Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2019

  2. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

    Bauer, C. K., Schneeberger, P. E., Kortüm, F., Altmüller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S. M., Campeau, P. M., Gripp, K. W. & Kutsche, K., 06.06.2019, In: AM J HUM GENET. 104, 6, p. 1139-1157 19 p.

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

  3. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults

    La Rosée, P., Horne, A., Hines, M., von Bahr Greenwood, T., Machowicz, R., Berliner, N., Birndt, S., Gil-Herrera, J., Girschikofsky, M., Jordan, M. B., Kumar, A., van Laar, J. A. M., Lachmann, G., Nichols, K. E., Ramanan, A. V., Wang, Y., Wang, Z., Janka, G. & Henter, J-I., 06.06.2019, In: BLOOD. 133, 23, p. 2465-2477 13 p.

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

  4. PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles

    Fischer, A. W., Albers, K., Schlein, C., Sass, F., Krott, L. M., Schmale, H., Gordts, P. L. S. M., Scheja, L. & Heeren, J., 01.06.2019, In: BBA-MOL BASIS DIS. 1865, 6, p. 1592-1603 12 p.

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

  5. Acute dialysis in children: Results of a European Survey.

    Guzzo, I., de Galasso, L., Mir, S., Bulut, I. K., Jankauskiene, A., Burokiene, V., Cvetkovic, M., Kostic, M., Bayazit, A. K., Yildizdas, D., Schmitt, C. P., Paglialonga, F., Montini, G., Yilmaz, E., Oh, J., Weber, L., Taylan, C., Hayes, W., Shroff, R., Vidal, E., Murer, L., Mencarelli, F., Pasini, A., Teixeira, A., Afonso, A. C., Drozdz, D., Schaefer, F., Picca, S. & ESCAPE Network, 06.2019, In: J NEPHROL. 32, 3, p. 445-451 7 p.

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

  6. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

    Kloth, K., Bierhals, T., Johannsen, J., Harms, F. L., Juusola, J., Johnson, M. C., Grange, D. K. & Kutsche, K., 06.2019, In: HUM GENET. 138, 6, p. 625-634 10 p.

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

  7. Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y

    Godel, T., Bäumer, P., Stumpfe, K., Muschol, N., Kronlage, M., Brunnée, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 06.2019, In: J NEUROL. 266, 6, p. 1332-1339 8 p.

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

  8. Epidemiology of and Risk Factors for BK Polyomavirus Replication and Nephropathy in Pediatric Renal Transplant Recipients: An International CERTAIN Registry Study

    Höcker, B., Schneble, L., Murer, L., Carraro, A., Pape, L., Kranz, B., Oh, J., Zirngibl, M., Dello Strologo, L., Büscher, A., Weber, L. T., Awan, A., Pohl, M., Bald, M., Printza, N., Rusai, K., Peruzzi, L., Topaloglu, R., Fichtner, A., Krupka, K., Köster, L., Bruckner, T., Schnitzler, P., Hirsch, H. H. & Tönshoff, B., 06.2019, In: TRANSPLANTATION. 103, 6, p. 1224-1233 10 p.

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

  9. HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.

    Okorn, C., Goertz, A., Vester, U., Beck, B. B., Bergmann, C., Habbig, S., König, J., Konrad, M., Müller, D., Oh, J., Ortiz-Brüchle, N., Patzer, L., Schild, R., Seeman, T., Staude, H., Thumfart, J., Tönshoff, B., Walden, U., Weber, L., Zaniew, M., Zappel, H., Hoyer, P. F. & Weber, S., 06.2019, In: PEDIATR NEPHROL. 34, 6, p. 1065-1075 11 p.

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

  10. Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone

    Cook, A., Boesch, S., Heck, S., Brunt, E., Klockgether, T., Schöls, L., Schulz, A. & Giunti, P., 06.2019, In: ACTA NEUROL SCAND. 139, 6, p. 533-539 7 p.

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

  11. Rare mature B-cell lymphomas in children and adolescents

    Woessmann, W. & Quintanilla-Martinez, L., 06.2019, In: HEMATOL ONCOL. 37 Suppl 1, p. 53-61 9 p.

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

  12. Relapse of a group 4 medulloblastoma after 18 years as proven by histology and DNA methylation profiling

    Ricklefs, F. L., Fritzsche, F., Winkler, B., Meissner, B., Dührsen, L., Westphal, M., Rutkowski, S., Martens, T. & Schüller, U., 06.2019, In: CHILD NERV SYST. 35, 6, p. 1029-1033 5 p.

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

  13. Rescue Nuss procedure for inferior vena cava compression syndrome following posterior scoliosis surgery in Marfan syndrome

    Löhnhardt, M., Hättich, A., Andresen, A., Stangenberg, M., Mir, T. S., Reinshagen, K. & Dreimann, M., 06.2019, In: EUR SPINE J. 28, Suppl 2, p. 31-36 6 p.

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

  14. Role of fetal intertwin difference in middle cerebral artery peak systolic velocity in predicting neonatal twin anemia-polycythemia sequence

    Tavares de Sousa, M., Fonseca, A. & Hecher, K., 06.2019, In: ULTRASOUND OBST GYN. 53, 6, p. 794-797 4 p.

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

  15. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

    Kim, J-H., Park, E. Y., Chitayat, D., Stachura, D. L., Schaper, J., Lindstrom, K., Jewett, T., Wieczorek, D., Draaisma, J. M., Sinnema, M., Hoeberigs, C., Hempel, M., Bachman, K. K., Seeley, A. H., Stone, J. K., Kong, H. K., Vukadin, L., Richard, A., Shinde, D. N., McWalter, K., Si, Y. C., Douglas, G., Lim, S-T., Vissers, L. E. L. M., Lemaire, M. & Ahn, E-Y. E., 06.2019, In: KIDNEY INT. 95, 6, p. 1494-1504 11 p.

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

  16. The Hepatic Microenvironment and TRAIL-R2 Impact Outgrowth of Liver Metastases in Pancreatic Cancer after Surgical Resection

    Miarka, L., Hauser, C., Helm, O., Holdhof, D., Beckinger, S., Egberts, J-H., Gundlach, J-P., Lenk, L., Rahn, S., Mikulits, W., Trauzold, A. & Sebens, S., 29.05.2019, In: CANCERS. 11, 6

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

  17. Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis

    Burkhalter, M. D., Sridhar, A., Sampaio, P., Jacinto, R., Burczyk, M. S., Donow, C., Angenendt, M., Competence Network for Congenital Heart Defects Investigators, Hempel, M., Walther, P., Pennekamp, P., Omran, H., Lopes, S. S., Ware, S. M. & Philipp, M., 16.05.2019, In: J CLIN INVEST. 129, 7, p. 2841-2855 15 p.

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

  18. EZH2 Inhibition in Ewing Sarcoma Upregulates G Expression for Targeting with Gene-Modified T Cells

    Kailayangiri, S., Altvater, B., Lesch, S., Balbach, S., Göttlich, C., Kühnemundt, J., Mikesch, J-H., Schelhaas, S., Jamitzky, S., Meltzer, J., Farwick, N., Greune, L., Fluegge, M., Kerl, K., Lode, H. N., Siebert, N., Müller, I., Walles, H., Hartmann, W. & Rossig, C., 08.05.2019, In: MOL THER. 27, 5, p. 933-946 14 p.

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

  19. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    Snijders Blok, L., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Brilstra, E. H., Monroe, G. R., van Gassen, K. L. I., van Binsbergen, E., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S. B., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., DDD Study, Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faivre, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E. & Campeau, P. M., 02.05.2019, In: NAT COMMUN. 10, 1, p. 2079

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

  20. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

    Muschol, N. M., Pape, D., Kossow, K., Ullrich, K., Arash-Kaps, L., Hennermann, J. B., Stücker, R. & Breyer, S., 02.05.2019, In: ORPHANET J RARE DIS. 14, 1, p. 93

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

  21. Targeting APLN/APLNR improves anti-angiogenic efficiency and blunts pro-invasive side effects of VEGFA/VEGFR2-blockade in glioblastoma

    Mastrella, G., Hou, M., Li, M., Stoecklein, V. M., Zdouc, N., Volmar, M. N. M., Miletic, H., Reinhard, S., Herold-Mende, C. C., Kleber, S., Eisenhut, K., Gargiulo, G., Synowitz, M., Vescovi, A. L., Harter, P. N., Penninger, J. M., Wagner, E., Mittelbronn, M., Bjerkvig, R., Hambardzumyan, D., Schüller, U., Tonn, J-C., Radke, J., Glass, R. & Kälin, R. E., 01.05.2019, In: CANCER RES. 79, 9, p. 2298-2313 16 p.

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

  22. Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

    Pilotto, A., Blau, N., Leks, E., Schulte, C., Deuschl, C., Zipser, C., Piel, D., Freisinger, P., Gramer, G., Kölker, S., Haas, D., Burgard, P., Nawroth, P., Georg, H., Scheffler, K., Berg, D. & Trefz, F., 05.2019, In: J INHERIT METAB DIS. 42, 3, p. 398-406 9 p.

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

  23. Dynamic fetal cardiac magnetic resonance imaging in four-chamber view using Doppler ultrasound gating in normal fetal heart and in congenital heart disease

    Tavares de Sousa, M., Hecher, K., Yamamura, J., Kording, F., Ruprecht, C., Fehrs, K., Behzadi, C., Adam, G. & Schoennagel, B. P., 05.2019, In: ULTRASOUND OBST GYN. 53, 5, p. 669-675 7 p.

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

  24. Genome-wide association analysis suggests novel loci for Hashimoto's thyroiditis

    Brčić, L., Barić, A., Gračan, S., Brekalo, M., Kaličanin, D., Gunjača, I., Torlak Lovrić, V., Tokić, S., Radman, M., Škrabić, V., Miljković, A., Kolčić, I., Štefanić, M., Glavaš-Obrovac, L., Lessel, D., Polašek, O., Zemunik, T., Barbalić, M., Punda, A. & Boraska Perica, V., 05.2019, In: J ENDOCRINOL INVEST. 42, 5, p. 567-576 10 p.

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

  25. IKZF1 Deletions with COBL Breakpoints Are Not Driven by RAG-Mediated Recombination Events in Acute Lymphoblastic Leukemia

    Lopes, B. A., Meyer, C., Barbosa, T. C., Poubel, C. P., Mansur, M. B., Duployez, N., Bashton, M., Harrison, C. J., Zur Stadt, U., Horstmann, M., Pombo-de-Oliveira, M. S., Palmi, C., Cazzaniga, G., Venn, N. C., Sutton, R., Alonso, C. N., Tsaur, G., Gupta, S. K., Bakhshi, S., Marschalek, R. & Emerenciano, M., 05.2019, In: TRANSL ONCOL. 12, 5, p. 726-732 7 p.

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

  26. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Muntau, A. C., Adams, D. J., Bélanger-Quintana, A., Bushueva, T. V., Cerone, R., Chien, Y-H., Chiesa, A., Coşkun, T., de Las Heras, J., Feillet, F., Katz, R., Lagler, F., Piazzon, F., Rohr, F., van Spronsen, F. J., Vargas, P., Wilcox, G. & Bhattacharya, K., 05.2019, In: MOL GENET METAB. 127, 1, p. 1-11 11 p.

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

  27. 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

  28. Nestin progenitor cells isolated from adult human sweat gland stroma promote reepithelialisation and may stimulate angiogenesis in wounded human skin ex vivo

    Liao, T., Lehmann, J., Sternstein, S., Yay, A., Zhang, G., Matthießen, A. E., Schumann, S., Siemers, F., Kruse, C., Hundt, J. E., Langan, E. A., Tiede, S. & Paus, R., 05.2019, In: ARCH DERMATOL RES. 311, 4, p. 325-330 6 p.

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

  29. New options of cancer treatment employing InsP6

    Brehm, M. A. & Windhorst, S., 05.2019, In: BIOCHEM PHARMACOL. 163, p. 206-214 9 p.

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

  30. Nimotuzumab and radiotherapy for treatment of newly diagnosed diffuse intrinsic pontine glioma (DIPG): a phase III clinical study

    Fleischhack, G., Massimino, M., Warmuth-Metz, M., Khuhlaeva, E., Janssen, G., Graf, N., Rutkowski, S., Beilken, A., Schmid, I., Biassoni, V., Gorelishev, S. K., Kramm, C., Reinhard, H., Schlegel, P. G., Kortmann, R-D., Reuter, D., Bach, F., Iznaga-Escobar, N. E. & Bode, U., 05.2019, In: J NEURO-ONCOL. 143, 1, p. 107-113 7 p.

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

  31. Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA

    Hou, Y., Pinheiro, J., Sahm, F., Reuss, D. E., Schrimpf, D., Stichel, D., Casalini, B., Koelsche, C., Sievers, P., Wefers, A. K., Reinhardt, A., Ebrahimi, A., Fernández-Klett, F., Pusch, S., Meier, J., Schweizer, L., Paulus, W., Prinz, M., Hartmann, C., Plate, K. H., Reifenberger, G., Pietsch, T., Varlet, P., Pagès, M., Schüller, U., Scheie, D., de Stricker, K., Frank, S., Hench, J., Pollo, B., Brandner, S., Unterberg, A., Pfister, S. M., Jones, D. T. W., Korshunov, A., Wick, W., Capper, D., Blümcke, I., von Deimling, A. & Bertero, L., 05.2019, In: ACTA NEUROPATHOL. 137, 5, p. 837-846 10 p.

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

  32. Predictive factors associated with ventriculoperitoneal shunting after posterior fossa tumor surgery in children

    Helmbold, L. J., Kammler, G., Regelsberger, J., Fritzsche, F. S., Emami, P., Schüller, U. & Krajewski, K., 05.2019, In: CHILD NERV SYST. 35, 5, p. 779-788 10 p.

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

  33. Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

    Thomas, C., Knerlich-Lukoschus, F., Reinhard, H., Johann, P. D., Sturm, D., Sahm, F., Bens, S., Vogt, J., Nemes, K., Oyen, F., Kordes, U., Siebert, R., Schneppenheim, R., Messing-Jünger, M., Pietsch, T., von Deimling, A., Paulus, W., Pfister, S. M., Kool, M., Frühwald, M. C. & Hasselblatt, M., 05.2019, In: ACTA NEUROPATHOL. 137, 5, p. 847-850 4 p.

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

  34. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

    Lukacs, Z., Nickel, M., Murko, S., Nieves Cobos, P., Schulz, A., Santer, R. & Kohlschütter, A., 05.2019, In: CLIN CHIM ACTA. 492, p. 69-71 3 p.

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

  35. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

    Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horváth, J., Niederacher, D., Arnold, N., Kaulfuß, S., Ernst, C., Paul, V. G., Honisch, E., Klaschik, K., Volk, A. E., Kubisch, C., Rapp, S., Lichey, N., Altmüller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nürnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R. K., Hahnen, E. & Hauke, J., 29.04.2019, In: BREAST CANCER RES. 21, 1, p. 55

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

  36. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

    Kloth, K., Synofzik, M., Kernstock, C., Schimpf-Linzenbold, S., Schuettauf, F., Neu, A., Wissinger, B. & Weisschuh, N., 08.04.2019, In: BMC MED GENET. 20, 1, p. 62

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

  37. The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

    Marbach, F., Rustad, C. F., Riess, A., Đukić, D., Hsieh, T-C., Jobani, I., Prescott, T., Bevot, A., Erger, F., Houge, G., Redfors, M., Altmueller, J., Stokowy, T., Gilissen, C., Kubisch, C., Scarano, E., Mazzanti, L., Fiskerstrand, T., Krawitz, P. M., Lessel, D. & Netzer, C., 04.04.2019, In: AM J HUM GENET. 104, 4, p. 749-757 9 p.

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

  38. Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors

    AlDubayan, S. H., Pyle, L. C., Gamulin, M., Kulis, T., Moore, N. D., Taylor-Weiner, A., Hamid, A. A., Reardon, B., Wubbenhorst, B., Godse, R., Vaughn, D. J., Jacobs, L. A., Meien, S., Grgic, M., Kastelan, Z., Markt, S. C., Damrauer, S. M., Rader, D. J., Kember, R. L., Loud, J. T., Kanetsky, P. A., Greene, M. H., Sweeney, C. J., Kubisch, C., Nathanson, K. L., Van Allen, E. M., Stewart, D. R., Lessel, D. & Regeneron Genetics Center (RGC) Research Team, 01.04.2019, In: JAMA ONCOL. 5, 4, p. 514-522 9 p.

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

  39. Comparative analysis of high field MRI and histology for ex vivo whole organ imaging: assessment of placental functional morphology in a murine model

    Remus, C. C., Solano, E., Ernst, T., Thieme, R., Hecher, K., Adam, G. & Arck, P., 04.2019, In: MAGN RESON MATER PHY. 32, 2, p. 197-204 8 p.

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

  40. Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

    Kohlschütter, A., Schulz, A., Bartsch, U. & Storch, S., 04.2019, In: CNS DRUGS. 33, 4, p. 315-325 11 p.

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

  41. 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., Li, D., 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., DDD Study, Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V. A. & Newbury-Ecob, R., 04.2019, In: GENET MED. 21, 4, p. 850-860 11 p.

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

  42. Nanobody-targeting of epidermal growth factor receptor (EGFR) ectodomain variants overcomes resistance to therapeutic EGFR antibodies

    Tintelnot, J., Baum, N., Schultheiss, C., Braig, F., Trentmann, M., Finter, J., Fumey, W., Bannas, P., Fehse, B., Riecken, K., Schütze, K., Bokemeyer, C., Rösner, T., Valerius, T., Peipp, M., Koch-Nolte, F. & Binder, M., 04.2019, In: MOL CANCER THER. 18, 4, p. 823-833 11 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. When 3 Rs meet a forth R: Replacement, reduction and refinement of animals in research on reproduction

    Arck, P. C., 04.2019, In: J REPROD IMMUNOL. 132, p. 54-59 6 p.

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

  45. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

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

  46. A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis

    Chellapandian, D., Hines, M. R., Zhang, R., Jeng, M., van den Bos, C., Santa-María López, V., Lehmberg, K., Sieni, E., Wang, Y., Nakano, T., Williams, J. A., Fustino, N. J., Astigarraga, I., Dunkel, I. J., Abla, O., van Halteren, A. G. S., Pei, D., Cheng, C., Weitzman, S., Sung, L. & Nichols, K. E., 15.03.2019, In: CANCER-AM CANCER SOC. 125, 6, p. 963-971 9 p.

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

  47. Copy number alterations in B-cell development genes, drug resistance, and clinical outcome in pediatric B-cell precursor acute lymphoblastic leukemia

    Steeghs, E. M. P., Boer, J. M., Hoogkamer, A. Q., Boeree, A., de Haas, V., de Groot-Kruseman, H. A., Horstmann, M. A., Escherich, G., Pieters, R. & den Boer, M. L., 15.03.2019, In: SCI REP-UK. 9, 1, p. 4634

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

  48. Developmental origin and sex-specific risk for infections and immune diseases later in life

    Zazara, D. E. & Arck, P. C., 01.03.2019, In: SEMIN IMMUNOPATHOL. 41, 2, p. 137-151 15 p.

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

  49. CD38 is not expressed in pediatric ALK-positive anaplastic large cell lymphoma

    Au-Yeung, R. K. H., Burkhardt, B., Woessmann, W. & Klapper, W., 03.2019, In: PEDIATR BLOOD CANCER. 66, 3, p. e27541

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

  50. Characterization of VWF gene conversions causing von Willebrand disease

    Ahmad, F., Kannan, M., Obser, T., Budde, U., Schneppenheim, S., Saxena, R. & Schneppenheim, R., 03.2019, In: BRIT J HAEMATOL. 184, 5, p. 817-825 9 p.

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

  51. Degradation of Extracellular DNA Significantly Ameliorates Necrotizing Enterocolitis Severity in Mice

    Klinke, M., Vincent, D., Trochimiuk, M., Appl, B., Tiemann, B., Bergholz, R., Reinshagen, K. & Boettcher, M., 03.2019, In: J SURG RES. 235, p. 513-520 8 p.

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

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