Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2022

  2. The consequences of neonatal pain, stress and opiate administration in animal models: an extensive meta-analysis concerning neuronal cell death, motor and behavioral outcomes

    Steinbauer, P., Monje, F. J., Kothgassner, O., Goreis, A., Eva, C., Wildner, B., Schned, H., Deindl, P., Seki, D., Berger, A., Olischar, M. & Giordano, V., 06.2022, In: NEUROSCI BIOBEHAV R. 137, 104661.

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

  3. Serum GFAP differentiates Alzheimer's disease from frontotemporal dementia and predicts MCI-to-dementia conversion

    Oeckl, P., Anderl-Straub, S., Von Arnim, C. A. F., Baldeiras, I., Diehl-Schmid, J., Grimmer, T., Halbgebauer, S., Kort, A. M., Lima, M., Marques, T. M., Ortner, M., Santana, I., Steinacker, P., Verbeek, M. M., Volk, A. E., Ludolph, A. C. & Otto, M., 27.05.2022, In: J NEUROL NEUROSUR PS. 93, p. 659-667 9 p.

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

  4. Looking back: Identifying supportive care and unmet needs of parents of children receiving specialist paediatric palliative care from the bereavement perspective

    Bronsema, A., Theißen, T., Oechsle, K., Wikert, J., Escherich, G., Rutkowski, S., Bokemeyer, C. & Ullrich, A., 25.05.2022, In: BMC PALLIAT CARE. 21, 1, 87.

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

  5. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

    von Elsner, L., Chai, G., Schneeberger, P. E., Harms, F. L., Casar, C., Qi, M., Alawi, M., Abdel-Salam, G. M. H., Zaki, M. S., Arndt, F., Yang, X., Stanley, V., Hempel, M., Gleeson, J. G. & Kutsche, K., 24.05.2022, In: BRAIN. 145, 4, p. 1551-1563 13 p.

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

  6. Long noncoding RNAs as regulators of pediatric acute myeloid leukemia

    Neyazi, S., Ng, M., Heckl, D. & Klusmann, J-H., 20.05.2022, In: Molecular and cellular pediatrics. 9, 1, 10.

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

  7. The Spaced Learning Concept in Combination With Halsted and Peyton - A Randomized Controlled Study

    Le, M., Boettcher, J., Vincent, D., Elrod, J., Mietzsch, S., Romero, P., Perez, A., Reinshagen, K. & Boettcher, M., 17.05.2022, In: J SURG EDUC. 79, 5, p. 1228-1236 9 p.

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

  8. How peritoneal dialysis transforms the peritoneum and vasculature in children with chronic kidney disease-what can we learn for future treatment?

    Bartosova, M., Zarogiannis, S. G., Schmitt, C. P. & Members of the International Pediatric Peritoneal Biobank, 05.05.2022, In: Molecular and cellular pediatrics. 9, 1, p. 9

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

  9. Thiopurine Enhanced ALL Maintenance (TEAM): study protocol for a randomized study to evaluate the improvement in disease-free survival by adding very low dose 6-thioguanine to 6-mercaptopurine/methotrexate-based maintenance therapy in pediatric and adult patients (0-45 years) with newly diagnosed B-cell precursor or T-cell acute lymphoblastic leukemia treated according to the intermediate risk-high group of the ALLTogether1 protocol

    Toksvang, L. N., Als-Nielsen, B., Bacon, C., Bertasiute, R., Duarte, X., Escherich, G., Helgadottir, E. A., Johannsdottir, I. R., Jónsson, Ó. G., Kozlowski, P., Langenskjöld, C., Lepik, K., Niinimäki, R., Overgaard, U. M., Punab, M., Räty, R., Segers, H., van der Sluis, I., Smith, O. P., Strullu, M., Vaitkevičienė, G., Wik, H. S., Heyman, M. & Schmiegelow, K., 02.05.2022, In: BMC CANCER. 22, 1, 483.

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

  10. Clofarabine increases the eradication of minimal residual disease of primary B-precursor acute lymphoblastic leukemia compared to high-dose cytarabine without improvement of outcome. Results from the randomized clinical trial 08-09 of the Cooperative Acute Lymphoblastic Leukemia Study Group

    Escherich, G., Zur Stadt, U., Borkhardt, A., Dilloo, D., Faber, J., Feuchtinger, T., Imschweiler, T., Jorch, N., Pekrun, A., Schmid, I., Schramm, F., Spohn, M., Zimmermann, M. & Horstmann, M. A., 01.05.2022, In: HAEMATOLOGICA. 107, 5, p. 1026-1033 8 p.

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

  11. Consensus-Based Guidelines for the Recognition, Diagnosis, and Management of Hemophagocytic Lymphohistiocytosis in Critically Ill Children and Adults

    Hines, M. R., von Bahr Greenwood, T., Beutel, G., Beutel, K., Hays, J. A., Horne, A., Janka, G., Jordan, M. B., van Laar, J. A. M., Lachmann, G., Lehmberg, K., Machowicz, R., Miettunen, P., La Rosée, P., Shakoory, B., Zinter, M. S. & Henter, J-I., 01.05.2022, In: CRIT CARE MED. 50, 5, p. 860-872 13 p.

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

  12. Does the Y chromosome play a role for outcome in childhood acute lymphoblastic leukemia?

    Conter, V., Schrappe, M. & Escherich, G., 01.05.2022, In: CANCER-AM CANCER SOC. 128, 9, p. 1727-1729 3 p.

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

  13. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

    Holling, T., Bhavani, G. S., von Elsner, L., Shah, H., Kausthubham, N., Bhattacharyya, S. S., Shukla, A., Mortier, G. R., Schinke, T., Danyukova, T., Pohl, S., Kutsche, K. & Girisha, K. M., 05.2022, In: HUM MUTAT. 43, 5, p. 625-642 18 p.

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

  14. Allogeneic hematopoietic stem cell transplantation for adult HLH: a retrospective study by the chronic malignancies and inborn errors working parties of EBMT

    Machowicz, R., Suarez, F., Wiktor-Jedrzejczak, W., Eikema, D-J., de Wreede, L. C., Blok, H-J., Isaksson, C., Einsele, H., Poiré, X., van Dorp, S., Nikolousis, E., Johansson, J-E., Kobbe, G., Zecca, M., Arnold, R., Gerbitz, A., Finke, J., Díez-Martín, J. L., Bonifazi, F., McQuaker, G., Lenhoff, S., Rohrlich, P-S., Theobald, M., Ljungman, P., Collin, M., Albert, M. H., Ehninger, G., Carlson, K., Halaburda, K., Lehmberg, K., Schönland, S., Yakoub-Agha, I., Gennery, A. R., Lankester, A. C. & Kröger, N., 05.2022, In: BONE MARROW TRANSPL. 57, 5, p. 817-823 7 p.

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

  15. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

    Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., 05.2022, In: EUR J HUM GENET. 30, 5, p. 611-618 8 p.

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

  16. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M., Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., 05.2022, In: CLIN GENET. 102, 2, p. 98-109 12 p.

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

  17. Comparison of single copy gene‑based duplex quantitative PCR and digital droplet PCR for monitoring of expansion of CD19‑directed CAR T cells in treated patients

    Schubert, M-L., Berger, C., Kunz, A., Schmitt, A., Badbaran, A., Neuber, B., Zeschke, S., Wang, L., Riecken, K., Hückelhoven-Krauss, A., Müller, I., Müller-Tidow, C., Dreger, P., Kröger, N., Ayuk, F. A., Schmitt, M. & Fehse, B., 05.2022, In: INT J ONCOL. 60, 5, 48.

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

  18. The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

    Wibbeler, E., Nickel, M., Schwering, C., Schulz, A. & Mink, J. W., 05.2022, In: EUR J PAEDIATR NEURO. 38, p. 62-65 4 p.

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

  19. Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)

    Lenders, M., Nordbeck, P., Kurschat, C., Eveslage, M., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., von Cossel, K., Blaschke, D., Brand, S-M., Alexander Mann, W., Kampmann, C., Muschol, N., Canaan-Kühl, S. & Brand, E., 05.2022, In: EUR HEART J-CARD PHA. 8, 3, p. 272–281

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

  20. Werner syndrome in a Lebanese family

    Jaafar, B., Nasrallah, M., Sievers, B., Oshima, J. & Lessel, D., 05.2022, In: AM J MED GENET A. 188, 5, p. 1630-1634 5 p.

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

  21. Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population

    Nemes, K., Johann, P. D., Steinbügl, M., Gruhle, M., Bens, S., Kachanov, D., Teleshova, M., Hauser, P., Simon, T., Tippelt, S., Eberl, W., Chada, M., Lopez, V. S-M., Grigull, L., Hernáiz-Driever, P., Eyrich, M., Pears, J., Milde, T., Reinhard, H., Leipold, A., van de Wetering, M., Gil-da-Costa, M. J., Ebetsberger-Dachs, G., Kerl, K., Lemmer, A., Boztug, H., Furtwängler, R., Kordes, U., Vokuhl, C., Hasselblatt, M., Bison, B., Kröncke, T., Melchior, P., Timmermann, B., Gerss, J., Siebert, R. & Frühwald, M. C., 27.04.2022, In: CANCERS. 14, 9, 2185.

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

  22. Limits in Laparoscopic Partial Splenectomy in Children

    Tomuschat, C., Aftzoglou, M., Hagens, J., Boettcher, M. & Reinshagen, K., 24.04.2022, In: CHILDREN-BASEL. 9, 5, 605.

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

  23. Perinatal and 2-year neurodevelopmental outcome in late preterm fetal: the TRUFFLE 2 randomised trial protocolcompromise

    Mylrea-Foley, B., Thornton, J. G., Mullins, E., Marlow, N., Hecher, K., Ammari, C., Arabin, B., Berger, A., Bergman, E., Bhide, A., Bilardo, C., Binder, J., Breeze, A., Brodszki, J., Calda, P., Cannings-John, R., Černý, A., Cesari, E., Cetin, I., Dall'Asta, A., Diemert, A., Ebbing, C., Eggebø, T., Fantasia, I., Ferrazzi, E., Frusca, T., Ghi, T., Goodier, J., Greimel, P., Gyselaers, W., Hassan, W., Von Kaisenberg, C., Kholin, A., Klaritsch, P., Krofta, L., Lindgren, P., Lobmaier, S., Marsal, K., Maruotti, G. M., Mecacci, F., Myklestad, K., Napolitano, R., Ostermayer, E., Papageorghiou, A., Potter, C., Prefumo, F., Raio, L., Richter, J., Sande, R. K., Schlembach, D., Schleußner, E., Stampalija, T., Thilaganathan, B., Townson, J., Valensise, H., Visser, G. H., Wee, L., Wolf, H., Lees, C. C. & Truffle-2 Group, 15.04.2022, In: BMJ OPEN. 12, 4, e055543.

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

  24. Pneumopericardium in a Preterm Infant with Marked Pulmonary Hypoplasia

    Tomuschat, C., Jürgens, J. & Deindl, P., 15.04.2022, In: DTSCH ARZTEBL INT. 119, 15, 276.

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

  25. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

    Gehlen, J., Giel, A-S., Köllges, R., Haas, S. L., Zhang, R., Trcka, J., Sungur, A. Ö., Renziehausen, F., Bornholdt, D., Jung, D., Hoyer, P. D., Nordenskjöld, A., Tibboel, D., Vlot, J., Spaander, M. C. W., Smigiel, R., Patkowski, D., Roeleveld, N., van Rooij, I. A., de Blaauw, I., Hölscher, A., Pauly, M., Leutner, A., Fuchs, J., Niethammer, J., Melissari, M-T., Jenetzky, E., Zwink, N., Thiele, H., Hilger, A. C., Hess, T., Trautmann, J., Marks, M., Baumgarten, M., Bläss, G., Landén, M., Fundin, B., Bulik, C. M., Pennimpede, T., Ludwig, M., Ludwig, K. U., Mangold, E., Heilmann-Heimbach, S., Moebus, S., Herrmann, B. G., Alsabeah, K., Burgos, C. M., Lilja, H. E., Azodi, S., Stenström, P., Arnbjörnsson, E., Frybova, B., Lebensztejn, D. M., Debek, W., Kolodziejczyk, E., Kozera, K., Kierkus, J., Kaliciński, P., Stefanowicz, M., Socha-Banasiak, A., Kolejwa, M., Piaseczna-Piotrowska, A., Czkwianianc, E., Nöthen, M. M., Grote, P., Rygl, M., Reinshagen, K., Spychalski, N., Ludwikowski, B., Hubertus, J., Heydweiller, A., Ure, B., Muensterer, O. J., Aubert, O., Gosemann, J-H., Lacher, M., Degenhardt, P., Boemers, T. M., Mokrowiecka, A., Małecka-Panas, E., Wöhr, M., Knapp, M., Seitz, G., de Klein, A., Oracz, G., Brosens, E., Reutter, H. & Schumacher, J., 14.04.2022, In: HUM GENET GENOM ADV. 3, 2, 100093.

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

  26. Intake Patterns of Specific Alcoholic Beverages by Prostate Cancer Status

    Lin, H-Y., Tseng, T-S., Wang, X., Fang, Z., Zea, A. H., Wang, L., Pow-Sang, J., Tangen, C. M., Goodman, P. J., Wolk, A., Håkansson, N., Kogevinas, M., Llorca, J., Brenner, H., Schöttker, B., Castelao, J. E., Gago-Dominguez, M., Gamulin, M., Lessel, D., Claessens, F., Joniau, S., The Practical Consortium & Park, J. Y., 14.04.2022, In: CANCERS. 14, 8, 1981.

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

  27. Cold-Induced Lipoprotein Clearance in Cyp7b1-Deficient Mice

    Evangelakos, I., Kuhl, A., Baguhl, M., Schlein, C., John, C., Rohde, J. K., Heine, M. & Worthmann, A-F., 11.04.2022, In: FRONT CELL DEV BIOL. 10, 10, p. 836741 836741.

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

  28. Impact of the COVID-19 pandemic on patients with paediatric cancer in low-income, middle-income and high-income countries: a multicentre, international, observational cohort study

    Global Health Research Group on Children’s Non-Communicable Diseases Collaborative, 11.04.2022, In: BMJ OPEN. 12, 4, p. e054690 e054690.

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

  29. Children with cancer and their families after active treatment: analyses of biopsychosocial needs and implications for healthcare - a study protocol

    Inhestern, L., Paul, V., Winzig, J., Rutkowski, S., Escherich, G. & Bergelt, C., 05.04.2022, In: BMJ OPEN. 12, 4, p. e055633

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

  30. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T., Krylova, T. D., Lamperti, C., Lenz, D., Makowski, C., Mosegaard, S., Müller, M. F., Muñoz-Pujol, G., Nadel, A., Ohtake, A., Okazaki, Y., Procopio, E., Schwarzmayr, T., Smet, J., Staufner, C., Stenton, S. L., Strom, T. M., Terrile, C., Tort, F., Van Coster, R., Vanlander, A., Wagner, M., Xu, M., Fang, F., Ghezzi, D., Mayr, J. A., Piekutowska-Abramczuk, D., Ribes, A., Rötig, A., Taylor, R. W., Wortmann, S. B., Murayama, K., Meitinger, T., Gagneur, J. & Prokisch, H., 05.04.2022, In: GENOME MED. 14, 1, 38.

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

  31. Can Machine Learning Models Predict Asparaginase-associated Pancreatitis in Childhood Acute Lymphoblastic Leukemia

    Nielsen, R. L., Wolthers, B. O., Helenius, M., Albertsen, B. K., Clemmensen, L., Nielsen, K., Kanerva, J., Niinimäki, R., Frandsen, T. L., Attarbaschi, A., Barzilai, S., Colombini, A., Escherich, G., Aytan-Aktug, D., Liu, H-C., Möricke, A., Samarasinghe, S., van der Sluis, I. M., Stanulla, M., Tulstrup, M., Yadav, R., Zapotocka, E., Schmiegelow, K. & Gupta, R., 01.04.2022, In: J PEDIAT HEMATOL ONC. 44, 3, p. e628-e636

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

  32. Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive

    Marten, L. M., Wanes, D., Stellbrinck, T., Santer, R. & Naim, H. Y., 01.04.2022, In: BBA-MOL BASIS DIS. 1868, 4, p. 166338

    Research output: SCORING: Contribution to journal › Letter › Research › peer-review

  33. Intravenous fluids: Issues warranting concern

    Mertzlufft, F., Brettner, F., Crystal, G. J., Hollmann, M. W., Kasatkin, A., Lönnqvist, P-A., Singer, D., Sümpelmann, R., Wenzel, V., Zander, R. & Ziegenfuß, T., 01.04.2022, In: EUR J ANAESTH. 39, 4, p. 394-396 3 p.

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

  34. Beinahe-Darmperforation durch rektale Temperatursonde

    Ebenebe, C. U., Singer, D. & Tomuschat, C., 04.2022, In: Z GEBURTSH NEONATOL. 226, 2, p. 142-143 2 p.

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

  35. Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy

    Cabanillas Stanchi, K. M., Böhringer, J., Strölin, M., Groeschel, S., Lenglinger, K., Treuner, C., Kehrer, C., Laugwitz, L., Bevot, A., Kaiser, N., Schumm, M., Lang, P., Handgretinger, R., Krägeloh-Mann, I., Müller, I. & Döring, M., 04.2022, In: STEM CELLS DEV. 31, 7-8, p. 163-175 13 p.

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

  36. High prevalence of multidrug-resistant Gram-negative bacteria carriage in children screened prospectively for multidrug resistant organisms at admission to a paediatric hospital, Hamburg, Germany, September 2018 to May 2019

    Najem, S., Eick, D., Boettcher, J., Aigner, A., Aboutara, M., Fenner, I., Reinshagen, K. & Koenigs, I., 04.2022, In: EUROSURVEILLANCE. 27, 15, 2001567.

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

  37. Machine Learning Models Predict the Primary Sites of Head and Neck Squamous Cell Carcinoma Metastases Based on DNA Methylation

    Leitheiser, M., Capper, D., Seegerer, P., Lehmann, A., Schüller, U., Müller, K-R., Klauschen, F., Jurmeister, P. & Michael, B., 04.2022, In: J PATHOL. 256, 4, p. 378-387 10 p.

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

  38. Mucha-Habermann disease: a pediatric case report and proposal of a risk score

    Blohm, M. E., Ebenebe, C. U., Rau, C., Escherich, C., Johannsen, J., Escherich, G., Driemeyer, J., Nagel, P. D., Kobbe, R., Lütgehetmann, M., Lennartz, M., Booken, N., Schneider, S. W. & Singer, D., 04.2022, In: INT J DERMATOL. 61, 4, p. 401-409 9 p.

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

  39. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

    Holling, T., Nampoothiri, S., Tarhan, B., Schneeberger, P. E., Vinayan, K. P., Yesodharan, D., Roy, A. G., Radhakrishnan, P., Alawi, M., Rhodes, L., Girisha, K. M., Kang, P. B. & Kutsche, K., 04.2022, In: EUR J HUM GENET. 30, 4, p. 439-449 11 p.

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

  40. PIGN encephalopathy: Characterizing the epileptology

    Bayat, A., de Valles-Ibáñez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., des Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M. S., Jezela-Stanek, A., Jouk, P-S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J. R., Li, H., Martinez, F., Maxton, C., Mefford, H. C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L. E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E. M. C., Stegmann, A. P. A., Stumpel, C. T., Szczepanik, E., Terczyńska, I., Thevenon, J., Tzschach, A., Van Bogaert, P., Vittorini, R., Walsh, S., Weckhuysen, S., Weissman, B., Wolfe, L., Reymond, A., De Nittis, P., Poduri, A., Olson, H., Striano, P., Lesca, G., Scheffer, I. E., Møller, R. S. & Sadleir, L. G., 04.2022, In: EPILEPSIA. 63, 4, p. 974-991 18 p.

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

  41. Spatial molecular profiling of a central nervous system low-grade diffusely infiltrative tumour with INI1 deficiency featuring a high-grade atypical teratoid/rhabdoid tumour component

    Dottermusch, M., Schumann, Y., Kordes, U., Hasselblatt, M. & Neumann, J. E., 04.2022, In: NEUROPATH APPL NEURO. 48, 3, p. e12777 e12777.

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

  42. Thyroid function, thyroid antibodies and early postnatal development in neonates of mothers with thyroid disorders

    Stoltefaut, M., Fröschle, G. M., Haddad, M., Perez, A., Blohm, M. E., Deindl, P., Singer, D. & Ebenebe, C. U., 04.2022, In: EARLY HUM DEV. 167, 105561.

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

  43. Quantification of Minimal Disease by Digital PCR in ALK-Positive Anaplastic Large Cell Lymphoma: A Step towards Risk Stratification in International Trials?

    Damm-Welk, C., Lovisa, F., Contarini, G., Lüdersen, J., Carraro, E., Knörr, F., Förster, J., Zimmermann, M., Sala, A., Vinti, L., Tondo, A., Pillon, M., Woessmann, W. & Mussolin, L., 27.03.2022, In: CANCERS. 14, 7, 1703.

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

  44. In Reply

    Reinshagen, K., 25.03.2022, In: DTSCH ARZTEBL INT. 119, 12, p. 218

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

  45. Remission, treatment failure, and relapse in pediatric ALL: An international consensus of the Ponte-di-Legno Consortium

    Buchmann, S., Schrappe, M., Baruchel, A., Biondi, A., Borowitz, M. J., Campbell, M., Cario, G., Cazzaniga, G., Escherich, G., Harrison, C. J., Heyman, M., Hunger, S. P., Kiss, C., Liu, H-C., Locatelli, F., Loh, M. L., Manabe, A., Mann, G., Pieters, R., Pui, C-H., Rives, S., Schmiegelow, K., Silverman, L. B., Stary, J., Vora, A., Brown, P. A. & Ponte-di-Legno Consortium, 24.03.2022, In: BLOOD. 139, 12, p. 1785-1793 9 p.

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

  46. Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors

    Graf, M., Interlandi, M., Moreno, N., Holdhof, D., Göbel, C., Melcher, V., Mertins, J., Albert, T. K., Kastrati, D., Alfert, A., Holsten, T., de Faria, F., Meisterernst, M., Rossig, C., Warmuth-Metz, M., Nowak, J., Meyer Zu Hörste, G., Mayère, C., Nef, S., Johann, P., Frühwald, M. C., Dugas, M., Schüller, U. & Kerl, K., 22.03.2022, In: NAT COMMUN. 13, 1, 1544.

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

  47. Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype

    Demal, T. J., Scholz, T., Schüler, H., Olfe, J., Fröhlich, A., Speth, F., von Kodolitsch, Y., Mir, T. S., Reichenspurner, H., Kubisch, C., Hempel, M. & Rosenberger, G., 16.03.2022, In: SCI REP-UK. 12, 1, p. 4489

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

  48. The Reconstitution Dynamics of Cultivated Hematopoietic Stem Cells and Progenitors Is Independent of Age

    Gotzhein, F., Aranyossy, T., Thielecke, L., Sonntag, T., Thaden, V., Fehse, B., Müller, I., Glauche, I. & Cornils, K., 15.03.2022, In: INT J MOL SCI. 23, 6, 3160.

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

  49. „Fremdkörper“ im Röntgenbild: dislozierter thorako-amnialer Shunt

    Reinsch, F., Vogelsang, V., Klohs, S., Weinrich, J., Geipel, A., Gembruch, U., Singer, D. & Ebenebe, C., 14.03.2022, In: Z GEBURTSH NEONATOL. 226, 5, p. 349-350 2 p.

    Research output: SCORING: Contribution to journal › Case report › Research › peer-review

  50. Increased replication stress and R-loop accumulation in EGFRvIII expressing glioblastoma present new therapeutic opportunities

    Struve, N., Hoffer, K., Weik, A-S., Riepen, B., Krug, L., Cetin, M. H., Burmester, J., Ott, L., Liebing, J., Gatzemeier, F., Müller-Goebel, J., Bußmann, L., Parplys, A. C., Unger, K., Mansour, W. Y., Schüller, U., Rieckmann, T., Petersen, C., Rothkamm, K., Short, S. C. & Kriegs, M., 12.03.2022, In: NEURO-ONCOL ADV. 4, 1, p. vdab180 vdab180.

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

  51. Infant immunity against viral infections is advanced by the placenta-dependent vertical transfer of maternal antibodies

    Albrecht, M., Pagenkemper, M., Wiessner, C., Spohn, M., Lütgehetmann, M., Jacobsen, H., Gabriel, G., Zazara-Giannou, D. E., Haertel, C., Hecher, K., Diemert, A. & Arck, P. C., 08.03.2022, In: VACCINE. 40, 11, p. 1563-1571 9 p.

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

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