Center for Obstetrics and Pediatrics
Publications
- 2018
Pädiatrie hoch2
Muntau, A. C., 08.2018, 1 ed. München: Urban & Fischer. 680 p.Research output: Book/anthology › Collected edition/anthology
Pediatric acute lymphoblastic leukemia-Conquering the CNS across the choroid plexus
März, M., Meyer, S., Erb, U., Georgikou, C., Horstmann, M. A., Hetjens, S., Weiß, C., Fallier-Becker, P., Vandenhaute, E., Ishikawa, H., Schroten, H., Dürken, M. & Karremann, M., 08.2018, In: LEUKEMIA RES. 71, p. 47-54 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations
Koelsche, C., Mynarek, M., Schrimpf, D., Bertero, L., Serrano, J., Sahm, F., Reuss, D. E., Hou, Y., Baumhoer, D., Vokuhl, C., Flucke, U., Petersen, I., Brück, W., Rutkowski, S., Zambrano, S. C., Garcia Leon, J. L., Diaz Coronado, R. Y., Gessler, M., Tirado, O. M., Mora, J., Alonso, J., Garcia Del Muro, X., Esteller, M., Sturm, D., Ecker, J., Milde, T., Pfister, S. M., Korshunov, A., Snuderl, M., Mechtersheimer, G., Schüller, U., Jones, D. T. W. & von Deimling, A., 08.2018, In: ACTA NEUROPATHOL. 136, 2, p. 327-337 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Recent advances of animal model of focal segmental glomerulosclerosis
Yang, J. W., Dettmar, A. K., Kronbichler, A., Gee, H. Y., Saleem, M., Kim, S. H. & Shin, J. I., 08.2018, In: CLIN EXP NEPHROL. 22, 4, p. 752-763 12 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
ESCAPE Study Group, 08.2018, In: J PEDIATR-US. 199, p. 22-28.e6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cellular stress induces erythrocyte assembly on intravascular von Willebrand factor strings and promotes microangiopathy
Nicolay, J. P., Thorn, V., Daniel, C., Amann, K., Siraskar, B., Lang, F., Hillgruber, C., Goerge, T., Hoffmann, S., Gorzelanny, C., Huck, V., Mess, C., Obser, T., Schneppenheim, R., Fleming, I., Schneider, M. F. & Schneider, S. W., 19.07.2018, In: SCI REP-UK. 8, 1, p. 10945Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
Wyrwich, K. W., Schulz, A., Nickel, M., Slasor, P., Ajayi, T., Jacoby, D. & Kohlschütter, A., 16.07.2018, In: J Inborn Err Metab Scr (JIEMS). 6, p. 1-7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis
Breil, T., Boettcher, M., Hoffmann, G. F. & Ries, M., 16.07.2018, In: BMJ OPEN. 8, 7, p. e021684Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aquaporins and hypomethylation in endothelia: Implications in cardiovascular disease
Barroso, M., 05.07.2018, In: FEBS OPEN BIO.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
Schumacher, F. R., Al Olama, A. A., Berndt, S. I., Benlloch, S., Ahmed, M., Saunders, E. J., Dadaev, T., Leongamornlert, D., Anokian, E., Cieza-Borrella, C., Goh, C., Brook, M. N., Sheng, X., Fachal, L., Dennis, J., Tyrer, J., Muir, K., Lophatananon, A., Stevens, V. L., Gapstur, S. M., Carter, B. D., Tangen, C. M., Goodman, P. J., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G. P., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Håkansson, N., West, C. M. L., Dunning, A. M., Burnet, N., Mucci, L. A., Giovannucci, E., Andriole, G. L., Cussenot, O., Cancel-Tassin, G., Koutros, S., Beane Freeman, L. E., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Lu, Y-J., Zhang, H-W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., FitzGerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H-Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S-H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Singhal, S., Slavov, C., Mitev, V., Parliament, M., Claessens, F., Joniau, S., Van den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Dominguez, M. G., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K-T., Cannon-Albright, L., Pandha, H., Michael, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Cui, Z., Kraft, P., Amos, C. I., Conti, D. V., Easton, D. F., Wiklund, F., Chanock, S. J., Henderson, B. E., Kote-Jarai, Z., Haiman, C. A., Eeles, R. A., Profile Study, Australian Prostate Cancer BioResource (APCB), IMPACT Study, Canary PASS Investigators, Breast and Prostate Cancer Cohort Consortium (BPC3), PRACTICAL Consortium, Cancer of the Prostate in Sweden (CAPS), Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), Genetic Associations and Mechanisms in Oncology Consortium (GAME-ON) & Elucidating Loci Involved in Prostate Cancer Susceptibility Consortium (ELLIPSE), 07.2018, In: NAT GENET. 50, 7, p. 928-936 9 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Author Correction: The landscape of genomic alterations across childhood cancers
Gröbner, S. N., Worst, B. C., Weischenfeldt, J., Buchhalter, I., Kleinheinz, K., Rudneva, V. A., Johann, P. D., Balasubramanian, G. P., Segura-Wang, M., Brabetz, S., Bender, S., Hutter, B., Sturm, D., Pfaff, E., Hübschmann, D., Zipprich, G., Heinold, M., Eils, J., Lawerenz, C., Erkek, S., Lambo, S., Waszak, S., Blattmann, C., Borkhardt, A., Kuhlen, M., Eggert, A., Fulda, S., Gessler, M., Wegert, J., Kappler, R., Baumhoer, D., Burdach, S., Kirschner-Schwabe, R., Kontny, U., Kulozik, A. E., Lohmann, D., Hettmer, S., Eckert, C., Bielack, S., Nathrath, M., Niemeyer, C., Richter, G. H., Schulte, J., Siebert, R., Westermann, F., Molenaar, J. J., Vassal, G., Witt, H., Burkhardt, B., Kratz, C. P., Witt, O., van Tilburg, C. M., Kramm, C. M., Fleischhack, G., Dirksen, U., Rutkowski, S., Frühwald, M., von Hoff, K., Wolf, S., Klingebiel, T., Koscielniak, E., Landgraf, P., Koster, J., Resnick, A. C., Zhang, J., Liu, Y., Zhou, X., Waanders, A. J., Zwijnenburg, D. A., Raman, P., Brors, B., Weber, U. D., Northcott, P. A., Pajtler, K. W., Kool, M., Piro, R. M., Korbel, J. O., Schlesner, M., Eils, R., Jones, D. T. W., Lichter, P., Chavez, L., Zapatka, M., Pfister, S. M. & ICGC PedBrain-Seq Project, 07.2018, In: NATURE. 559, 7714, p. E10Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Best practices for the use of intracerebroventricular drug delivery devices
Slavc, I., Cohen-Pfeffer, J. L., Gururangan, S., Krauser, J., Lim, D. A., Maldaun, M., Schwering, C., Shaywitz, A. J. & Westphal, M., 07.2018, In: MOL GENET METAB. 124, 3, p. 184-188 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Integrated analysis of dynamic FET PET/CT parameters, histology, and methylation profiling of 44 gliomas
Röhrich, M., Huang, K., Schrimpf, D., Albert, N. L., Hielscher, T., von Deimling, A., Schüller, U., Dimitrakopoulou-Strauss, A. & Haberkorn, U., 07.2018, In: EUR J NUCL MED MOL I. 45, 9, p. 1573-1584 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term outcomes for monochorionic twins after laser therapy in twin-to-twin transfusion syndrome
Hecher, K., Gardiner, H. M., Diemert, A. & Bartmann, P., 07.2018, In: LANCET CHILD ADOLESC. 2, 7, p. 525-535 11 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity
Klaus, G., Taylan, C., Büscher, R., Schmitt, C. P., Pape, L., Oh, J., Driemeyer, J., Galiano, M., König, J., Schürfeld, C., Spitthöver, R., Schaefer, J. R., Weber, L. T., Heibges, A. & Klingel, R., 07.2018, In: PEDIATR NEPHROL. 33, 7, p. 1199-1208 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Recurrence of Ewing sarcoma: Is detection by imaging follow-up protocol associated with survival advantage?
Heinemann, M., Ranft, A., Langer, T., Jürgens, H., Kreyer, J., Vieth, V., Schäfers, M., Weckesser, M., Simon, T., Hassenpflug, W., Corbacioglu, S., Bielack, S., Mayer-Steinacker, R., Kühne, T., van den Berg, H., Gelderblom, H., Bauer, S., Stegger, L. & Dirksen, U., 07.2018, In: PEDIATR BLOOD CANCER. 65, 7, p. e27011Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Geoffroy, V., Stoetzel, C., Scheidecker, S., Schaefer, E., Perrault, I., Bär, S., Kröll, A., Delbarre, M., Antin, M., Leuvrey, A-S., Henry, C., Blanché, H., Decker, E., Kloth, K., Klaus, G., Mache, C., Martin-Coignard, D., McGinn, S., Boland, A., Deleuze, J-F., Friant, S., Saunier, S., Rozet, J-M., Bergmann, C., Dollfus, H. & Muller, J., 07.2018, In: HUM MUTAT. 39, 7, p. 983-992 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Analysis of shared heritability in common disorders of the brain
Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., Malik, R., Patsopoulos, N. A., Ripke, S., Wei, Z., Yu, D., Lee, P. H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., Berr, C., Letenneur, L., Hannequin, D., Amouyel, P., Boland, A., Deleuze, J-F., Duron, E., Vardarajan, B. N., Reitz, C., Goate, A. M., Huentelman, M. J., Kamboh, M. I., Larson, E. B., Rogaeva, E., St George-Hyslop, P., Hakonarson, H., Kukull, W. A., Farrer, L. A., Barnes, L. L., Beach, T. G., Demirci, F. Y., Head, E., Hulette, C. M., Jicha, G. A., Kauwe, J. S. K., Kaye, J. A., Leverenz, J. B., Levey, A. I., Lieberman, A. P., Pankratz, V. S., Poon, W. W., Quinn, J. F., Saykin, A. J., Schneider, L. S., Smith, A. G., Sonnen, J. A., Stern, R. A., Van Deerlin, V. M., Van Eldik, L. J., Harold, D., Russo, G., Rubinsztein, D. C., Bayer, A., Tsolaki, M., Proitsi, P., Fox, N. C., Hampel, H., Owen, M. J., Mead, S., Passmore, P., Morgan, K., Nöthen, M. M., Rossor, M., Lupton, M. K., Hoffmann, P., Kornhuber, J., Lawlor, B., McQuillin, A., Al-Chalabi, A., Bis, J. C., Ruiz, A., Boada, M., Seshadri, S., Beiser, A., Rice, K., van der Lee, S. J., De Jager, P. L., Geschwind, D. H., Riemenschneider, M., Riedel-Heller, S., Rotter, J. I., Ransmayr, G., Hyman, B. T., Cruchaga, C., Alegret, M., Winsvold, B., Palta, P., Farh, K-H., Cuenca-Leon, E., Furlotte, N., Kurth, T., Ligthart, L., Terwindt, G. M., Freilinger, T., Ran, C., Gordon, S. D., Borck, G., Adams, H. H. H., Lehtimäki, T., Wedenoja, J., Buring, J. E., Schürks, M., Hrafnsdottir, M., Hottenga, J-J., Penninx, B., Artto, V., Kaunisto, M., Vepsäläinen, S., Martin, N. G., Montgomery, G. W., Kurki, M. I., Hämäläinen, E., Huang, H., Huang, J., Sandor, C., Webber, C., Muller-Myhsok, B., Schreiber, S., Salomaa, V., Loehrer, E., Göbel, H., Macaya, A., Pozo-Rosich, P., Hansen, T., Werge, T., Kaprio, J., Metspalu, A., Kubisch, C., Ferrari, M. D., Belin, A. C., van den Maagdenberg, A. M. J. M., Zwart, J-A., Boomsma, D., Eriksson, N., Olesen, J., Chasman, D. I., Nyholt, D. R., Avbersek, A., Baum, L., Berkovic, S., Bradfield, J., Buono, R., Catarino, C. B., Cossette, P., De Jonghe, P., Depondt, C., Dlugos, D., Ferraro, T. N., French, J., Hjalgrim, H., Jamnadas-Khoda, J., Kälviäinen, R., Kunz, W. S., Lerche, H., Leu, C., Lindhout, D., Lo, W., Lowenstein, D., McCormack, M., Møller, R. S., Molloy, A., Ng, P-W., Oliver, K., Privitera, M., Radtke, R., Ruppert, A-K., Sander, T., Schachter, S., Schankin, C., Scheffer, I., Schoch, S., Sisodiya, S. M., Smith, P., Sperling, M., Striano, P., Surges, R., Thomas, G. N., Visscher, F., Whelan, C. D., Zara, F., Heinzen, E. L., Marson, A., Becker, F., Stroink, H., Zimprich, F., Gasser, T., Gibbs, R., Heutink, P., Martinez, M., Morris, H. R., Sharma, M., Ryten, M., Mok, K. Y., Pulit, S., Bevan, S., Holliday, E., Attia, J., Battey, T., Boncoraglio, G., Thijs, V., Chen, W-M., Mitchell, B., Rothwell, P., Sharma, P., Sudlow, C., Vicente, A., Markus, H., Kourkoulis, C., Pera, J., Raffeld, M., Silliman, S., Boraska Perica, V., Thornton, L. M., Huckins, L. M., William Rayner, N., Lewis, C. M., Gratacos, M., Rybakowski, F., Keski-Rahkonen, A., Raevuori, A., Hudson, J. I., Reichborn-Kjennerud, T., Monteleone, P., Karwautz, A., Mannik, K., Baker, J. H., O'Toole, J. K., Trace, S. E., Davis, O. S. P., Helder, S. G., Ehrlich, S., Herpertz-Dahlmann, B., Danner, U. N., van Elburg, A. A., Clementi, M., Forzan, M., Docampo, E., Lissowska, J., Hauser, J., Tortorella, A., Maj, M., Gonidakis, F., Tziouvas, K., Papezova, H., Yilmaz, Z., Wagner, G., Cohen-Woods, S., Herms, S., Julià, A., Rabionet, R., Dick, D. M., Ripatti, S., Andreassen, O. A., Espeseth, T., Lundervold, A. J., Steen, V. M., Pinto, D., Scherer, S. W., Aschauer, H., Schosser, A., Alfredsson, L., Padyukov, L., Halmi, K. A., Mitchell, J., Strober, M., Bergen, A. W., Kaye, W., Szatkiewicz, J. P., Cormand, B., Ramos-Quiroga, J. A., Sánchez-Mora, C., Ribasés, M., Casas, M., Hervas, A., Arranz, M. J., Haavik, J., Zayats, T., Johansson, S., Williams, N., Dempfle, A., Rothenberger, A., Kuntsi, J., Oades, R. D., Banaschewski, T., Franke, B., Buitelaar, J. K., Arias Vasquez, A., Doyle, A. E., Reif, A., Lesch, K-P., Freitag, C., Rivero, O., Palmason, H., Romanos, M., Langley, K., Rietschel, M., Witt, S. H., Dalsgaard, S., Børglum, A. D., Waldman, I., Wilmot, B., Molly, N., Bau, C. H. D., Crosbie, J., Schachar, R., Loo, S. K., McGough, J. J., Grevet, E. H., Medland, S. E., Robinson, E., Weiss, L. A., Bacchelli, E., Bailey, A., Bal, V., Battaglia, A., Betancur, C., Bolton, P., Cantor, R., Celestino-Soper, P., Dawson, G., De Rubeis, S., Duque, F., Green, A., Klauck, S. M., Leboyer, M., Levitt, P., Maestrini, E., Mane, S., De-Luca, D. M., Parr, J., Regan, R., Reichenberg, A., Sandin, S., Vorstman, J., Wassink, T., Wijsman, E., Cook, E., Santangelo, S., Delorme, R., Rogé, B., Magalhaes, T., Arking, D., Schulze, T. G., Thompson, R. C., Strohmaier, J., Matthews, K., Melle, I., Morris, D., Blackwood, D., McIntosh, A., Bergen, S. E., Schalling, M., Jamain, S., Maaser, A., Fischer, S. B., Reinbold, C. S., Fullerton, J. M., Guzman-Parra, J., Mayoral, F., Schofield, P. R., Cichon, S., Mühleisen, T. W., Degenhardt, F., Schumacher, J., Bauer, M., Mitchell, P. B., Gershon, E. S., Rice, J., Potash, J. B., Zandi, P. P., Craddock, N., Ferrier, I. N., Alda, M., Rouleau, G. A., Turecki, G., Ophoff, R., Pato, C., Anjorin, A., Stahl, E., Leber, M., Czerski, P. M., Cruceanu, C., Jones, I. R., Posthuma, D., Andlauer, T. F. M., Forstner, A. J., Streit, F., Baune, B. T., Air, T., Sinnamon, G., Wray, N. R., MacIntyre, D. J., Porteous, D., Homuth, G., Rivera, M., Grove, J., Middeldorp, C. M., Hickie, I., Pergadia, M., Mehta, D., Smit, J. H., Jansen, R., de Geus, E., Dunn, E., Li, Q. S., Nauck, M., Schoevers, R. A., Beekman, A. T., Knowles, J. A., Viktorin, A., Arnold, P., Barr, C. L., Bedoya-Berrio, G., Bienvenu, O. J., Brentani, H., Burton, C., Camarena, B., Cappi, C., Cath, D., Cavallini, M., Cusi, D., Darrow, S., Denys, D., Derks, E. M., Dietrich, A., Fernandez, T., Figee, M., Freimer, N., Gerber, G., Grados, M., Greenberg, E., Hanna, G. L., Hartmann, A., Hirschtritt, M. E., Hoekstra, P. J., Huang, A., Huyser, C., Illmann, C., Jenike, M., Kuperman, S., Leventhal, B., Lochner, C., Lyon, G. J., Macciardi, F., Madruga-Garrido, M., Malaty, I. A., Maras, A., McGrath, L., Miguel, E. C., Mir, P., Nestadt, G., Nicolini, H., Okun, M. S., Pakstis, A., Paschou, P., Piacentini, J., Pittenger, C., Plessen, K., Ramensky, V., Ramos, E. M., Reus, V., Richter, M. A., Riddle, M. A., Robertson, M. M., Roessner, V., Rosário, M., Samuels, J. F., Sandor, P., Stein, D. J., Tsetsos, F., Van Nieuwerburgh, F., Weatherall, S., Wendland, J. R., Wolanczyk, T., Worbe, Y., Zai, G., Goes, F. S., McLaughlin, N., Nestadt, P. S., Grabe, H-J., Depienne, C., Konkashbaev, A., Lanzagorta, N., Valencia-Duarte, A., Bramon, E., Buccola, N., Cahn, W., Cairns, M., Chong, S. A., Cohen, D., Crespo-Facorro, B., Crowley, J., Davidson, M., DeLisi, L., Dinan, T., Donohoe, G., Drapeau, E., Duan, J., Haan, L., Hougaard, D., Karachanak-Yankova, S., Khrunin, A., Klovins, J., Kučinskas, V., Lee Chee Keong, J., Limborska, S., Loughland, C., Lönnqvist, J., Maher, B., Mattheisen, M., McDonald, C., Murphy, K. C., Nenadic, I., van Os, J., Pantelis, C., Pato, M., Petryshen, T., Quested, D., Roussos, P., Sanders, A. R., Schall, U., Schwab, S. G., Sim, K., So, H-C., Stögmann, E., Subramaniam, M., Toncheva, D., Waddington, J., Walters, J., Weiser, M., Cheng, W., Cloninger, R., Curtis, D., Gejman, P. V., Henskens, F., Mattingsdal, M., Oh, S-Y., Scott, R., Webb, B., Breen, G., Churchhouse, C., Bulik, C. M., Daly, M., Dichgans, M., Faraone, S. V., Guerreiro, R., Holmans, P., Kendler, K. S., Koeleman, B., Mathews, C. A., Price, A., Scharf, J., Sklar, P., Williams, J., Wood, N. W., Cotsapas, C., Palotie, A., Smoller, J. W., Sullivan, P., Rosand, J., Corvin, A., Neale, B. M., Schott, J. M., Anney, R., Elia, J., Grigoroiu-Serbanescu, M., Edenberg, H. J., Murray, R. & Brainstorm Consortium, 22.06.2018, In: SCIENCE. 360, 6395, p. 1313-+Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Integrated Molecular Characterization of Testicular Germ Cell Tumors
Shen, H., Shih, J., Hollern, D. P., Wang, L., Bowlby, R., Tickoo, S. K., Thorsson, V., Mungall, A. J., Newton, Y., Hegde, A. M., Armenia, J., Sánchez-Vega, F., Pluta, J., Pyle, L. C., Mehra, R., Reuter, V. E., Godoy, G., Jones, J., Shelley, C. S., Feldman, D. R., Vidal, D. O., Lessel, D., Kulis, T., Cárcano, F. M., Leraas, K. M., Lichtenberg, T. M., Brooks, D., Cherniack, A. D., Cho, J., Heiman, D. I., Kasaian, K., Liu, M., Noble, M. S., Xi, L., Zhang, H., Zhou, W., ZenKlusen, J. C., Hutter, C. M., Felau, I., Zhang, J., Schultz, N., Getz, G., Meyerson, M., Stuart, J. M., Akbani, R., Wheeler, D. A., Laird, P. W., Nathanson, K. L., Cortessis, V. K., Hoadley, K. A. & Cancer Genome Atlas Research Network, 12.06.2018, In: CELL REP. 23, 11, p. 3392-3406 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Dadaev, T., Saunders, E. J., Newcombe, P. J., Anokian, E., Leongamornlert, D. A., Brook, M. N., Cieza-Borrella, C., Mijuskovic, M., Wakerell, S., Olama, A. A. A., Schumacher, F. R., Berndt, S. I., Benlloch, S., Ahmed, M., Goh, C., Sheng, X., Zhang, Z., Muir, K., Govindasami, K., Lophatananon, A., Stevens, V. L., Gapstur, S. M., Carter, B. D., Tangen, C. M., Goodman, P., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Hakansson, N., West, C., Dunning, A. M., Burnet, N., Mucci, L., Giovannucci, E., Andriole, G., Cussenot, O., Cancel-Tassin, G., Koutros, S., Freeman, L. E. B., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B., Kerns, S., Ostrer, H., Lu, Y-J., Zhang, H-W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., FitzGerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Fachal, L., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H-Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weisher, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S-H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Slavov, C., Mitev, V., Parliament, M., Singhal, S., Claessens, F., Joniau, S., Van den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K-T., Cannon-Albright, L., Pandha, H., Michael, A., Kierzek, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Kraft, P., Freedman, M., Wiklund, F., Chanock, S., Henderson, B. E., Easton, D. F., Haiman, C. A., Eeles, R. A., Conti, D. V., Kote-Jarai, Z. & PRACTICAL Consortium, 11.06.2018, In: NAT COMMUN. 9, 1, p. 2256Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
Piard, J., Essien Umanah, G. K., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.06.2018, In: BRAIN. 141, 6, p. e50Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
An optimized whole blood assay measuring expression and activity of NLRP3, NLRC4 and AIM2 inflammasomes
Grinstein, L., Endter, K., Hedrich, C. M., Reinke, S., Luksch, H., Schulze, F., Robertson, A. A. B., Cooper, M. A., Rösen-Wolff, A. & Winkler, S., 06.2018, In: CLIN IMMUNOL. 191, p. 100-109 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
Chapman, K. A., Gramer, G., Viall, S. & Summar, M. L., 06.2018, In: MOL GENET METAB REP. 15, p. 106-109 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Inflammatory myofibroblastic tumors-A retrospective analysis of the Cooperative Weichteilsarkom Studiengruppe
Kube, S., Vokuhl, C., Dantonello, T., Scheer, M., Hallmen, E., Feuchtgruber, S., Escherich, G., Niggli, F., Kuehnle, I., von Kalle, T., Bielack, S., Klingebiel, T. & Koscielniak, E., 06.2018, In: PEDIATR BLOOD CANCER. 65, 6, p. e27012Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome
Trah, J., Has, C., Hausser, I., Kutzner, H., Reinshagen, K. & Königs, I., 06.2018, In: DERMATOLOGY THER. 8, 2, p. 313-321 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
Bierhals, T., Korenke, G. C., Baethmann, M., Marín, L. L., Staudt, M. & Kutsche, K., 06.2018, In: EUR J MED GENET. 61, 6, p. 329-334 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome of renal transplantation in small infants: a match-controlled analysis
Weitz, M., Laube, G. F., Schmidt, M., Krupka, K., Murer, L., Müller, D., Hoppe, B., Büscher, A., König, J., Pohl, M., Jungraithmayr, T., Thiel, F., Billing, H., Grenda, R., Rubik, J., Kaabak, M. M., Yalcinkaya, F., Topaloglu, R., Webb, N., Dello Strologo, L., Pape, L., Nadalin, S. & Tönshoff, B., 06.2018, In: PEDIATR NEPHROL. 33, 6, p. 1057-1068 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
p.D313Y is more than just a polymorphism in Fabry disease
du Moulin, M. & Muschol, N., 06.2018, In: CLIN GENET. 93, 6, p. 1258Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Recessive mutations in >VPS13D cause childhood-onset movement disorders
Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., Carecchio, M., Lubbe, S. J., Telegrafi, A., Henderson, L. B., Lorenzo, K., Wallace, S. E., Glass, I. A., Hamdan, F. F., Michaud, J. L., Rouleau, G. A. & Campeau, P. M., 06.2018, In: ANN NEUROL. 83, 6, p. 1089-1095 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Reduced circulating B cells and plasma IgM levels are associated with decreased survival in sepsis - A meta-analysis
Krautz, C., Maier, S. L., Brunner, M., Langheinrich, M., Giamarellos-Bourboulis, E. J., Gogos, C., Armaganidis, A., Kunath, F., Grützmann, R. & Weber, G. F., 06.2018, In: J CRIT CARE. 45, p. 71-75 5 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
Waszak, S. M., Northcott, P. A., Buchhalter, I., Robinson, G. W., Sutter, C., Groebner, S., Grund, K. B., Brugières, L., Jones, D. T. W., Pajtler, K. W., Morrissy, A. S., Kool, M., Sturm, D., Chavez, L., Ernst, A., Brabetz, S., Hain, M., Zichner, T., Segura-Wang, M., Weischenfeldt, J., Rausch, T., Mardin, B. R., Zhou, X., Baciu, C., Lawerenz, C., Chan, J. A., Varlet, P., Guerrini-Rousseau, L., Fults, D. W., Grajkowska, W., Hauser, P., Jabado, N., Ra, Y-S., Zitterbart, K., Shringarpure, S. S., De La Vega, F. M., Bustamante, C. D., Ng, H-K., Perry, A., MacDonald, T. J., Hernáiz Driever, P., Bendel, A. E., Bowers, D. C., McCowage, G., Chintagumpala, M. M., Cohn, R., Hassall, T., Fleischhack, G., Eggen, T., Wesenberg, F., Feychting, M., Lannering, B., Schüz, J., Johansen, C., Andersen, T. V., Röösli, M., Kuehni, C. E., Grotzer, M., Kjaerheim, K., Monoranu, C. M., Archer, T. C., Duke, E., Pomeroy, S. L., Shelagh, R., Frank, S., Sumerauer, D., Scheurlen, W., Ryzhova, M. V., Milde, T., Kratz, C. P., Samuel, D., Zhang, J., Solomon, D. A., Marra, M., Eils, R., Bartram, C. R., von Hoff, K., Rutkowski, S., Ramaswamy, V., Gilbertson, R. J., Korshunov, A., Taylor, M. D., Lichter, P., Malkin, D., Gajjar, A., Korbel, J. O. & Pfister, S. M., 06.2018, In: LANCET ONCOL. 19, 6, p. 785-798 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort
Nemes, K., Clément, N., Kachanov, D., Bens, S., Hasselblatt, M., Timmermann, B., Schneppenheim, R., Gerss, J., Siebert, R., Furtwängler, R., Bourdeaut, F., Frühwald, M. C. & EU-RHAB consortium, 06.2018, In: PEDIATR BLOOD CANCER. 65, p. e26999Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., Kohlschütter, A. & CLN2 Study Group, 17.05.2018, In: NEW ENGL J MED. 378, 20, p. 1898-1907 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
Danyukova, T., Ariunbat, K., Thelen, M., Brocke-Ahmadinejad, N., Mole, S. E. & Storch, S., 15.05.2018, In: HUM MOL GENET. 27, 10, p. 1711-1722 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
Eichinger, A., Danecka, M. K., Möglich, T., Borsch, J., Woidy, M., Büttner, L., Muntau, A. C. & Gersting, S. W., 15.05.2018, In: HUM MOL GENET. 27, 10, p. 1732-1742 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., 05.2018, In: EUR J HUM GENET. 26, 5, p. 695-708 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comment on: "Successful use of nitrous oxide during lumbar punctures: A call for nitrous oxide in pediatric oncology clinics"
Forster, V., Escherich, G. & Halsey, C., 05.2018, In: PEDIATR BLOOD CANCER. 65, 5, p. e26930Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
DCE MRI reveals early decreased and later increased placenta perfusion after a stress challenge during pregnancy in a mouse model
Remus, C. C., Kording, F., Arck, P., Solano, E., Sedlacik, J., Adam, G., Hecher, K. & Forkert, N. D., 05.2018, In: PLACENTA. 65, p. 15-19 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Duration to Establish an Emergency Vascular Access and How to Accelerate It: A Simulation-Based Study Performed in Real-Life Neonatal Resuscitation Rooms
Schwindt, E. M., Hoffmann, F., Deindl, P., Waldhoer, T. J. & Schwindt, J. C., 05.2018, In: PEDIATR CRIT CARE ME. 19, 5, p. 468-476 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Inborn errors of metabolism and the human interactome: a systems medicine approach
Woidy, M., Muntau, A. C. & Gersting, S. W., 05.2018, In: J INHERIT METAB DIS. 41, 3, p. 285-296 12 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Newborn screening, a disease-changing intervention for glutaric aciduria type 1
Boy, N., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grünert, S. C., Vossbeck, J., Steinfeld, R., Baumgartner, M. R., Beblo, S., Dieckmann, A., Näke, A., Lindner, M., Heringer, J., Hoffmann, G. F., Mühlhausen, C., Maier, E. M., Ensenauer, R., Garbade, S. F. & Kölker, S., 05.2018, In: ANN NEUROL. 83, 5, p. 970-979 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Psychologische Grundlagen der pädiatrischen Lebertransplantation
Petersen, I., Dechow, A. S. & Schulz, K-H., 05.2018, In: PSYCHOTHER PSYCH MED. 68, 5, p. 212-224 13 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Psychosoziale Evaluation von Transplantationspatienten – Empfehlungen für die Richtlinien zur Organtransplantation
Kröncke, S., Greif-Higer, G., Albert, W., de Zwaan, M., Erim, Y., Eser-Valeri, D., Papachristou, C., Petersen, I., Schulz, K-H., Tigges-Limmer, K., Vitinius, F., Ziegler, K. & Künsebeck, H-W., 05.2018, In: PSYCHOTHER PSYCH MED. 68, 5, p. 179-184 6 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Meyer Zum Büschenfelde, U., Brandenstein, L. I., von Elsner, L., Flato, K., Holling, T., Zenker, M., Rosenberger, G. & Kutsche, K., 05.2018, In: PLOS GENET. 14, 5, p. e1007370Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
Rosenbohm, A., Hirsch, S., Volk, A. E., Grehl, T., Grosskreutz, J., Hanisch, F., Herrmann, A., Kollewe, K., Kress, W., Meyer, T., Petri, S., Prudlo, J., Wessig, C., Müller, H-P., Dreyhaupt, J., Weishaupt, J., Kubisch, C., Kassubek, J., Weydt, P. & Ludolph, A. C., 05.2018, In: J NEUROL. 265, 5, p. 1026-1036 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nephrotic Syndrome: Genetics, Mechanism, and Therapies
Shin, J. I., Kronbichler, A., Oh, J. & Meijers, B., 20.04.2018, In: BIOMED RES INT . 2018, p. 6215946Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
The phosphotyrosine phosphatase SHP2 promotes anergy in chronic lymphocytic leukemia
Schliffke, S., Buhs, S., Bolz, S., Gerull, H., von Wenserski, L., Riecken, K., Fehse, B., Nollau, P. & Binder, M., 12.04.2018, In: BLOOD. 131, 15, p. 1755-1758 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CD32 Expression of Different Memory T Cell Subpopulations in the Blood and Lymph Nodal Tissue of HIV Patients and Healthy Controls Correlates With Immune Activation
Wittner, M., Dunay, G. A., Kummer, S., Bockhorn, M., Hüfner, A., Schmiedel, S., Degen, O., van Lunzen, J., Eberhard, J. M. & Schulze Zur Wiesch, J., 01.04.2018, In: JAIDS-J ACQ IMM DEF. 77, 4, p. 345-349 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
Danyel, M., Kortüm, F., Dathe, K., Kutsche, K. & Horn, D., 04.2018, In: AM J MED GENET A. 176, 4, p. 992-996 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Causes of renal oligohydramnios - impact on prenatal counseling and postnatal outcome
Loos, S. & Kemper, M. J., 04.2018, In: PEDIATR NEPHROL. 33, 4, p. 541-545 5 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research