Center for Obstetrics and Pediatrics
Publications
- 2024
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
Burton, B. K., Clague, G. E., Harding, C. O., Kucuksayrac, E., Levy, D. G., Lindstrom, K., Longo, N., Maillot, F., Muntau, A. C., Rutsch, F. & Zori, R. T., 01.2024, In: MOL GENET METAB. 141, 1, p. 108114Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Management of phenylketonuria in European PKU centres remains heterogeneous
Kirsten, A., Amaya, B-Q., Alberto, B., Maria, G., Francois, M., Ania, M., Anne, R. & Anita, M., 01.2024, In: MOL GENET METAB. 141, 1, p. 108120Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
Schulz, A., Specchio, N., de Los Reyes, E., Gissen, P., Nickel, M., Trivisano, M., Aylward, S. C., Chakrapani, A., Schwering, C., Wibbeler, E., Westermann, L. M., Ballon, D. J., Dyke, J. P., Cherukuri, A., Bondade, S., Slasor, P. & Cohen Pfeffer, J., 01.2024, In: LANCET NEUROL. 23, 1, p. 60-70 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
Zang, J., Witt, S., Johannsen, J., Weiss, D., Denecke, J., Dumitrascu, C., Nießen, A., Quitmann, J. H., Pflug, C. & Flügel, T., 2024, In: J NEUROMUSCULAR DIS. 11, 2, p. 473-483 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Pfrimmer, C., Smitka, M., Muschol, N., Husain, R. A., Huemer, M., Hennermann, J. B., Schuler, R. & Hahn, A., 2024, In: J NEUROMUSCULAR DIS. 11, 1, p. 167-177 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Multimodal image-guided laser ablation system for precise 3D tissue sampling and subsequent analysis of biomolecules for cancer research
Hahn, J., Moritz, M., Walter, A., Wieck, T., Moustafa, A., Mansour, W. Y., Harms, C., Stenzel, P., Heeren, J., Haider, M-T., Lange, T. & Schlüter, H., 2024, Imaging, Manipulation, and Analysis of Biomolecules, Cells, and Tissues XXII: 29-31 January 2024, San Francisco, California, United States. Tárnok, A. & Houston, J. P. (eds.). 1 ed. Bellingham, Washington: SPIE , 128460C. (Proceedings of SPIE; vol. 12846).Research output: SCORING: Contribution to book/anthology › Conference contribution - Article for conference › Research › peer-review
Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry’s disease
Lund, N., Wieboldt, H., Fischer, L., Muschol, N. M., Braun, F., Huber, T., Sorriento, D., Iaccarino, G., Muellerleile, K., Tahir, E., Adam, G., Kirchhof, P., Fabritz, L. & Patten, M., 2024, In: FRONT CARDIOVASC MED. 11, 11, p. 1355033 1355033.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Overview of current European practice for the management of patients with intracranial germ cell tumours
Diezi, M., Pizer, B., Murray, M. J. & SIOP-Europe Brain Tumour Group - Central Nervous System (CNS) Germ Cell Tumour (GCT) Subgroup, 2024, In: EJC Paediatric Oncology. 3, 100146.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sturz vom Wickeltisch: Besonderheiten, die zu beachten sind
Lange, M., Kramer, S., Voll, C. & Corbacioglu, S., 2024, In: MONATSSCHR KINDERH.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Suizidhilfe durch Ärzt*innen - zwischen Dürfen, Können und Sollen
Winkler, B., 2024, Ethik des assistierten Suizids: Autonomien, Vulnerabilitäten, Ambivalenzen. Bozzaro, C., Richter, G. & Rehmann-Sutter, C. (eds.). 1 ed. Bielefeld: transcript Verlag, Vol. Band 5. p. 59-71 12 p. (Bioethik / Medizinethik).Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
Twinning to reduce research and innovation inequalities in paediatric solid tumours across Europe
Rascon, J., Blackute, R., Cerkauskiene, A., Taschner-Mandl, S., Andrade, N., Planinic, A., Rutkowski, S., Schüller, U., Nysom, K., Tuckuviene, R., Brok, J., Schmiegelow, K., van den Heuvel-Eibrink, M. M., van der Perk, M. E. M., Haupt, R., Muraca, M., Saraceno, D., Geoerger, B., Manuzi, G. & Ladenstein, R., 2024, In: EJC Paediatric Oncology. 3, 100153.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2023
Nirsevimab for Prevention of Hospitalizations Due to RSV in Infants
Drysdale, S. B., Cathie, K., Flamein, F., Knuf, M., Collins, A. M., Hill, H. C., Kaiser, F., Cohen, R., Pinquier, D., Felter, C. T., Vassilouthis, N. C., Jin, J., Bangert, M., Mari, K., Nteene, R., Wague, S., Roberts, M., Tissières, P., Royal, S., Faust, S. N. & HARMONIE Study Group, 28.12.2023, In: NEW ENGL J MED. 389, 26, p. 2425-2435 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
Wagner, J. N., Al-Bazaz, M., Forstreuter, A., Hammada, M. I., Hille, J., Papingi, D., Bokemeyer, C. & Fiedler, W., 27.12.2023, In: BIOMEDICINES. 12, 1, 64.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Neutrophil extracellular traps and DNases orchestrate formation of peritoneal adhesions
Elrod, J., Heuer, A., Knopf, J., Schoen, J., Schönfeld, L., Trochimiuk, M., Stiel, C., Appl, B., Raluy, L. P., Saygi, C., Zlatar, L., Hosari, S., Royzman, D., Winkler, T. H., Lochnit, G., Leppkes, M., Grützmann, R., Schett, G., Tomuschat, C., Reinshagen, K., Herrmann, M., Fuchs, T. A. & Boettcher, M., 15.12.2023, In: ISCIENCE. 26, 12, 108289.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Protocol for orthotopic single-lung transplantation in mice as a tool for lung metastasis studies
Giannou, A. D., Ohm, B., Zazara, D. E., Lücke, J., Zhang, T., Sabihi, M., Seeger, P., Oh, J., Grotelüschen, R., Busch, P., Mann, O., Hackert, T., Izbicki, J. R., Yamada, Y., Huber, S. & Jungraithmayr, W., 15.12.2023, In: STAR PROTOC. 4, 4, p. 102701Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome
Kolodziejczak, A. S., Guerrini-Rousseau, L., Planchon, J. M., Ecker, J., Selt, F., Mynarek, M., Obrecht, D., Sill, M., Autry, R. J., Zhao, E., Hirsch, S., Amouyal, E., Dufour, C., Ayrault, O., Torrejon, J., Waszak, S. M., Ramaswamy, V., Pentikainen, V., Demir, H. A., Clifford, S. C., Schwalbe, E. C., Massimi, L., Snuderl, M., Galbraith, K., Karajannis, M. A., Hill, K., Li, B. K., Walsh, M., White, C. L., Redmond, S., Loizos, L., Jakob, M., Kordes, U. R., Schmid, I., Hauer, J., Blattmann, C., Filippidou, M., Piccolo, G., Scheurlen, W., Farrag, A., Grund, K., Sutter, C., Pietsch, T., Frank, S., Schewe, D. M., Malkin, D., Ben-Arush, M., Sehested, A., Wong, T-T., Wu, K-S., Liu, Y-L., Carceller, F., Mueller, S., Stoller, S., Taylor, M. D., Tabori, U., Bouffet, E., Kool, M., Sahm, F., von Deimling, A., Korshunov, A., von Hoff, K., Kratz, C. P., Sturm, D., Jones, D. T. W., Rutkowski, S., van Tilburg, C. M., Witt, O., Bougeard, G., Pajtler, K. W., Pfister, S. M., Bourdeaut, F. & Milde, T., 08.12.2023, In: NEURO-ONCOLOGY. 25, 12, p. 2273-2286 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Gardin, A., Ruiz, M., Beime, J., Cananzi, M., Rathert, M., Rohmer, B., Grabhorn, E., Almes, M., Logarajah, V., Peña-Quintana, L., Casswall, T., Darmellah-Remil, A., Reyes-Domínguez, A., Barkaoui, E., Hierro, L., Baquero-Montoya, C., Baumann, U., Fischler, B., Gonzales, E., Davit-Spraul, A., Laplanche, S. & Jacquemin, E., 07.12.2023, In: ORPHANET J RARE DIS. 18, 1, p. 383Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Wang, A., Shen, J., Rodriguez, A. A., Saunders, E. J., Chen, F., Janivara, R., Darst, B. F., Sheng, X., Xu, Y., Chou, A. J., Benlloch, S., Dadaev, T., Brook, M. N., Plym, A., Sahimi, A., Hoffman, T. J., Takahashi, A., Matsuda, K., Momozawa, Y., Fujita, M., Laisk, T., Figuerêdo, J., Muir, K., Ito, S., Liu, X., Uchio, Y., Kubo, M., Kamatani, Y., Lophatananon, A., Wan, P., Andrews, C., Lori, A., Choudhury, P. P., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Giles, G. G., Southey, M. C., MacInnis, R. J., Cybulski, C., Wokolorczyk, D., Lubinski, J., Rentsch, C. T., Cho, K., Mcmahon, B. H., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bojesen, S. E., Røder, A., Stroomberg, H. V., Batra, J., Chambers, S., Horvath, L., Clements, J. A., Tilly, W., Risbridger, G. P., Gronberg, H., Aly, M., Szulkin, R., Eklund, M., Nordstrom, T., Pashayan, N., Dunning, A. M., Ghoussaini, M., Travis, R. C., Key, T. J., Riboli, E., Park, J. Y., Sellers, T. A., Lin, H-Y., Albanes, D., Weinstein, S., Cook, M. B., Mucci, L. A., Giovannucci, E., Lindstrom, S., Kraft, P., Hunter, D. J., Penney, K. L., Turman, C., Tangen, C. M., Goodman, P. J., Thompson, I. M., Hamilton, R. J., Fleshner, N. E., Finelli, A., Parent, M-É., Stanford, J. L., Ostrander, E. A., Koutros, S., Beane Freeman, L. E., Stampfer, M., Wolk, A., Håkansson, N., Andriole, G. L., Hoover, R. N., Machiela, M. J., Sørensen, K. D., Borre, M., Blot, W. J., Zheng, W., Yeboah, E. D., Mensah, J. E., Lu, Y-J., Zhang, H-W., Feng, N., Mao, X., Wu, Y., Zhao, S-C., Sun, Z., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., West, C. M. L., Barnett, G., Maier, C., Schnoeller, T., Luedeke, M., Kibel, A. S., Drake, B. F., Cussenot, O., Cancel-Tassin, G., Menegaux, F., Truong, T., Koudou, Y. A., John, E. M., Grindedal, E. M., Maehle, L., Khaw, K-T., Ingles, S. A., Stern, M. C., Vega, A., Gómez-Caamaño, A., Fachal, L., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Teixeira, M. R., Paulo, P., Brandão, A., Watya, S., Lubwama, A., Bensen, J. T., Butler, E. N., Mohler, J. L., Taylor, J. A., Kogevinas, M., Dierssen-Sotos, T., Castaño-Vinyals, G., Cannon-Albright, L., Teerlink, C. C., Huff, C. D., Pilie, P., Yu, Y., Bohlender, R. J., Gu, J., Strom, S. S., Multigner, L., Blanchet, P., Brureau, L., Kaneva, R., Slavov, C., Mitev, V., Leach, R. J., Brenner, H., Chen, X., Holleczek, B., Schöttker, B., Klein, E. A., Hsing, A. W., Kittles, R. A., Murphy, A. B., Logothetis, C. J., Kim, J., Neuhausen, S. L., Steele, L., Ding, Y. C., Isaacs, W. B., Nemesure, B., Hennis, A. J. M., Carpten, J., Pandha, H., Michael, A., De Ruyck, K., De Meerleer, G., Ost, P., Xu, J., Razack, A., Lim, J., Teo, S-H., Newcomb, L. F., Lin, D. W., Fowke, J. H., Neslund-Dudas, C. M., Rybicki, B. A., Gamulin, M., Lessel, D., Kulis, T., Usmani, N., Abraham, A., Singhal, S., Parliament, M., Claessens, F., Joniau, S., Van den Broeck, T., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Bush, W. S., Aldrich, M. C., Crawford, D. C., Srivastava, S., Cullen, J., Petrovics, G., Casey, G., Wang, Y., Tettey, Y., Lachance, J., Tang, W., Biritwum, R. B., Adjei, A. A., Tay, E., Truelove, A., Niwa, S., Yamoah, K., Govindasami, K., Chokkalingam, A. P., Keaton, J. M., Hellwege, J. N., Clark, P. E., Jalloh, M., Gueye, S. M., Niang, L., Ogunbiyi, O., Shittu, O., Amodu, O., Adebiyi, A. O., Aisuodionoe-Shadrach, O. I., Ajibola, H. O., Jamda, M. A., Oluwole, O. P., Nwegbu, M., Adusei, B., Mante, S., Darkwa-Abrahams, A., Diop, H., Gundell, S. M., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Hu, J. J., Sanderson, M., Kachuri, L., Varma, R., McKean-Cowdin, R., Torres, M., Preuss, M. H., Loos, R. J. F., Zawistowski, M., Zöllner, S., Lu, Z., Van Den Eeden, S. K., Easton, D. F., Ambs, S., Edwards, T. L., Mägi, R., Rebbeck, T. R., Fritsche, L., Chanock, S. J., Berndt, S. I., Wiklund, F., Nakagawa, H., Witte, J. S., Gaziano, J. M., Justice, A. C., Mancuso, N., Terao, C., BioBank Japan Project, Eeles, R. A., Kote-Jarai, Z., Madduri, R. K., Conti, D. V. & Haiman, C. A., 12.2023, In: NAT GENET. 55, 12, p. 2065-2074 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants
Müller, S., Kluck, R., Jagodzinski, C., Brügelmann, M., Hohenfellner, K., Büscher, A., Kemper, M. J., Fröde, K., Oh, J., Billing, H., Thumfart, J., Weber, L. T., Acham-Roschitz, B., Arbeiter, K., Tönshoff, B., Hagenberg, M., Pavičić, L., Haffner, D. & Zivicnjak, M., 12.2023, In: PEDIATR NEPHROL. 38, 12, p. 3989-3999 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Development of a centralised triage centre for children with cancer and blood disorders in response to the humanitarian crisis in Ukraine
Salek, M., Mueller, A., Alanbousi, I., Cepowska, Z., Dutkiewicz, M., Earl, J., Evseev, D., Kizyma, R., Kliuchkivska, K., Kolodrubiec, J., Matczak, K., Nogovitsyna, Y., Oszer, A., Pogorelyy, M., Raciborska, A., Rasul, S., Sokolowski, I., Sopilnyak, A., Vinitsky, A., Wlodarski, M. W., Wobst, N., Yakimkova, T., Rodriguez-Galindo, C., Wise, P. H., Mlynarski, W., Agulnik, A. & SAFER Ukraine Collaborative, 12.2023, In: LANCET ONCOL. 24, 12, p. 1315-1318 4 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
Nickel, M., Gissen, P., Greenaway, R., Cappelletti, S., Hamborg, C., Ragni, B., Ribitzki, T., Schulz, A., Tondo, I. & Specchio, N., 12.2023, In: NEUROPEDIATRICS. 54, 6, p. 402-406 5 p.Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
Solid pseudopapillary neoplasms of the pancreas in childhood and adolescence-an analysis of the German Registry for Rare Pediatric Tumors (STEP)
Jentzsch, C., Fuchs, J., Agaimy, A., Vokuhl, C., Escherich, G., Blattmann, C., Warmann, S. W., Schmidt, A., Schäfer, J., Brecht, I. B., Schneider, D. T. & Abele, M., 12.2023, In: EUR J PEDIATR. 182, 12, p. 5341-5352 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Trends in the epidemiology of Clostridioides difficile infection in Germany
Vehreschild, M. J. G. T., Schreiber, S., von Müller, L., Epple, H-J., Weinke, T., Manthey, C., Oh, J., Wahler, S. & Stallmach, A., 12.2023, In: INFECTION. 51, 6, p. 1695-1702 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mouse models of pediatric high-grade gliomas with MYCN amplification reveal intratumoral heterogeneity and lineage signatures
Schoof, M., Godbole, S., Albert, T. K., Dottermusch, M., Walter, C., Ballast, A., Qin, N., Olivera, M. B., Göbel, C., Neyazi, S., Holdhof, D., Kresbach, C., Peter, L-S., Epplen, G. D., Thaden, V., Spohn, M., Blattner-Johnson, M., Modemann, F., Mynarek, M., Rutkowski, S., Sill, M., Varghese, J., Afflerbach, A-K., Eckhardt, A., Münter, D., Verma, A., Struve, N., Jones, D. T. W., Remke, M., Neumann, J. E., Kerl, K. & Schüller, U., 24.11.2023, In: NAT COMMUN. 14, 1, p. 7717Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phase II Trial of Dabrafenib Plus Trametinib in Relapsed/Refractory BRAF V600–Mutant Pediatric High-Grade Glioma
Hargrave, D. R., Terashima, K., Hara, J., Kordes, U., Upadhyaya, S., Sahm, F., Bouffet, E., Packer, R. J., Witt, O., Sandalic, L., Kieloch, A., Russo, M. & Cohen, K., 20.11.2023, In: J CLIN ONCOL. 41, 33, p. 5174-5183 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolemia: an expert consensus statement from ERKNet and ESPN
Reijman, M. D., Kusters, D. M., Groothoff, J. W., Arbeiter, K., Dann, E. J., de Boer, L. M., de Ferranti, S. D., Gallo, A., Greber-Platzer, S., Hartz, J., Hudgins, L. C., Ibarretxe, D., Kayikcioglu, M., Klingel, R., Kolovou, G. D., Oh, J., Planken, R. N., Stefanutti, C., Taylan, C., Wiegman, A. & Schmitt, C. P., 15.11.2023, In: medRxiv.Research output: SCORING: Contribution to journal › Preprint › Research
Further Association of Germline CHEK2 Loss-of-Function Variants with Testicular Germ Cell Tumors
Kirchner, K., Seidel, C., Paulsen, F-O., Sievers, B., Bokemeyer, C. & Lessel, D., 13.11.2023, In: J CLIN MED. 12, 22, 7065.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome for Children and Young Adults With T-Cell ALL and Induction Failure in Contemporary Trials
Raetz, E. A., Rebora, P., Conter, V., Schrappe, M., Devidas, M., Escherich, G., Imai, C., De Moerloose, B., Schmiegelow, K., Burns, M. A., Elitzur, S., Pieters, R., Attarbaschi, A., Yeoh, A., Pui, C-H., Stary, J., Cario, G., Bodmer, N., Moorman, A. V., Buldini, B., Vora, A. & Valsecchi, M. G., 10.11.2023, In: J CLIN ONCOL. 41, 32, p. 5025-5034 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
AATD as a genetic risk factor for aneurysmal disease - Authors' reply
von Kodolitsch, Y., Kubisch, C. & Carrel, T., 04.11.2023, In: LANCET. 402, 10413, p. 1626 1 p.Research output: SCORING: Contribution to journal › Comment/debate › Research
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Mah-Som, A. Y., Daw, J., Huynh, D., Wu, M., Creekmore, B. C., Burns, W., Skinner, S. A., Holla, Ø. L., Smeland, M. F., Planes, M., Uguen, K., Redon, S., Bierhals, T., Scholz, T., Denecke, J., Mensah, M. A., Sczakiel, H. L., Tichy, H., Verheyen, S., Blatterer, J., Schreiner, E., Thies, J., Lam, C., Spaeth, C. G., Pena, L., Ramsey, K., Narayanan, V., Seaver, L. H., Rodriguez, D., Afenjar, A., Burglen, L., Lee, E. B., Chou, T-F., Weihl, C. C. & Shinawi, M. S., 02.11.2023, In: AM J HUM GENET. 110, 11, p. 1959-1975 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
MYC overexpression and SMARCA4 loss cooperate to drive medulloblastoma formation in mice
Göbel, C., Godbole, S., Schoof, M., Holdhof, D., Kresbach, C., Loose, C., Neumann, J. & Schüller, U., 02.11.2023, In: ACTA NEUROPATHOL COM. 11, 1, p. 174Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A Qualitative Evaluation of Advanced Training Programs in Glomerular Diseases: Results From a Program Directors' Survey
Jhaveri, K. D., Schmidt, I. M., Oh, J., Damashek, L. J. & Jain, K., 11.2023, In: KIDNEY INT REP. 8, 11, p. 2183-2186 4 p.Research output: SCORING: Contribution to journal › Editorial › Research
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Maier, E. M., Mütze, U., Janzen, N., Steuerwald, U., Nennstiel, U., Odenwald, B., Schuhmann, E., Lotz-Havla, A. S., Weiss, K. J., Hammersen, J., Weigel, C., Thimm, E., Grünert, S. C., Hennermann, J. B., Freisinger, P., Krämer, J., Das, A. M., Illsinger, S., Gramer, G., Fang-Hoffmann, J., Garbade, S. F., Okun, J. G., Hoffmann, G. F., Kölker, S. & Röschinger, W., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1043-1062 20 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Do differences in diagnostic criteria for late fetal growth restriction matter?
Mylrea-Foley, B., Napolitano, R., Gordijn, S., Wolf, H., Lees, C. C., Stampalija, T. & TRUFFLE-2 Feasibility Study authors, 11.2023, In: AM J OBST GYNEC MFM. 5, 11, p. 101117Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze, U., Henze, L., Schröter, J., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1063-1077 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal outcomes following early fetal growth restriction: a subgroup analysis of the EVERREST study
Lingam, I., Okell, J., Maksym, K., Spencer, R., Peebles, D., Buquis, G., Ambler, G., Morsing, E., Ley, D., Singer, D., Dyer, J., Ginsberg, Y., Weissbach, T., Huertas-Ceballos, A., Marlow, N., David, A. & EVERREST Consortium, 11.2023, In: ARCH DIS CHILD-FETAL. 108, 6, p. 599-606 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Th1 cytokines in pediatric acute lymphoblastic leukemia
Schober, S., Rottenberger, J. M., Hilz, J., Schmid, E., Ebinger, M., Feuchtinger, T., Handgretinger, R., Lang, P. & Queudeville, M., 11.2023, In: CANCER IMMUNOL IMMUN. 72, 11, p. 3621-3634 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Towards decoding the space-time continuum of pregnancy
Thiele, K. & Arck, P. C., 11.2023, In: TRENDS IMMUNOL. 44, 11, p. 859-861 3 p.Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
Der mnemonische Code der Schwangerschaft: Vergleichsanalyse zum Schwangerschaftserfolg und des Komplikationsrisikos bei humanen Erst- und Zweitschwangerschaften
Thiele, K., Ahrendt, L. S., Hecher, K. & Arck, P., 26.10.2023, Reproduktionsimmunologie. Würfel, W. (ed.). 1. Auflage ed. Heidelberg: Springer Heidelberg, p. 183-204 22 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
Schwangerschaftsbedingter Mikrochimärismus
Urbschat, C., Arck, P. C. & Schepanski, S., 26.10.2023, Reproduktionsimmunologie. Würfel, W. (ed.). 1 ed. Heidelberg: Springer Heidelberg, p. 167-182 16 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
Health-Related Quality of Life and Mental Health of Children with Embryonal Abdominal Tumors
Behrendt, P., Boettcher, M., Zierke, K. T., Najem, S., Zapf, H., Reinshagen, K., Wößmann, W. & Boettcher, J., 23.10.2023, In: CHILDREN-BASEL. 10, 10, 1720.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Multimodal cartography of human lymphopoiesis reveals B and T/NK/ILC lineages are subjected to differential regulation
Alhaj Hussen, K., Chabaane, E., Nelson, E., Lekiashvili, S., Diop, S., Keita, S., Evrard, B., Lardenois, A., Delord, M., Verhoeyen, E., Cornils, K., Kasraian, Z., Macintyre, E. A., Cumano, A., Garrick, D., Goodhardt, M., Andrieu, G. P., Asnafi, V., Chalmel, F. & Canque, B., 20.10.2023, In: ISCIENCE. 26, 10, 107890.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pregnancy-induced transfer of pathogen-specific T cells from mother to fetus in mice
Yüzen, D., Urbschat, C., Schepanski, S., Thiele, K., Arck, P. C. & Mittrücker, H-W., 09.10.2023, In: EMBO REP. 24, 10, e56829.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Rhabdoid tumors in patients conceived following ART: is there an association?
Nemes, K., Benesch, M., Kolarova, J., Johann, P., Hasselblatt, M., Thomas, C., Bens, S., Glaser, S., Ammerpohl, O., Liaugaudiene, O., Sadeghipour, A., von der Weid, N., Schmid, I., Gidding, C., Erdreich-Epstein, A., Khurana, C., Ebetsberger-Dachs, G., Lemmer, A., Khatib, Z., Hernández Marqués, C., Pears, J., Quehenberger, F., Kordes, U., Vokuhl, C., Gerss, J., Schwarz, H., Bison, B., Biegel, J. A., Siebert, R. & Frühwald, M. C., 03.10.2023, In: HUM REPROD. 38, 10, p. 2028-2038 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
ABL-class Genomic Breakpoint Q-PCR: A Patient-specific Approach for MRD Monitoring in Acute Lymphoblastic Leukemia
van Outersterp, I., van der Velden, V. H. J., Hoogeveen, P. G., Vaitkevičienė, G. E., Sonneveld, E., van Haaften, G., Kuiper, R. P., Zur Stadt, U., Escherich, G., Boer, J. M. & den Boer, M. L., 10.2023, In: HEMASPHERE. 7, 10, p. e967Research output: SCORING: Contribution to journal › Letter › Research › peer-review
Abortion in the First Trimester. Guideline of the DGGG (S2k-Level, AWMF Registry No. 015-094, December 2022) - Part 1 with Recommendations on Care Structures, Information and Advice on Decision-Making, Measures Before Abortion and Medical Abortion
David, M., Achtenhagen, A., Bamberg, C., Bormann, C., Felderhoff-Müser, U., Groth, S., Hänel, K., König, K., Korell, M., Michl, S., Redler, S., Schleußner, E., Seyler, H., Wallwiener, M. & Wallwiener, S., 10.2023, In: GEBURTSH FRAUENHEILK. 83, 10, p. 1205-1220 16 p.Research output: SCORING: Contribution to journal › Guideline, recommendation, statement › Transfer › peer-review
Abortion in the First Trimester. Guideline of the DGGG (S2k-Level, AWMF Registry No. 015-094, December 2022) - Part 2 with Recommendations for Surgical Termination of Pregnancy and Follow-up Care After Termination of Pregnancy
David, M., Achtenhagen, A., Bamberg, C., Bormann, C., Felderhoff-Müser, U., Groth, S., Hänel, K., König, K., Korell, M., Michl, S., Redler, S., Schleußner, E., Seyler, H., Wallwiener, M. & Wallwiener, S., 10.2023, In: GEBURTSH FRAUENHEILK. 83, 10, p. 1221-1234 14 p.Research output: SCORING: Contribution to journal › Guideline, recommendation, statement › Research › peer-review
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
Maccari, M. E., Wolkewitz, M., Schwab, C., Lorenzini, T., Leiding, J. W., Aladjdi, N., Abolhassani, H., Abou-Chahla, W., Aiuti, A., Azarnoush, S., Baris, S., Barlogis, V., Barzaghi, F., Baumann, U., Bloomfield, M., Bohynikova, N., Bodet, D., Boutboul, D., Bucciol, G., Buckland, M. S., Burns, S. O., Cancrini, C., Cathébras, P., Cavazzana, M., Cheminant, M., Chinello, M., Ciznar, P., Coulter, T. I., D'Aveni, M., Ekwall, O., Eric, Z., Eren, E., Fasth, A., Frange, P., Fournier, B., Garcia-Prat, M., Gardembas, M., Geier, C., Ghosh, S., Goda, V., Hammarström, L., Hauck, F., Heeg, M., Heropolitanska-Pliszka, E., Hilfanova, A., Jolles, S., Karakoc-Aydiner, E., Kindle, G. R., Kiykim, A., Klemann, C., Koletsi, P., Koltan, S., Kondratenko, I., Körholz, J., Krüger, R., Jeziorski, E., Levy, R., Le Guenno, G., Lefevre, G., Lougaris, V., Marzollo, A., Mahlaoui, N., Malphettes, M., Meinhardt, A., Merlin, E., Meyts, I., Milota, T., Moreira, F., Moshous, D., Mukhina, A., Neth, O., Neubert, J., Neven, B., Nieters, A., Nove-Josserand, R., Oksenhendler, E., Ozen, A., Olbrich, P., Perlat, A., Pac, M., Schmid, J. P., Pacillo, L., Parra-Martinez, A., Paschenko, O., Pellier, I., Sefer, A. P., Plebani, A., Plantaz, D., Prader, S., Raffray, L., Ritterbusch, H., Riviere, J. G., Rivalta, B., Rusch, S., Sakovich, I., Savic, S., Scheible, R., Schleinitz, N., Schuetz, C., Schulz, A., Sediva, A., Semeraro, M., Sharapova, S. O., Shcherbina, A., Slatter, M. A., Sogkas, G., Soler-Palacin, P., Speckmann, C., Stephan, J-L., Suarez, F., Tommasini, A., Trück, J., Uhlmann, A., van Aerde, K. J., van Montfrans, J., von Bernuth, H., Warnatz, K., Williams, T., Worth, A. J. J., Ip, W., Picard, C., Catherinot, E., Nademi, Z., Grimbacher, B., Forbes Satter, L. R., Kracker, S., Chandra, A., Condliffe, A. M., Ehl, S. & European Society for Immunodeficiencies Registry Working Party, 10.2023, In: J ALLERGY CLIN IMMUN. 152, 4, p. 984-996.e10Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
Weinhofer, I., Rommer, P., Gleiss, A., Ponleitner, M., Zierfuss, B., Waidhofer-Söllner, P., Fourcade, S., Grabmeier-Pfistershammer, K., Reinert, M-C., Göpfert, J., Heine, A., Yska, H. A. F., Casasnovas, C., Cantarín, V., Bergner, C. G., Mallack, E., Forss-Petter, S., Aubourg, P., Bley, A., Engelen, M., Eichler, F., Lund, T. C., Pujol, A., Köhler, W., Kühl, J-S. & Berger, J., 10.2023, In: EBIOMEDICINE. 96, p. 104781Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review