-378 12 p.

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

  50. Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor

    Thomas, C., Oehl-Huber, K., Bens, S., Soschinski, P., Koch, A., Nemes, K., Oyen, F., Kordes, U., Kool, M., Frühwald, M. C., Hasselblatt, M. & Siebert, R., 08.2021, In: GENE CHROMOSOME CANC. 60, 8, p. 586-590 5 p.

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

  51. Traumatic Gallbladder Perforation in Children - Case Report and Review

    Le, M. T. P., Herrmann, J., Groth, M., Reinshagen, K. & Boettcher, M., 08.2021, In: ROFO-FORTSCHR RONTG. 193, 8, p. 889-897 9 p.

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

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