Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2021

  2. A "Goldilocks" approach to CNS leukemia is needed

    Halsey, C. & Escherich, G., 29.07.2021, In: BLOOD. 138, 4, p. 288-289 2 p.

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

  3. The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases

    Fuchs, S., Lisfeld, J., Kankel, S., Person, L. & Liehr, T., 28.07.2021, In: HUM GENOME VAR. 8, 1, 32.

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

  4. Impact of Propofol Bolus Administration on the Nociceptive Flexion Reflex Threshold and Bispectral Index in Children-A Case Series

    Mauritz, M. D., Uhlenberg, F., Vettorazzi, E., Ebenebe, C. U., Singer, D. & Deindl, P., 27.07.2021, In: CHILDREN-BASEL. 8, 8, p. 639

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

  5. Identification of 22 susceptibility loci associated with testicular germ cell tumors

    Pluta, J., Pyle, L. C., Nead, K. T., Wilf, R., Li, M., Mitra, N., Weathers, B., D'Andrea, K., Almstrup, K., Anson-Cartwright, L., Benitez, J., Brown, C. D., Chanock, S., Chen, C., Cortessis, V. K., Ferlin, A., Foresta, C., Gamulin, M., Gietema, J. A., Grasso, C., Greene, M. H., Grotmol, T., Hamilton, R. J., Haugen, T. B., Hauser, R., Hildebrandt, M. A. T., Johnson, M. E., Karlsson, R., Kiemeney, L. A., Lessel, D., Lothe, R. A., Loud, J. T., Loveday, C., Martin-Gimeno, P., Meijer, C., Nsengimana, J., Quinn, D. I., Rafnar, T., Ramdas, S., Richiardi, L., Skotheim, R. I., Stefansson, K., Turnbull, C., Vaughn, D. J., Wiklund, F., Wu, X., Yang, D., Zheng, T., Wells, A. D., Grant, S. F. A., Rajpert-De Meyts, E., Schwartz, S. M., Bishop, D. T., McGlynn, K. A., Kanetsky, P. A., Nathanson, K. L. & Testicular Cancer Consortium, 23.07.2021, In: NAT COMMUN. 12, 1, p. 4487

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

  6. A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A

    Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E. & Alexanderian, D., 13.07.2021, In: MOL GENET METAB. 134, 1-2, p. 175-181 7 p.

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

  7. Randomized Trial of Fetal Surgery for Moderate Left Diaphragmatic Hernia

    Deprest, J. A., Benachi, A., Gratacos, E., Nicolaides, K. H., Berg, C., Persico, N., Belfort, M., Gardener, G. J., Ville, Y., Johnson, A., Morini, F., Wielgoś, M., Van Calster, B., DeKoninck, P. L. J. & TOTAL Trial for Moderate Hypoplasia Investigators, 08.07.2021, In: NEW ENGL J MED. 385, 2, p. 119-129 11 p.

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

  8. Maternal outcomes and risk factors for COVID-19 severity among pregnant women

    Vouga, M., Favre, G., Martinez-Perez, O., Pomar, L., Acebal, L. F., Abascal-Saiz, A., Hernandez, M. R. V., Hcini, N., Lambert, V., Carles, G., Sichitiu, J., Salomon, L., Stirnemann, J., Ville, Y., de Tejada, B. M., Goncé, A., Hawkins-Villarreal, A., Castillo, K., Solsona, E. G., Trigo, L., Cleary, B., Geary, M., Bartels, H., Al-Kharouf, F., Malone, F., Higgins, M., Keating, N., Knowles, S., Poncelet, C., Ribeiro-do-Valle, C. C., Surita, F., Dantas-Silva, A., Borrelli, C., Luz, A. G., Fuenzalida, J., Carvajal, J., Canales, M. G., Hernandez, O., Grechukhina, O., Ko, A. I., Reddy, U., Figueiredo, R., Moucho, M., Pinto, P. V., De Luca, C., De Santis, M., de Campos, D. A., Martins, I., Garabedian, C., Subtil, D., Bohrer, B., Da Rocha Oppermann, M. L., Wender, M. C. O., Schuler-Faccini, L., Sanseverino, M. T. V., Giugliani, C., Friedrich, L., Scherer, M. H., Mottet, N., Ducarme, G., Pelerin, H., Moreau, C., Breton, B., Quibel, T., Rozenberg, P., Giannoni, E., Granado, C., Monod, C., Mueller, D., Hoesli, I., Bassler, D., Heldstab, S., Kölble, N. O., Sentilhes, L., Charvet, M., Deprest, J., Richter, J., Van der Veeken, L., Eggel-Hort, B., Plantefeve, G., Derouich, M., Calvache, A. J. N., Lopez-Giron, M. C., Burgos-Luna, J. M., Escobar-Vidarte, M. F., Hecher, K., Tallarek, A-C., Hadar, E., Haratz, K. K., Amikam, U., Malinger, G., Maymon, R., Yogev, Y., Schäffer, L., Toussaint, A., Rossier, M-C., De Sa, R. A. M., Grawe, C., Aebi-Popp, K., Radan, A-P., Raio, L., Surbek, D., Böckenhoff, P., Strizek, B., Kaufmann, M., Bloch, A., Boulvain, M., Johann, S., Heldstab, S. A., Bernasconi, M. T., Grant, G., Feki, A., Brochut, A-C. M., Giral, M., Sedille, L., Papadia, A., Brugger, R. C., Weber, B., Fischer, T., Kahlert, C., Saines, K. N., Cambou, M., Kanellos, P., Chen, X., Yin, M., Haessig, A., Ackermann, S., Baud, D. & Panchaud, A., 06.07.2021, In: SCI REP-UK. 11, 1, 13898.

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

  9. CEDAR, an online resource for the reporting and exploration of complexome profiling data

    van Strien, J., Haupt, A., Schulte, U., Braun, H-P., Cabrera-Orefice, A., Choudhary, J. S., Evers, F., Fernandez-Vizarra, E., Guerrero-Castillo, S., Kooij, T. W. A., Páleníková, P., Pardo, M., Ugalde, C., Wittig, I., Wöhlbrand, L., Brandt, U., Arnold, S. & Huynen, M. A., 01.07.2021, In: BBA-BIOENERGETICS. 1862, 7, p. 148411

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

  10. Genome-wide methylation profiling of glioblastoma cell-derived extracellular vesicle DNA allows tumor classification

    Maire, C. L., Fuh, M. M., Kaulich, K., Fita, K. D., Stevic, I., Heiland, D. H., Welsh, J. A., Jones, J. C., Görgens, A., Ricklefs, T., Dührsen, L., Sauvigny, T., Joosse, S. A., Reifenberger, G., Pantel, K., Glatzel, M., Miklosi, A. G., Felce, J. H., Caselli, M., Pereno, V., Reimer, R., Schlüter, H., Westphal, M., Schüller, U., Lamszus, K. & Ricklefs, F. L., 01.07.2021, In: NEURO-ONCOLOGY. 23, 7, p. 1087-1099 13 p.

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

  11. Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers

    Borde, J., Ernst, C., Wappenschmidt, B., Niederacher, D., Weber-Lassalle, K., Schmidt, G., Hauke, J., Quante, A. S., Weber-Lassalle, N., Horváth, J., Pohl-Rescigno, E., Arnold, N., Rump, A., Gehrig, A., Hentschel, J., Faust, U., Dutrannoy, V., Meindl, A., Kuzyakova, M., Wang-Gohrke, S., Weber, B. H. F., Sutter, C., Volk, A. E., Giannakopoulou, O., Lee, A., Engel, C., Schmidt, M. K., Antoniou, A. C., Schmutzler, R. K., Kuchenbaecker, K. & Hahnen, E., 01.07.2021, In: JNCI-J NATL CANCER I. 113, 7, p. 893-899 7 p.

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

  12. 68Ga-FAPI-PET/CT improves diagnostic staging and radiotherapy planning of adenoid cystic carcinomas – Imaging analysis and histological validation

    Röhrich, M., Syed, M., Liew, D. P., Giesel, F. L., Liermann, J., Choyke, P. L., Wefers, A. K., Ritz, T., Szymbara, M., Schillings, L., Heger, U., Rathke, H., Kratochwil, C., Huber, P. E., Deimling, A. V., Debus, J., Kauczor, H-U., Haberkorn, U. & Adeberg, S., 07.2021, In: RADIOTHER ONCOL. 160, p. 192-201 10 p.

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

  13. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

    Kuseyri Hübschmann, O., Mohr, A., Friedman, J., Manti, F., Horvath, G., Cortès-Saladelafont, E., Mercimek-Andrews, S., Yildiz, Y., Pons, R., Kulhánek, J., Oppebøen, M., Koht, J. A., Podzamczer-Valls, I., Domingo-Jimenez, R., Ibáñez, S., Alcoverro-Fortuny, O., Gómez-Alemany, T., de Castro, P., Alfonsi, C., Zafeiriou, D. I., López-Laso, E., Guder, P., Santer, R., Honzík, T., Hoffmann, G. F., Garbade, S. F., Sivri, H. S., Leuzzi, V., Jeltsch, K., García-Cazorla, A., Opladen, T., Harting, I. & International Working Group on Neurotransmitter Related Disorders (iNTD), 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 1070-1082 13 p.

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

  14. Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

    Martin-Almedina, S., Ogmen, K., Sackey, E., Grigoriadis, D., Karapouliou, C., Nadarajah, N., Ebbing, C., Lord, J., Mellis, R., Kortuem, F., Dinulos, M. B., Polun, C., Bale, S., Atton, G., Robinson, A., Reigstad, H., Houge, G., von der Wense, A., Becker, W-H., Jeffery, S., Mortimer, P. S., Gordon, K., Josephs, K. S., Robart, S., Kilby, M. D., Vallee, S., Gorski, J. L., Hempel, M., Berland, S., Mansour, S. & Ostergaard, P., 07.2021, In: GENET MED. 23, 7, p. 1376-1377 2 p.

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

  15. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center

    Brunet, T., Jech, R., Brugger, M., Kovacs, R., Alhaddad, B., Leszinski, G., Riedhammer, K. M., Westphal, D. S., Mahle, I., Mayerhanser, K., Skorvanek, M., Weber, S., Graf, E., Berutti, R., Necpál, J., Havránková, P., Pavelekova, P., Hempel, M., Kotzaeridou, U., Hoffmann, G. F., Leiz, S., Makowski, C., Roser, T., Schroeder, S. A., Steinfeld, R., Strobl-Wildemann, G., Hoefele, J., Borggraefe, I., Distelmaier, F., Strom, T. M., Winkelmann, J., Meitinger, T., Zech, M. & Wagner, M., 07.2021, In: CLIN GENET. 100, 1, p. 14-28 15 p.

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

  16. Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients

    Schwering, C., Kammler, G., Wibbeler, E., Christner, M., Knobloch, J. K-M., Nickel, M., Denecke, J., Baehr, M. & Schulz, A., 07.2021, In: J CHILD NEUROL. 36, 8, p. 635-641 7 p.

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

  17. Feasibility of Proton Beam Therapy for Infants with Brain Tumours: Experiences from the Prospective KiProReg Registry Study

    Jazmati, D., Steinmeier, T., Ahamd Khalil, D., Frisch, S., Peters, S., Schulze Schleithoff, S., Bäumer, C., Rutkowski, S., Frühwald, M. C., Blase, C., Tippelt, S. & Timmermann, B., 07.2021, In: CLIN ONCOL-UK. 33, 7, p. e295-e304

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

  18. HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

    Laberko, A., Burlakov, V., Maier, S., Abinun, M., Skinner, R., Kozlova, A., Suri, D., Lehmberg, K., Müller, I., Balashov, D., Novichkova, G., Holzinger, D., Gennery, A. R. & Shcherbina, A., 07.2021, In: J ALLERGY CLIN IMMUN. 148, 1, p. 250-255.e1

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

  19. Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

    Giugliani, R., Muschol, N., Keenan, H. A., Dant, M. & Muenzer, J., 07.2021, In: ARCH DIS CHILD. 106, 7, p. 674-679 6 p.

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

  20. Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

    Martin-Almedina, S., Ogmen, K., Sackey, E., Grigoriadis, D., Karapouliou, C., Nadarajah, N., Ebbing, C., Lord, J., Mellis, R., Kortuem, F., Dinulos, M. B., Polun, C., Bale, S., Atton, G., Robinson, A., Reigstad, H., Houge, G., von der Wense, A., Becker, W-H., Jeffery, S., Mortimer, P. S., Gordon, K., Josephs, K. S., Robart, S., Kilby, M. D., Vallee, S., Gorski, J. L., Hempel, M., Berland, S., Mansour, S. & Ostergaard, P., 07.2021, In: GENET MED. 23, 7, p. 1315-1324 10 p.

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

  21. Management of CLN1 Disease: International Clinical Consensus

    Augustine, E. F., Adams, H. R., de Los Reyes, E., Drago, K., Frazier, M., Guelbert, N., Laine, M., Levin, T., Mink, J. W., Nickel, M., Peifer, D., Schulz, A., Simonati, A., Topcu, M., Turunen, J. A., Williams, R., Wirrell, E. C. & King, S., 07.2021, In: PEDIATR NEUROL. 120, p. 38-51 14 p.

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

  22. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

    Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., de Munnik, S., Bongers, E. M. H. F., Murray, J., Pachter, N., Denecke, J., Kutsche, K. & Bicknell, L. S., 07.2021, In: EUR J HUM GENET. 29, 7, p. 1110-1120 11 p.

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

  23. More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

    Kloth, K., Graul-Neumann, L., Hermann, K., Johannsen, J., Bierhals, T. & Kortüm, F., 07.2021, In: NEUROGENETICS. 22, 3, p. 221-224 4 p.

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

  24. Multicentric dermatofibrosarcoma protuberans in a child with severe combined immunodeficiency due to adenosine deaminase deficiency

    Wahjudi, T. D., Kutzner, H., Bleeke, M. & Hoeger, P. H., 07.2021, In: PEDIATR DERMATOL. 38, 4, p. 875-878 4 p.

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

  25. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

    Mütze, U., Henze, L., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Blessing, H., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, T., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Keller, M., Walter, M., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 857-870 14 p.

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

  26. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Cousin, M. A., Creighton, B. A., Breau, K. A., Spillmann, R. C., Torti, E., Dontu, S., Tripathi, S., Ajit, D., Edwards, R. J., Afriyie, S., Bay, J. C., Harper, K. M., Beltran, A. A., Munoz, L. J., Falcon Rodriguez, L., Stankewich, M. C., Person, R. E., Si, Y., Normand, E. A., Blevins, A., May, A. S., Bier, L., Aggarwal, V., Mancini, G. M. S., van Slegtenhorst, M. A., Cremer, K., Becker, J., Engels, H., Aretz, S., MacKenzie, J. J., Brilstra, E., van Gassen, K. L. I., van Jaarsveld, R. H., Oegema, R., Parsons, G. M., Mark, P., Helbig, I., McKeown, S. E., Stratton, R., Cogne, B., Isidor, B., Cacheiro, P., Smedley, D., Firth, H. V., Bierhals, T., Kloth, K., Weiss, D., Fairley, C., Shieh, J. T., Kritzer, A., Jayakar, P., Kurtz-Nelson, E., Bernier, R. A., Wang, T., Eichler, E. E., van de Laar, I. M. B. H., McConkie-Rosell, A., McDonald, M. T., Kemppainen, J., Lanpher, B. C., Schultz-Rogers, L. E., Gunderson, L. B., Pichurin, P. N., Yoon, G., Zech, M., Jech, R., Winkelmann, J., Beltran, A. S., Zimmermann, M. T., Temple, B., Moy, S. S., Klee, E. W., Tan, Q. K-G., Lorenzo, D. N. & Undiagnosed Diseases Network, 07.2021, In: NAT GENET. 53, 7, p. 1006-1021 16 p.

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

  27. Presence of donor specific HLA class 2 antibodies (DSA class 2) is associated with development of graft fibrosis more than 10 years after liver transplantation-a retrospective single center study

    Sultani, B., Marget, M., Briem-Richter, A., Herrmann, J., Meisner, S., Grabhorn, E. F., Ozga, A-K., Weidemann, S., Herden, U., Fischer, L. & Sterneck, M., 07.2021, In: CLIN TRANSPLANT. 35, 7, e14336.

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

  28. Severe toxicity free survival: physician-derived definitions of unacceptable long-term toxicities following acute lymphocytic leukaemia

    Andrés-Jensen, L., Attarbaschi, A., Bardi, E., Barzilai-Birenboim, S., Bhojwani, D., Hagleitner, M. M., Halsey, C., Harila-Saari, A., van Litsenburg, R. R. L., Hudson, M. M., Jeha, S., Kato, M., Kremer, L., Mlynarski, W., Möricke, A., Pieters, R., Piette, C., Raetz, E., Ronceray, L., Toro, C., Grazia Valsecchi, M., Vrooman, L. M., Weinreb, S., Winick, N., Schmiegelow, K. & Ponte di Legno Severe Toxicity Working Group, 07.2021, In: LANCET HAEMATOL. 8, 7, p. e513-e523 11 p.

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

  29. Short- and long-term results of liver transplantation according to age at transplant: a single-center experience of 351 children

    Özen, J., Beime, J., Brinkert, F., Fischer, L., Herden, U. & Grabhorn, E., 07.2021, In: TRANSPL INT. 34, 7, p. 1251-1260 10 p.

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

  30. TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype

    Cenni, C., Andres, S., Hempel, M., Strom, T. M., Thomas, E., Davies, A., Timoney, N., Frigiola, A., Logan, M. & Holder-Espinasse, M., 07.2021, In: EUR J MED GENET. 64, 7, 104213.

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

  31. T cell cytokines in the diagnostic of early-onset sepsis

    Froeschle, G. M., Bedke, T., Boettcher, M., Huber, S., Singer, D. & Ebenebe, C. U., 07.2021, In: PEDIATR RES. 90, 1, p. 191-196 6 p.

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

  32. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

    Grünert, S. C., Eckenweiler, M., Haas, D., Lindner, M., Tsiakas, K., Santer, R., Tucci, S. & Spiekerkoetter, U., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 893-902 10 p.

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

  33. Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report

    Apostolidou, S., Harbauer, T., Lasch, P., Biermann, D., Hempel, M., Lütgehetmann, M., Pfefferle, S., Herrmann, J., Rüffer, A., Reinshagen, K., Kozlik-Feldmann, R., Gieras, A., Kniep, I., Oh, J., Singer, D., Ebenebe, C. U. & Kobbe, R., 30.06.2021, In: CHILDREN-BASEL. 8, 7, 564.

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

  34. Genetic and Clinical Predictors of Left Atrial Thrombus: A Single Center Case-Control Study

    Springer, A., Schleberger, R., Oyen, F., Hoffmann, B. A., Willems, S., Meyer, C., Langer, F., Schnabel, R. B., Kirchhof, P., Schneppenheim, R. & Lemoine, M. D., 30.06.2021, In: CLIN APPL THROMB-HEM. 27, p. 10760296211021171

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

  35. Impact of donor-specific antibodies on long-term graft survival with pediatric liver transplantation

    Schotters, F. L., Beime, J., Briem-Richter, A., Binder, T., Herden, U. & Grabhorn, E. F., 27.06.2021, In: WORLD J HEPATOL. 13, 6, p. 673-685 13 p.

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

  36. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

    Ziegler, A., Duclaux-Loras, R., Revenu, C., Charbit-Henrion, F., Begue, B., Duroure, K., Grimaud, L., Guihot, A. L., Desquiret-Dumas, V., Zarhrate, M., Cagnard, N., Mas, E., Breton, A., Edouard, T., Billon, C., Frank, M., Colin, E., Lenaers, G., Henrion, D., Lyonnet, S., Faivre, L., Alembik, Y., Philippe, A., Moulin, B., Reinstein, E., Tzur, S., Attali, R., McGillivray, G., White, S. M., Gallacher, L., Kutsche, K., Schneeberger, P., Girisha, K. M., Nayak, S. S., Pais, L., Maroofian, R., Rad, A., Vona, B., Karimiani, E. G., Lekszas, C., Haaf, T., Martin, L., Ruemmele, F., Bonneau, D., Cerf-Bensussan, N., Del Bene, F. & Parlato, M., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1126-1137 12 p.

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

  37. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Cappuccio, G., Brunetti-Pierri, N., Kortüm, F., Hempel, M., Denecke, J., Lehman, A., CAUSES Study, Kleefstra, T., Stuurman, K. E., Wilke, M., Thompson, M. L., Bebin, E. M., Bijlsma, E. K., Hoffer, M. J. V., Peeters-Scholte, C., Slavotinek, A., Weiss, W. A., Yip, T., Hodoglugil, U., Whittle, A., diMonda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernández-Jaen, A., Pelayo, J. P., Klöckner, C., Kamphausen, S. B., Abou Jamra, R., Arelin, M., Innes, A. M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., de Burca, A., Kini, U., Delatycki, M. B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B. J., Robertson, S. P., Lyonnet, S., Amiel, J. & Gordon, C. T., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1138-1150 13 p.

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

  38. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Goodman, S. J., Siu, M. T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., de Vries, B. B. A., Deden, A. C., Leenders, E., Kwint, M., Stumpel, C. T. R. M., Stevens, S. J. C., Vermeulen, J. R., van Harssel, J. V. T., Bosch, D. G. M., van Gassen, K. L. I., van Binsbergen, E., de Geus, C. M., Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I. M., Yang, H., Zou, F., Millan, F., Person, R., Xie, Y., Liu, S., Ousager, L. B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Schmidt, B., Wilson, W. G., Õunap, K., Reinson, K., Pajusalu, S., van Haeringen, A., Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Míguez, M., Ritter, A., Bhoj, E., Tønne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M. J. M., Cohn, R. D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S. W., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Koolen, D. A. & Weksberg, R., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1053-1068 16 p.

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

  39. The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

    Bassanese, G., Wlodkowski, T., Servais, A., Heidet, L., Roccatello, D., Emma, F., Levtchenko, E., Ariceta, G., Bacchetta, J., Capasso, G., Jankauskiene, A., Miglinas, M., Ferraro, P. M., Montini, G., Oh, J., Decramer, S., Levart, T. K., Wetzels, J., Cornelissen, E., Devuyst, O., Zurowska, A., Pape, L., Buescher, A., Haffner, D., Marcun Varda, N., Ghiggeri, G. M., Remuzzi, G., Konrad, M., Longo, G., Bockenhauer, D., Awan, A., Andersone, I., Groothoff, J. W. & Schaefer, F., 02.06.2021, In: ORPHANET J RARE DIS. 16, 1, p. 251

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

  40. Local and Systemic Therapy of Recurrent Ependymoma in Children and Adolescents: Short- and Long-term Results of the E-HIT-REZ 2005 Study

    Adolph, J. E., Fleischhack, G., Mikasch, R., Zeller, J., Warmuth-Metz, M., Bison, B., Mynarek, M., Rutkowski, S., Schüller, U., von Hoff, K., Obrecht, D., Pietsch, T., Pfister, S. M., Pajtler, K. W., Witt, O., Witt, H., Kortmann, R-D., Timmermann, B., Krauß, J., Frühwald, M. C., Faldum, A., Kwiecien, R., Bode, U., Tippelt, S. & German GPOH HIT-Network, 01.06.2021, In: NEURO-ONCOLOGY. 23, 6, p. 1012-1023 12 p.

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

  41. Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target

    Larose, H., Prokoph, N., Matthews, J. D., Schlederer, M., Högler, S., Alsulami, A. F., Ducray, S. P., Nuglozeh, E., Fazaludeen, F. M. S., Elmouna, A., Ceccon, M., Mologni, L., Gambacorti-Passerini, C., Hoefler, G., Lobello, C., Pospisilova, S., Janikova, A., Woessmann, W., Damm-Welk, C., Zimmermann, M., Federova, A., Malone, A., Smith, O., Wasik, M., Inghirami, G., Lamant, L., Blundell, T. L., Klapper, W., Merkel, O., Burke, G. A. A., Mian, S., Ashankyty, I., Kenner, L. & Turner, S. D., 01.06.2021, In: HAEMATOLOGICA. 106, 6, p. 1693-1704 12 p.

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

  42. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

    Zarate, Y. A., Uehara, T., Abe, K., Oginuma, M., Harako, S., Ishitani, S., Lehesjoki, A-E., Bierhals, T., Kloth, K., Ehmke, N., Horn, D., Holtgrewe, M., Anderson, K., Viskochil, D., Edgar-Zarate, C. L., Sacoto, M. J. G., Schnur, R. E., Morrow, M. M., Sanchez-Valle, A., Pappas, J., Rabin, R., Muona, M., Anttonen, A-K., Platzer, K., Luppe, J., Gburek-Augustat, J., Kaname, T., Okamoto, N., Mizuno, S., Kaido, Y., Ohkuma, Y., Hirose, Y., Ishitani, T. & Kosaki, K., 06.2021, In: GENET MED. 23, 6, p. 1050-1057 8 p.

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

  43. Den Mangel überleben: Natürliche Anpassungen bei Neugeborenen

    Singer, D., 06.2021, In: Z GEBURTSH NEONATOL. 225, 3, p. 203-215 13 p.

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

  44. Diagnosis and management of fetal growth restriction: the ISUOG guideline and comparison with the SMFM guideline

    Lees, C., Stampalija, T. & Hecher, K., 06.2021, In: ULTRASOUND OBST GYN. 57, 6, p. 884-887 4 p.

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

  45. Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data

    Trefz, F., Muntau, A. C., Schneider, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Zeiss, C. & Rutsch, F., 06.2021, In: MOL GENET METAB REP. 27, p. 100764

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

  46. Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

    Johannsen, J., Weiss, D., Schlenker, F., Groth, M. & Denecke, J., 06.2021, In: NEUROPEDIATRICS. 52, 3, p. 179-185 7 p.

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

  47. Irradiation-free re-conditioning in children following graft failure of a T cell-depleted graft from a haploidentical parent

    Aydin, S., Kruchen, A., Wustrau, K., Doering, M., Schrum, J. & Müller, I., 06.2021, In: BONE MARROW TRANSPL. 56, 6, p. 1452-1454 3 p.

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

  48. Neurofibromatosis type 2 predisposes to ependymomas of various localization, histology, and molecular subtype

    Kresbach, C., Dorostkar, M. M., Suwala, A. K., Wefers, A. K., Schweizer, L., Engertsberger, L., Bison, B., Mynarek, M., Kloth-Stachnau, K., Spohn, M., von Deimling, A., Benesch, M., Hagel, C., Mautner, V-F., Rutkowski, S. & Schüller, U., 06.2021, In: ACTA NEUROPATHOL. 141, 6, p. 971-974 4 p.

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

  49. Simultaneous Brg1 Knockout and MYCN Overexpression in Cerebellar Granule Neuron Precursors Is Insufficient to Drive Tumor Formation but Temporarily Enhances their Proliferation and Delays their Migration

    Holdhof, D., On, J. H., Schoof, M., Göbel, C. & Schüller, U., 06.2021, In: CEREBELLUM. 20, 3, p. 410-419 10 p.

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

  50. Stereological Lung Parameters After Fetoscopic Abdominal Decompression of Congenital Diaphragmatic Hernia in an Ovine Model: A Pilot Study

    Bergholz, R., Fromm, F., Meinzer, A., Muehlfeld, C., Boettcher, M., Wenke, K., Tiemann, B., Reinshagen, K. & Krebs, T., 06.2021, In: J LAPAROENDOSC ADV S. 31, 6, p. 712-718 7 p.

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

  51. TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma

    Thomas, C., Thierfelder, F., Träger, M., Soschinski, P., Müther, M., Edelmann, D., Förster, A., Geiler, C., Kim, H-Y., Filipski, K., Harter, P. N., Schittenhelm, J., Eckert, F., Ntoulias, G., May, S-A., Stummer, W., Onken, J., Vajkoczy, P., Schüller, U., Heppner, F. L., Capper, D., Koch, A., Kaul, D., Paulus, W., Hasselblatt, M. & Schweizer, L., 06.2021, In: ACTA NEUROPATHOL. 141, 6, p. 959-970 12 p.

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

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