Center for Obstetrics and Pediatrics
Publications
- 2016
Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors
Torchia, J., Golbourn, B., Feng, S., Ho, K. C., Sin-Chan, P., Vasiljevic, A., Norman, J. D., Guilhamon, P., Garzia, L., Agamez, N. R., Lu, M., Chan, T. S., Picard, D., de Antonellis, P., Khuong-Quang, D-A., Planello, A. C., Zeller, C., Barsyte-Lovejoy, D., Lafay-Cousin, L., Letourneau, L., Bourgey, M., Yu, M., Gendoo, D. M. A., Dzamba, M., Barszczyk, M., Medina, T., Riemenschneider, A. N., Morrissy, A. S., Ra, Y-S., Ramaswamy, V., Remke, M., Dunham, C. P., Yip, S., Ng, H-K., Lu, J-Q., Mehta, V., Albrecht, S., Pimentel, J., Chan, J. A., Somers, G. R., Faria, C. C., Roque, L., Fouladi, M., Hoffman, L. M., Moore, A. S., Wang, Y., Choi, S. A., Hansford, J. R., Catchpoole, D., Birks, D. K., Foreman, N. K., Strother, D., Klekner, A., Bognár, L., Garami, M., Hauser, P., Hortobágyi, T., Wilson, B., Hukin, J., Carret, A-S., Van Meter, T. E., Hwang, E. I., Gajjar, A., Chiou, S-H., Nakamura, H., Toledano, H., Fried, I., Fults, D., Wataya, T., Fryer, C., Eisenstat, D. D., Scheinemann, K., Fleming, A. J., Johnston, D. L., Michaud, J., Zelcer, S., Hammond, R., Afzal, S., Ramsay, D. A., Sirachainan, N., Hongeng, S., Larbcharoensub, N., Grundy, R. G., Lulla, R. R., Fangusaro, J. R., Druker, H., Bartels, U., Grant, R., Malkin, D., McGlade, C. J., Nicolaides, T., Tihan, T., Phillips, J., Majewski, J., Montpetit, A., Bourque, G., Bader, G. D., Reddy, A. T., Gillespie, G. Y., Warmuth-Metz, M., Rutkowski, S., Tabori, U., Lupien, M., Brudno, M., Schüller, U., Pietsch, T., Judkins, A. R., Hawkins, C. E., Bouffet, E., Kim, S-K., Dirks, P. B., Taylor, M. D., Erdreich-Epstein, A., Arrowsmith, C. H., De Carvalho, D. D., Rutka, J. T., Jabado, N. & Huang, A., 12.12.2016, In: CANCER CELL. 30, 6, p. 891-908 18 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Current Controversies in Prenatal Diagnosis 1: In utero therapy for spina bifida is ready for endoscopic repair
Belfort, M., Deprest, J. & Hecher, K., 12.2016, In: PRENATAL DIAG. 36, 13, p. 1161-1166Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family
Pinheiro, A., Silva, M. J., Pavlu-Pereira, H., Florindo, C., Barroso, M., Marques, B., Correia, H., Oliveira, A., Gaspar, A., Tavares de Almeida, I. & Rivera, I., 12.2016, In: DATA BRIEF. 9, p. 68-77 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferase
Velho, R. V., De Pace, R., Tidow, H., Braulke, T. & Pohl, S., 12.2016, In: FEBS LETT. 590, 23, p. 4287-4295 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study
Li, Y., Buijs-Gladdines, J. G. C. A. M., Canté-Barrett, K., Stubbs, A. P., Vroegindeweij, E. M., Smits, W. K., van Marion, R., Dinjens, W. N. M., Horstmann, M., Kuiper, R. P., Buijsman, R. C., Zaman, G. J. R., van der Spek, P. J., Pieters, R. & Meijerink, J. P. P., 12.2016, In: PLOS MED. 13, 12, p. e1002200Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor
Stahn, V., Nagel, I., Fischer-Huchzermeyer, S., Oyen, F., Schneppenheim, R., Gesk, S., Bohring, A., Chikobava, L., Young, P., Gess, B., Werner, M., Senner, V. & Harder, A., 12.2016, In: AM J PATHOL. 186, 12, p. 3285-3296 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, M. C., Goldgar, D. E., Winqvist, R., Pylkäs, K., Couch, F., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J. L., Dörk, T., Claes, K. B., Reis-Filho, J. S., Teo, Z. L., Radice, P., Catucci, I., Peterlongo, P., Tsimiklis, H., Odefrey, F. A., Dowty, J. G., Schmidt, M. K., Broeks, A., Hogervorst, F. B. L., Verhoef, S., Carpenter, J. E., Clarke, C. L., Scott, R. J., Fasching, P. A., Haeberle, L., Ekici, A. B., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M. K., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Burwinkel, B., Yang, R., Guénel, P., Truong, T., Menegaux, F., Sanchez, M., Bojesen, S. E., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, M. P., Perez, J. I. A., Menéndez, P., Anton-Culver, H., Neuhausen, S. L., Ziogas, A., Clarke, C. A., Brenner, H., Arndt, V., Stegmaier, C., Brauch, H., Brüning, T., Ko, Y-D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Bogdanova, N. V., Antonenkova, N., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J. M., Spurdle, A. B., Investigators, K., Wauters, E., Smeets, D., Beuselinck, B., Floris, G., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Olson, J. E., Vachon, C., Pankratz, V. S., McLean, C., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Kristensen, V., Alnæs, G. G., Zheng, W., Hunter, D. J., Lindstrom, S., Hankinson, S. E., Kraft, P., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Jukkola-Vuorinen, A., Grip, M., Kauppila, S., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Hollestelle, A., Garcia-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Darabi, H., Eriksson, M., Eccles, D. M., Rafiq, S., Tapper, W. J., Gerty, S. M., Hooning, M. J., Martens, J. W. M., Collée, J. M., Tilanus-Linthorst, M., Hall, P., Li, J., Brand, J. S., Humphreys, K., Cox, A., Reed, M. W. R., Luccarini, C., Baynes, C., Dunning, A. M., Hamann, U., Torres, D., Ulmer, H. U., Rüdiger, T., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., González-Neira, A., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., Simard, J., Dumont, M., Soucy, P., Eeles, R., Muir, K., Wiklund, F., Gronberg, H., Schleutker, J., Nordestgaard, B. G., Weischer, M., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Khaw, K-T., Stanford, J. L., Blot, W. J., Thibodeau, S. N., Schaid, D. J., Kelley, J. L., Maier, C., Kibel, A. S., Cybulski, C., Cannon-Albright, L. A., Butterbach, K., Park, J-S., Kaneva, R., Batra, J., Teixeira, M. R., Kote-Jarai, ZS., Olama, A. A. A., Benlloch, S., Renner, S. P., Hartmann, A., Hein, A., Ruebner, M., Lambrechts, D., van Nieuwenhuysen, E., Vergote, I., Lambretchs, S., Doherty, J. A., Rossing, M. A., Nickels, S., Eilber, U., Wang-Gohrke, S., Odunsi, K., Sucheston-Campbell, L. E., Friel, G., Lurie, G., Killeen, J. L., Wilkens, L. R., Goodman, M. T., Runnebaum, I., Hillemanns, P. A., Pelttari, L. M., Butzow, R., Modugno, F., Edwards, R. P., Ness, R. B., Moysich, K. B., du Bois, A., Heitz, F., Harter, P., Kommoss, S., Karlan, B. Y., Walsh, C., Lester, J., Jensen, A., Kjaer, S. K., Høgdall, E., Peissel, B., Bonanni, B., Bernard, L., Goode, E. L., Fridley, B. L., Vierkant, R. A., Cunningham, J. M., Larson, M. C., Fogarty, Z. C., Kalli, K. R., Liang, D., Lu, K. H., T Hildebrandt, M. A., Wu, X., Levine, D. A., Dao, F., Bisogna, M., Berchuck, A., Iversen, E. S., Marks, J. R., Akushevich, L., Cramer, D. W., Schildkraut, J. M., Terry, K. L., Poole, E. M., Stampfer, M. J., Tworoger, S. S., Bandera, E. V., Orlow, I., Olson, S. H., Bjorge, L., Salvesen, H. B., Altena, A. M., Aben, K. K. H., Kiemeney, L. A., Massuger, L. F. A. G., Pejovic, T., Bean, Y. T., Brooks-Wilson, A., Kelemen, L. E., Cook, L. S., Le, N. D., Górski, B., Gronwald, J., Menkiszak, J., Høgdall, C. K., Lundvall, L., Nedergaard, L., Engelholm, S. A., Dicks, E., Tyrer, J., Campbell, I., McNeish, I., Paul, J., Siddiqui, N., Glasspool, R., Whittemore, A. S., Rothstein, J. H., McGuire, V., Sieh, W., Cai, H., Shu, X-O., Teten, R. T., Sutphen, R., McLaughlin, J. R., Narod, S. A., Phelan, C. M., Monteiro, A. N. A., Fenstermacher, D., Lin, H-Y., Permuth, J. B., Sellers, T. A., Chen, A. Y., Tsai, Y-Y., Chen, Z., Gentry-Maharaj, A., Gayther, S. A., Ramus, S. J., Menon, U., Wu, A. H., Pearce, C. L., van den Berg, D., Pike, M. C., Dansonka-Mieszkowska, A., Plisiecka-Halasa, J., Moes-Sosnowska, J., Kupryjanczyk, J., Pharoah, P. D., Song, H., Winship, I., Chenevix-Trench, G., Giles, G., Tavtigian, S. V., Easton, D. F., Milne, R. L. & Australian Ovarian Cancer Study, 12.2016, In: J MED GENET. 53, 12, p. 800-811 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Response to Calgani et al
Zenker, M. & Kutsche, K., 12.2016, In: GENET MED. 18, 12, p. 1321Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Transfer
Secretory Activity of Neutrophils Correlates With Genotype in Familial Mediterranean Fever
Gohar, F., Orak, B., Kallinich, T., Jeske, M., Lieber, M., von Bernuth, H., Giese, A., Weissbarth-Riedel, E., Haas, J-P., Dressler, F., Holzinger, D., Lohse, P., Neudorf, U., Lainka, E., Hinze, C., Masjosthusmann, K., Kessel, C., Weinhage, T., Foell, D. & Wittkowski, H., 12.2016, In: ARTHRITIS RHEUM-US. 68, 12, p. 3010-3022Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Small cell undifferentiated (SCUD) hepatoblastomas: All malignant rhabdoid tumors?
Vokuhl, C., Oyen, F., Häberle, B., von Schweinitz, D., Schneppenheim, R. & Leuschner, I., 12.2016, In: GENE CHROMOSOME CANC. 55, 12, p. 925-931 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treatment of Children and Adolescents With Metastatic Medulloblastoma and Prognostic Relevance of Clinical and Biologic Parameters
von Bueren, A. O., Kortmann, R-D., von Hoff, K., Friedrich, C., Mynarek, M., Müller, K., Goschzik, T., Zur Mühlen, A., Gerber, N., Warmuth-Metz, M., Soerensen, N., Deinlein, F., Benesch, M., Zwiener, I., Kwiecien, R., Faldum, A., Bode, U., Fleischhack, G., Hovestadt, V., Kool, M., Jones, D., Northcott, P., Kuehl, J., Pfister, S., Pietsch, T. & Rutkowski, S., 12.2016, In: J CLIN ONCOL. 34, 34, p. 4151-4160 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
In vivo nanoparticle imaging of innate immune cells can serve as a marker of disease severity in a model of multiple sclerosis
Kirschbaum, K., Sonner, J. K., Zeller, M. W., Deumelandt, K., Bode, J., Sharma, R., Krüwel, T., Fischer, M., Hoffmann, A., Costa da Silva, M., Muckenthaler, M. U., Wick, W., Tews, B., Chen, J. W., Heiland, S., Bendszus, M., Platten, M. & Breckwoldt, M. O., 15.11.2016, In: P NATL ACAD SCI USA. 113, 46, p. 13227-13232 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk
Liu, J., Lončar, I., Collée, J. M., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Andrulis, I. L., Barile, M., Behrens, S., Benitez, J., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Burwinkel, B., Chang-Claude, J., Chen, S-T., Chenevix-Trench, G., Cheng, Y-C., Choi, J-Y., Couch, F. J., Cox, A., Cross, S. S., Cuk, K., Czene, K., Dörk, T., Dos-Santos-Silva, I., Fasching, P. A., Figueroa, J., Flyger, H., García-Closas, M., Giles, G., Glendon, G., Goldberg, M. S., González-Neira, A., Guénel, P., Haiman, C. A., Hamann, U., Hart, S. N., Hartman, M., Hatse, S., Hopper, J. L., Ito, H., Jakubowska, A., Kabisch, M., Kang, D., Kosma, V-M., Kristensen, V. N., Le Marchand, L., Lee, E., Li, J., Lophatananon, A., Jan Lubinski, Mannermaa, A., Matsuo, K., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Orr, N., Perez, J. I. A., Peto, J., Putti, T. C., Pylkäs, K., Radice, P., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schneeweiss, A., Shen, C-Y., Shrubsole, M. J., Shu, X-O., Simard, J., Southey, M. C., Swerdlow, A., Teo, S-H., Tessier, D. C., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tseng, C-C., Vachon, C., Winqvist, R., Wu, A. H., Yannoukakos, D., Zheng, W., Hall, P., Dunning, A. M., Easton, D. F., Hooning, M. J., Ouweland, A. M. W. V. D., Martens, J. W. M., Hollestelle, A. & NBCS Collaborators, 15.11.2016, In: SCI REP-UK. 6, p. 36874Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dolutegravir in breast milk and maternal and infant plasma during breastfeeding
Kobbe, R., Schalkwijk, S., Dunay, G. A., Eberhard, J. M., Schulze-Sturm, U., Hollwitz, B., Degen, O., Teulen, M., Colbers, A. & Burger, D., 13.11.2016, In: AIDS. 30, 17, p. 2731-2733 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Improved nutrition in adolescents and young adults after childhood cancer - INAYA study
Quidde, J., von Grundherr, J., Koch, B., Bokemeyer, C., Escherich, G., Valentini, L., Buchholz, D., Schilling, G. & Stein, A., 08.11.2016, In: BMC CANCER. 16, 1, p. 872Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration
Permuth, J. B., Reid, B., Earp, M., Chen, A. Y., Monteiro, A. N. A., Chen, Z., Chenevix-Trench, G., Fasching, P. A., Lambrechts, D., Vanderstichele, A., Van Niewenhuyse, E., Vergote, I., Rossing, M. A., Doherty, J. A., Chang-Claude, J., Moysich, K. B., Odunsi, K., Goodman, M. T., Shvetsov, Y. B., Wilkens, L. R., Thompson, P. J., Dörk, T., Bogdanova, N., Butzow, R., Nevanlinna, H., Pelttari, L. M., Leminen, A., Modugno, F., Edwards, R. P., Ness, R. B., Kelley, J. L., Heitz, F., Karlan, B., Lester, J., Kjaer, S. K., Jensen, A., Giles, G., T Hildebrandt, M. A., Liang, D., Lu, K. H., Wu, X., Levine, D. A., Bisogna, M., Berchuck, A., Cramer, D. W., Terry, K. L., Tworoger, S. S., Poole, E. M., Bandera, E. V., Fridley, B. L., Cunningham, J. M., Winham, S. J., Olson, S. H., Orlow, I., Bjorge, L., Kiemeney, L. A., Massuger, L. F. A. G., Pejovic, T., Moffitt, M., Le, N. D., Cook, L. S., Brooks-Wilson, A., Kelemen, L. E., Gronwald, J., Lubinski, J., Wentzensen, N., Brinton, L. A., Lissowska, J., Yang, H. P., Hogdall, E., Hogdall, C., Lundvall, L., Pharoah, P. D. P., Song, H., Campbell, I., Eccles, D., McNeish, I., Whittemore, A. S., McGuire, V., Sieh, W., Rothstein, J., Phelan, C. M., Risch, H. A., Narod, S. A., McLaughlin, J. R., Anton-Culver, H., Ziogas, A., Menon, U., Gayther, S. A., Ramus, S. J., Gentry-Maharaj, A., Pearce, C. L., Wu, A. H., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Schildkraut, J. M., Cheng, J. Q., Goode, E. L., Sellers, T. A. & AOCS study group, 08.11.2016, In: ONCOTARGET. 7, 45, p. 72381-72394 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Smac mimetic LCL161 supports neuroblastoma chemotherapy in a drug class-dependent manner and synergistically interacts with ALK inhibitor TAE684 in cells with ALK mutation F1174L
Najem, S., Langemann, D., Appl, B., Trochimiuk, M., Hundsdoerfer, P., Reinshagen, K. & Eschenburg, G., 08.11.2016, In: ONCOTARGET. 7, 45, p. 72634-72653Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Beyond the "take-home baby": Pregnancy as a modulator of organ-specific immunity in mother and offspring
Arck, P. C., 06.11.2016, In: SEMIN IMMUNOPATHOL. 38, 6, p. 631-633Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations
Bianchi, P., Schwarz, K., Högel, J., Fermo, E., Vercellati, C., Grosse, R., van Wijk, R., van Zwieten, R., Barcellini, W., Zanella, A. & Heimpel, H., 11.2016, In: BRIT J HAEMATOL. 175, 4, p. 696-704 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Antenatal endogenous and exogenous glucocorticoids and their impact on immune ontogeny and long-term immunity
Solano, M. E., Holmes, M. C., Mittelstadt, P. R., Chapman, K. E. & Tolosa, E., 11.2016, In: SEMIN IMMUNOPATHOL. 38, 6, p. 739-763 25 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer
Painter, J. N., O'Mara, T. A., Marquart, L., Webb, P. M., Attia, J., Medland, S. E., Cheng, T., Dennis, J., Holliday, E. G., McEvoy, M., Scott, R. J., Ahmed, S., Healey, C. S., Shah, M., Gorman, M., Martin, L., Hodgson, S. V., Ekici, A. B., Fasching, P. A., Hein, A., Rübner, M., Czene, K., Darabi, H., Hall, P., Li, J., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I. B., Amant, F., Annibali, D., Depreeuw, J., Lambrechts, D., Neven, P., Cunningham, J. M., Dowdy, S. C., Goode, E. L., Fridley, B. L., Winham, S. J., Njølstad, T. S., Salvesen, H. B., Trovik, J., Werner, H. M. J., Ashton, K. A., Otton, G., Proietto, A., Mints, M., Tham, E., Bolla, M. K., Michailidou, K., Wang, Q., Tyrer, J. P., Hopper, J. L., Peto, J., Swerdlow, A. J., Burwinkel, B., Brenner, H., Meindl, A., Brauch, H., Lindblom, A., Chang-Claude, J., Couch, F. J., Giles, G., Kristensen, V. N., Cox, A., Pharoah, P. D. P., Tomlinson, I., Dunning, A. M., Easton, D. F., Thompson, D. J., Spurdle, A. B. & AOCS study group, 11.2016, In: CANCER EPIDEM BIOMAR. 25, 11, p. 1503-1510 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Influenza pathogenicity during pregnancy in women and animal models
van Riel, D., Mittrücker, H-W., Engels, G., Klingel, K. & Markert, U. R., 11.2016, In: SEMIN IMMUNOPATHOL. 38, 6, p. 719-726 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation
Greil, J., Verga-Falzacappa, M. V., Echner, N. E., Behnisch, W., Bandapalli, O. R., Pechanska, P., Immenschuh, S., Vijayan, V., Balla, J., Tsukahara, H., Schneider, M., Janka-Schaub, G., Claus, M., Longerich, T., Muckenthaler, M. U. & Kulozik, A. E., 11.2016, In: HAEMATOLOGICA. 101, 11, p. e436-e439Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis
Bäumer, T., Bühring, N., Schelle, T., Münchau, A. & Muschol, N., 11.2016, In: DEV MED CHILD NEUROL. 58, 11, p. 1172-1179 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phase-rectified signal averaging method to predict perinatal outcome in infants with very preterm fetal growth restriction- a secondary analysis of TRUFFLE-trial
Lobmaier, S. M., Mensing van Charante, N., Ferrazzi, E., Giussani, D. A., Shaw, C. J., Müller, A., Ortiz, J. U., Ostermayer, E., Haller, B., Prefumo, F., Frusca, T., Hecher, K., Arabin, B., Thilaganathan, B., Papageorghiou, A. T., Bhide, A., Martinelli, P., Duvekot, J. J., van Eyck, J., Visser, G. H. A., Schmidt, G., Ganzevoort, W., Lees, C. C., Schneider, K. T. M. & TRUFFLE Group, 11.2016, In: AM J OBSTET GYNECOL. 215, 5, p. 630.e1-630.e7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome
Shukla, A., Hebbar, M., Harms, F. L., Kadavigere, R., Girisha, K. M. & Kutsche, K., 11.2016, In: AM J MED GENET A. 170, 11, p. 2998-3003Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pubertal Development in Pediatric Kidney Transplant Patients Receiving Mammalian Target of Rapamycin Inhibitors or Conventional Immunosuppression
Förster, J., Ahlenstiel-Grunow, T., Zapf, A., Mynarek, M. & Pape, L., 11.2016, In: TRANSPLANTATION. 100, 11, p. 2461-2470Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The decidua-the maternal bed embracing the embryo-maintains the pregnancy
Mori, M., Bogdan, A., Balassa, T., Csabai, T. & Szekeres-Bartho, J., 11.2016, In: SEMIN IMMUNOPATHOL. 38, 6, p. 635-649 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Characterization of pancreatic glucagon-producing tumors and pituitary gland tumors in transgenic mice overexpressing MYCN in hGFAP-positive cells
Fielitz, K., Althoff, K., De Preter, K., Nonnekens, J., Ohli, J., Elges, S., Hartmann, W., Klöppel, G., Knösel, T., Schulte, M., Klein-Hitpass, L., Beisser, D., Reis, H., Eyking, A., Cario, E., Schulte, J. H., Schramm, A. & Schüller, U., 19.10.2016, In: ONCOTARGET. 7, 46, p. 74415-74426Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells
Pinheiro, A., Silva, M. J., Pavlu-Pereira, H., Florindo, C., Barroso, M., Marques, B., Correia, H., Oliveira, A., Gaspar, A., Tavares de Almeida, I. & Rivera, I., 15.10.2016, In: GENE. 591, 2, p. 417-24 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Undiagnosed Diseases Network, Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., 06.10.2016, In: AM J HUM GENET. 99, 4, p. 991-999 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Ghoussaini, M., French, J. D., Michailidou, K., Nord, S., Beesley, J., Canisus, S., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Moradi Marjaneh, M., Lee, J. S., Dennis, J., Bolla, M. K., Wang, Q., Dicks, E., Milne, R. L., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Muir, K., Lophatananon, A., Fasching, P. A., Fletcher, O., Johnson, N., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Benitez, J., González-Neira, A., Alonso, M. R., Pita, G., Neuhausen, S. L., Anton-Culver, H., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Tessier, D. C., Vincent, D., Nevanlinna, H., Khan, S., Matsuo, K., Ito, H., Dörk, T., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V-M., Wu, A. H., van den Berg, D., Lambrechts, D., Floris, G., Chang-Claude, J., Rudolph, A., Radice, P., Barile, M., Couch, F. J., Hallberg, E., Giles, G., Haiman, C. A., Le Marchand, L., Goldberg, M. S., Teo, S-H., Yip, C. H., Borresen-Dale, A-L., Zheng, W., Cai, Q., Winqvist, R., Pylkäs, K., Andrulis, I. L., Devilee, P., Tollenaar, R. A. E. M., García-Closas, M., Figueroa, J., Hall, P., Czene, K., Brand, J. S., Darabi, H., Eriksson, M., Hooning, M. J., Koppert, L. B., Li, J., Shu, X-O., Zheng, Y., Cox, A., Cross, S. S., Shah, M., Rhenius, V., Choi, J-Y., Kang, D., Hartman, M., Chia, K. S., Kabisch, M., Torres, D., Luccarini, C., Conroy, D. M., Jakubowska, A., Lubinski, J., Sangrajrang, S., Brennan, P., Olswold, C., Slager, S., Shen, C-Y., Hou, M-F., Swerdlow, A., Schoemaker, M. J., Simard, J., Pharoah, P. D. P., Kristensen, V., Chenevix-Trench, G., Easton, D. F., Dunning, A. M., Edwards, S. L. & kConFab/AOCS Investigators, 06.10.2016, In: AM J HUM GENET. 99, 4, p. 903-911 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Training Significantly Improves Fetoscopy Performance: A Pilot Randomized Controlled Trial
Mietzsch, S., Boettcher, J., Yang, S., Chantereau, P., Romero, P., Bergholz, R., Reinshagen, K. & Boettcher, M., 01.10.2016, In: EUR J PEDIATR SURG. 26, 5, p. 436-442Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Diez-Fernandez, C., Rüfenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M. & Häberle, J., 10.2016, In: GENET MED. 18, 10, p. 991-1000Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
Fan, C., Wolking, S., Lehmann-Horn, F., Hedrich, U. B., Freilinger, T., Lerche, H., Borck, G., Kubisch, C. & Jurkat-Rott, K., 10.2016, In: CEPHALALGIA. 36, 13, p. 1238-1247Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evidence of H3 K27M mutations in posterior fossa ependymomas
Gessi, M., Capper, D., Sahm, F., Huang, K., von Deimling, A., Tippelt, S., Fleischhack, G., Scherbaum, D., Alfer, J., Juhnke, B-O., von Hoff, K., Rutkowski, S., Warmuth-Metz, M., Chavez, L., Pfister, S. M., Pietsch, T., Jones, D. T. W. & Sturm, D., 10.2016, In: ACTA NEUROPATHOL. 132, 4, p. 635-7 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
The Heidelberg Appendicitis Score Simplifies Identification of Pediatric Appendicitis
Boettcher, M., Breil, T. & Günther, P., 10.2016, In: INDIAN J PEDIATR. 83, 10, p. 1093-7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression
Löbel, U., Sedlacik, J., Nickel, M., Lezius, S., Fiehler, J., Nestrasil, I., Kohlschütter, A. & Schulz, A., 10.2016, In: AM J NEURORADIOL. 37, 10, p. 1938 – 1943Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, J. A., Sinnema, M., Stumpel, C. T. R. M., Draaisma, J. M., Nicolai, J., Yntema, H. G., Lindstrom, K., de Vries, B. B. A., Jewett, T., Santoro, S. L., Vogt, J., Bachman, K. K., Seeley, A. H., Krokosky, A., Turner, C., Rohena, L., Hempel, M., Kortüm, F., Lessel, D., Neu, A., Strom, T. M., Wieczorek, D., Bramswig, N., Laccone, F. A., Behunova, J., Rehder, H., Gordon, C. T., Rio, M., Romana, S., Tang, S., El-Khechen, D., Cho, M. T., McWalter, K., Douglas, G., Baskin, B., Begtrup, A., Funari, T., Schoch, K., Stegmann, A. P. A., Stevens, S. J. C., Zhang, D-E., Traver, D., Yao, X., MacArthur, D. G., Brunner, H. G., Mancini, G. M. S., Myers, R. M., Owen, L. B., Lim, S-T., Stachura, D. L., Vissers, L. E. L. M., Ahn, E-Y. E., University of Washington Center for Mendelian Genomics & Deciphering Developmental Disorders Study, 01.09.2016, In: AM J HUM GENET. 99, 3, p. 711-9 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
Ninković, D., Sarnavka, V., Bašnec, A., Ćuk, M., Ramadža, D. P., Fumić, K., Kušec, V., Santer, R. & Barić, I., 01.09.2016, In: J PEDIATR ENDOCR MET. 29, 9, p. 1083-8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Groeschel, S., Kühl, J-S., Bley, A. E., Kehrer, C., Weschke, B., Döring, M., Böhringer, J., Schrum, J., Santer, R., Kohlschütter, A., Krägeloh-Mann, I. & Müller, I., 01.09.2016, In: JAMA NEUROL. 73, 9, p. 1133-40Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7
Jankowiak, W., Brandenstein, L., Dulz, S., Hagel, C., Storch, S. & Bartsch, U., 01.09.2016, In: INVEST OPHTH VIS SCI. 57, 11, p. 4989-4998 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Childhood medulloblastoma
Massimino, M., Biassoni, V., Gandola, L., Garrè, M. L., Gatta, G., Giangaspero, F., Poggi, G. & Rutkowski, S., 09.2016, In: CRIT REV ONCOL HEMAT. 105, p. 35-51 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Complementarity determining region-independent recognition of a superantigen by B-cell antigen receptors of mantle cell lymphoma
Fichtner, M., Spies, E., Seismann, H., Riecken, K., Engels, N., Gösch, B., Dierlamm, J., Gerull, H., Nollau, P., Klapper, W., Dreyling, M., Binder, M. & Trepel, M., 09.2016, In: HAEMATOLOGICA. 101, 9, p. e378-81Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Fietz, M., AlSayed, M., Burke, D., Cohen-Pfeffer, J., Cooper, J. D., Dvořáková, L., Giugliani, R., Izzo, E., Jahnová, H., Lukacs, Z., Mole, S. E., Noher de Halac, I., Pearce, D. A., Poupetova, H., Schulz, A., Specchio, N., Xin, W. & Miller, N., 09.2016, In: MOL GENET METAB. 119, 1-2, p. 160-7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
EP19.10: The role of Doppler ultrasound in delivery planning of small breech babies at term
Hollwitz, B. G., Ortmeyer, G., de Sousa, M. T. & Hecher, K., 09.2016, In: ULTRASOUND OBST GYN. 48 Suppl 1, p. 351Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
Genetic cause and prevalence of hydroxyprolinemia
Staufner, C., Haack, T. B., Feyh, P., Gramer, G., Raga, D. E., Terrile, C., Sauer, S., Okun, J. G., Fang-Hoffmann, J., Mayatepek, E., Prokisch, H., Hoffmann, G. F. & Kölker, S., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 625-632 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
Kar, S. P., Beesley, J., Amin Al Olama, A., Michailidou, K., Tyrer, J., Kote-Jarai, ZS., Lawrenson, K., Lindstrom, S., Ramus, S. J., Thompson, D. J., Kibel, A. S., Dansonka-Mieszkowska, A., Michael, A., Dieffenbach, A. K., Gentry-Maharaj, A., Whittemore, A. S., Wolk, A., Monteiro, A., Peixoto, A., Kierzek, A., Cox, A., Rudolph, A., Gonzalez-Neira, A., Wu, A. H., Lindblom, A., Swerdlow, A., Ziogas, A., Ekici, A. B., Burwinkel, B., Karlan, B. Y., Nordestgaard, B. G., Blomqvist, C., Phelan, C., McLean, C., Pearce, C. L., Vachon, C., Cybulski, C., Slavov, C., Stegmaier, C., Maier, C., Ambrosone, C. B., Høgdall, C. K., Teerlink, C. C., Kang, D., Tessier, D. C., Schaid, D. J., Stram, D. O., Cramer, D. W., Neal, D. E., Eccles, D., Flesch-Janys, D., Edwards, D. R. V., Wokozorczyk, D., Levine, D. A., Yannoukakos, D., Sawyer, E. J., Bandera, E. V., Poole, E. M., Goode, E. L., Khusnutdinova, E., Høgdall, E., Song, F., Bruinsma, F., Heitz, F., Modugno, F., Hamdy, F. C., Wiklund, F., Giles, G. G., Olsson, H., Wildiers, H., Ulmer, H-U., Pandha, H., Risch, H. A., Darabi, H., Salvesen, H. B., Nevanlinna, H., Gronberg, H., Brenner, H., Brauch, H., Anton-Culver, H., Song, H., Lim, H-Y., McNeish, I., Campbell, I., Vergote, I., Gronwald, J., Lubiński, J., Stanford, J. L., Benítez, J., Doherty, J. A., Permuth, J. B., Chang-Claude, J., Donovan, J. L., Dennis, J., Schildkraut, J. M., Schleutker, J., Hopper, J. L., Kupryjanczyk, J., Park, J. Y., Figueroa, J., Clements, J. A., Knight, J. A., Peto, J., Cunningham, J. M., Pow-Sang, J., Batra, J., Czene, K., Lu, K. H., Herkommer, K., Khaw, K-T., Matsuo, K., Muir, K., Offitt, K., Chen, K., Moysich, K. B., Aittomäki, K., Odunsi, K., Kiemeney, L. A., Massuger, L. F. A. G., Fitzgerald, L. M., Cook, L. S., Cannon-Albright, L., Hooning, M. J., Pike, M. C., Bolla, M. K., Luedeke, M., Teixeira, M. R., Goodman, M. T., Schmidt, M. K., Riggan, M., Aly, M., Rossing, M. A., Beckmann, M. W., Moisse, M., Sanderson, M., Southey, M. C., Jones, M., Lush, M., Hildebrandt, M. A. T., Hou, M-F., Schoemaker, M. J., Garcia-Closas, M., Bogdanova, N., Rahman, N., Le, N. D., Orr, N., Wentzensen, N., Pashayan, N., Peterlongo, P., Guénel, P., Brennan, P., Paulo, P., Webb, P. M., Broberg, P., Fasching, P. A., Devilee, P., Wang, Q., Cai, Q., Li, Q., Kaneva, R., Butzow, R., Kopperud, R. K., Schmutzler, R. K., Stephenson, R. A., MacInnis, R. J., Hoover, R. N., Winqvist, R., Ness, R., Milne, R. L., Travis, R. C., Benlloch, S., Olson, S. H., McDonnell, S. K., Tworoger, S. S., Maia, S., Berndt, S., Lee, S. C., Teo, S-H., Thibodeau, S. N., Bojesen, S. E., Gapstur, S. M., Kjær, S. K., Pejovic, T., Tammela, T. L. J., Dörk, T., Brüning, T., Wahlfors, T., Key, T. J., Edwards, T. L., Menon, U., Hamann, U., Mitev, V., Kosma, V-M., Setiawan, V. W., Kristensen, V., Arndt, V., Vogel, W., Zheng, W., Sieh, W., Blot, W. J., Kluzniak, W., Shu, X-O., Gao, Y-T., Schumacher, F., Freedman, M. L., Berchuck, A., Dunning, A. M., Simard, J., Haiman, C. A., Spurdle, A., Sellers, T. A., Hunter, D. J., Henderson, B. E., Kraft, P., Chanock, S. J., Couch, F. J., Hall, P., Gayther, S. A., Easton, D. F., Chenevix-Trench, G., Eeles, R., Pharoah, P. D. P., Lambrechts, D. & ABCTB Investigators, 09.2016, In: CANCER DISCOV. 6, 9, p. 1052-67 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Sentner, C. P., Hoogeveen, I. J., Weinstein, D. A., Santer, R., Murphy, E., McKiernan, P. J., Steuerwald, U., Beauchamp, N. J., Taybert, J., Laforêt, P., Petit, F. M., Hubert, A., Labrune, P., Smit, G. P. A. & Derks, T. G. J., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 697-704 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
Obser, T., Ledford-Kraemer, M., Oyen, F., Brehm, M. A., Denis, C. V., Marschalek, R., Montgomery, R. R., Sadler, J. E., Schneppenheim, S., Budde, U. & Schneppenheim, R., 09.2016, In: J THROMB HAEMOST. 14, 9, p. 1725-35 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review