Publications

„Surgeon-modified“ Stentgrafts für den Notfall – Ergänzung zu „off-the-shelf“ Prothesen für die Versorgung von komplexen abdominellen und thorakoabdominellen Aortenpathologien

Heidemann, F., Kölbel, T., Debus, S., Behrendt, C-A., Diener, H., Rohlffs, F. & Tsilimparis, N., 26.11.2017, In: ZBL CHIR. 142, 5, p. 496-501

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

The wearable cardioverter defibrillator as a bridge to reimplantation in patients with ICD or CRT-D-related infections

Castro, L., Pecha, S., Linder, M., Vogler, J., Gosau, N., Meyer, C., Willems, S., Reichenspurner, H. & Hakmi, S., 25.11.2017, In: J CARDIOTHORAC SURG. 12, 1, p. 99

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

Acupuncture analgesia involves modulation of pain-induced gamma oscillations and cortical network connectivity

Hauck, M., Schröder, S., Meyer-Hamme, G., Lorenz, J., Friedrichs, S., Nolte, G., Gerloff, C. & Engel, A. K., 24.11.2017, In: SCI REP-UK. 7, 1, p. 16307

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

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Chintalapudi, S. R., Maria, D., Di Wang, X., Bailey, J. N. C., Hysi, P. G., Wiggs, J. L., Williams, R. W., Jablonski, M. M. & NEIGHBORHOOD Consortium, 24.11.2017, In: NAT COMMUN. 8, 1, 1755.

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

Association of High-Sensitivity Cardiac Troponin I Concentration With Cardiac Outcomes in Patients With Suspected Acute Coronary Syndrome

Chapman, A. R., Lee, K. K., McAllister, D. A., Cullen, L., Greenslade, J. H., Parsonage, W., Worster, A., Kavsak, P. A., Blankenberg, S., Neumann, J., Sörensen, N. A., Westermann, D., Buijs, M. M., Verdel, G. J. E., Pickering, J. W., Than, M. P., Twerenbold, R., Badertscher, P., Sabti, Z., Mueller, C., Anand, A., Adamson, P., Strachan, F. E., Ferry, A., Sandeman, D., Gray, A., Body, R., Keevil, B., Carlton, E., Greaves, K., Korley, F. K., Metkus, T. S., Sandoval, Y., Apple, F. S., Newby, D. E., Shah, A. S. V. & Mills, N. L., 21.11.2017, In: JAMA-J AM MED ASSOC. 318, 19, p. 1913-1924 12 p.

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

The WD40-domain containing protein CORO2B is specifically enriched in glomerular podocytes and regulates the ventral actin cytoskeleton

Rogg, M., Yasuda-Yamahara, M., Abed, A., Dinse, P., Helmstädter, M., Conzelmann, A. C., Frimmel, J., Sellung, D., Biniossek, M. L., Kretz, O., Grahammer, F., Schilling, O., Huber, T. B. & Schell, C., 21.11.2017, In: SCI REP-UK. 7, 1, p. 15910

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

Testicular Tumour Size and Rete Testis Invasion as Prognostic Factors for the Risk of Relapse of Clinical Stage I Seminoma Testis Patients Under Surveillance: a Systematic Review by the Testicular Cancer Guidelines Panel

Boormans, J. L., Mayor de Castro, J., Marconi, L., Yuan, Y., Laguna Pes, M. P., Bokemeyer, C., Nicolai, N., Algaba, F., Oldenburg, J. & Albers, P., 20.11.2017, In: EUR UROL.

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

Plasma Nitrate and Incidence of Cardiovascular Disease and All-Cause Mortality in the Community: The Framingham Offspring Study

Maas, R., Xanthakis, V., Göen, T., Müller, J., Schwedhelm, E., Böger, R. H. & Vasan, R. S., 18.11.2017, In: J AM HEART ASSOC. 6, 11

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

Increased PDGFR-beta and VEGFR-2 protein levels are associated with resistance to platinum-based chemotherapy and adverse outcome of ovarian cancer patients

Avril, S., Dincer, Y., Malinowsky, K., Wolff, C., Gündisch, S., Hapfelmeier, A., Boxberg, M., Bronger, H., Becker, K-F. & Schmalfeldt, B., 17.11.2017, In: ONCOTARGET. 8, 58, p. 97851-97861 11 p.

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

Process quality of decision-making in multidisciplinary cancer team Meetings: a structured observational study

Hahlweg, P., Didi, S., Kriston, L., Härter, M., Nestoriuc, Y. & Scholl, I., 17.11.2017, In: BMC CANCER. 17, 1, p. 772

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

Comprehensive Analysis of Hypermutation in Human Cancer

Campbell, B. B., Light, N., Fabrizio, D., Zatzman, M., Fuligni, F., de Borja, R., Davidson, S., Edwards, M., Elvin, J. A., Hodel, K. P., Zahurancik, W. J., Suo, Z., Lipman, T., Wimmer, K., Kratz, C. P., Bowers, D. C., Laetsch, T. W., Dunn, G. P., Johanns, T. M., Grimmer, M. R., Smirnov, I. V., Larouche, V., Samuel, D., Bronsema, A., Osborn, M., Stearns, D., Raman, P., Cole, K. A., Storm, P. B., Yalon, M., Opocher, E., Mason, G., Thomas, G. A., Sabel, M., George, B., Ziegler, D. S., Lindhorst, S., Issai, V. M., Constantini, S., Toledano, H., Elhasid, R., Farah, R., Dvir, R., Dirks, P., Huang, A., Galati, M. A., Chung, J., Ramaswamy, V., Irwin, M. S., Aronson, M., Durno, C., Taylor, M. D., Rechavi, G., Maris, J. M., Bouffet, E., Hawkins, C., Costello, J. F., Meyn, M. S., Pursell, Z. F., Malkin, D., Tabori, U. & Shlien, A., 16.11.2017, In: CELL. 171, 5, p. 1042-1056.e10

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

Impact of the surgical strategy on the incidence of C5 nerve root palsy in decompressive cervical surgery

Krätzig, T., Mohme, M., Mende, K. C., Eicker, S. O. & Floeth, F. W., 16.11.2017, In: PLOS ONE. 12, 11, p. e0188338

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

Study approach and field work procedures of the MentDis_ICF65+ project on the prevalence of mental disorders in the older adult European population

Volkert, J., Härter, M., Dehoust, M. C., Schulz, H., Sehner, S., Suling, A., Wegscheider, K., Ausín, B., Canuto, A., Crawford, M. J., Da Ronch, C., Grassi, L., Hershkovitz, Y., Muñoz, M., Quirk, A., Rotenstein, O., Santos-Olmo, A. B., Shalev, A. Y., Strehle, J., Weber, K., Wittchen, H-U. & Andreas, S., 16.11.2017, In: BMC PSYCHIATRY. 17, 1, p. 366

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

Correspondence model-based 4D VMAT dose simulation for analysis of local metastasis recurrence after extracranial SBRT

Sothmann, T., Gauer, T., Wilms, M. & Werner, R., 13.11.2017, In: PHYS MED BIOL. 62, 23, p. 9001-9017

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

Is perfect good? - Dimensions of perfectionism in newly admitted medical students

Seeliger, H. & Harendza, S., 13.11.2017, In: BMC MED EDUC. 17, 1, p. 206

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

Therapeutic targeting of extracellular DNA improves the outcome of intestinal ischemic reperfusion injury in neonatal rats

Boettcher, M., Eschenburg, G., Mietzsch, S., Jiménez-Alcázar, M., Klinke, M., Vincent, D., Tiemann, B., Bergholz, R., Reinshagen, K. & Fuchs, T. A., 13.11.2017, In: SCI REP-UK. 7, 1, p. 15377

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

Accuracy of multiparametric MR Imaging with PI-RADS V2 Assessment in Detecting Infiltrations of the Neurovascular Bundles prior to Prostatectomy

Sauer, M., Weinrich, J. M., Salomon, G., Tennstedt, P., Adam, G. & Beyersdorff, D., 12.11.2017, In: J UROLOGY. 197, p. 24

Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

A qualitative comparison of ten tissue clearing techniques

Orlich, M., 10.11.2017, In: HISTOL HISTOPATHOL. 2018, 33, p. 181-199

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

Proteolytic cleavage of transmembrane cell adhesion molecule L1 by extracellular matrix molecule Reelin is important for mouse brain development

Lutz, D., Sharaf, A., Drexler, D., Kataria, H., Wolters-Eisfeld, G., Brunne, B., Kleene, R., Loers, G., Frotscher, M. & Schachner, M., 10.11.2017, In: SCI REP-UK. 7, 1, p. 15268

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

YKL-40 in the brain and cerebrospinal fluid of neurodegenerative dementias

Llorens, F., Thüne, K., Tahir, W., Kanata, E., Diaz-Lucena, D., Xanthopoulos, K., Kovatsi, E., Pleschka, C., Garcia-Esparcia, P., Schmitz, M., Ozbay, D., Correia, S., Correia, Â., Milosevic, I., Andréoletti, O., Fernández-Borges, N., Vorberg, I. M., Glatzel, M., Sklaviadis, T., Torres, J. M., Krasemann, S., Sánchez-Valle, R., Ferrer, I. & Zerr, I., 10.11.2017, In: MOL NEURODEGENER. 12, 1, p. 83

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

Atropine augments cardiac contractility by inhibiting cAMP-specific phosphodiesterase type 4

Perera, R. K., Fischer, T. H., Wagner, M., Dewenter, M., Vettel, C., Bork, N. I., Maier, L. S., Conti, M., Wess, J., El-Armouche, A., Hasenfuß, G. & Nikolaev, V. O., 09.11.2017, In: SCI REP-UK. 7, 1, p. 15222

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

Differences between medical student and faculty perceptions of the competencies needed for the first year of residency

Fürstenberg, S. & Harendza, S., 09.11.2017, In: BMC MED EDUC. 17, 1, p. 198

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

Recombinant ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura

Scully, M., Knöbl, P., Kentouche, K., Rice, L., Windyga, J., Schneppenheim, R., Kremer Hovinga, J. A., Kajiwara, M., Fujimura, Y., Maggiore, C., Doralt, J., Hibbard, C., Martell, L. & Ewenstein, B., 09.11.2017, In: BLOOD. 130, 19, p. 2055-2063 9 p.

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

Quantitative text feature analysis of autobiographical interview data: prediction of episodic details, semantic details and temporal discounting

Peters, J., Wiehler, A. & Bromberg, U., 08.11.2017, In: SCI REP-UK. 7, 1, p. 14989

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

Appropriateness of anteroseptal myocardial infarction nomenclature evaluated by late gadolinium enhancement cardiovascular magnetic resonance imaging

Allencherril, J., Fakhri, Y., Engblom, H., Heiberg, E., Carlsson, M., Dubois-Rande, J-L., Halvorsen, S., Hall, T. S., Larsen, A-I., Jensen, S. E., Arheden, H., Atar, D., Clemmensen, P., Shah, D. J., Cheong, B., Sejersten, M. & Birnbaum, Y., 07.11.2017, In: J ELECTROCARDIOL. 51, 2, p. 218-223 6 p.

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

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study

Brouckaert, O., Rudolph, A., Laenen, A., Keeman, R., Bolla, M. K., Wang, Q., Soubry, A., Wildiers, H., Andrulis, I. L., Arndt, V., Beckmann, M. W., Benitez, J., Blomqvist, C., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H., Chenevix-Trench, G., Choi, J-Y., Cornelissen, S., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Eriksson, M., Fasching, P. A., Figueroa, J., Flyger, H., Giles, G. G., González-Neira, A., Guénel, P., Hall, P., Hollestelle, A., Hopper, J. L., Ito, H., Jones, M., Kang, D., Knight, J. A., Kosma, V-M., Li, J., Lindblom, A., Lilyquist, J., Lophatananon, A., Mannermaa, A., Manoukian, S., Margolin, S., Matsuo, K., Muir, K., Nevanlinna, H., Peterlongo, P., Pylkäs, K., Saajrang, S., Seynaeve, C., Shen, C-Y., Shu, X-O., Southey, M. C., Swerdlow, A., Teo, S-H., Tollenaar, R. A. E. M., Truong, T., Tseng, C-C., van den Broek, A. J., van Deurzen, C. H. M., Winqvist, R., Wu, A. H., Yip, C. H., Yu, J-C., Zheng, W., Milne, R. L., Pharoah, P. D. P., Easton, D. F., Schmidt, M. K., Garcia-Closas, M., Chang-Claude, J., Lambrechts, D., Neven, P. & kConFab, 07.11.2017, In: BREAST CANCER RES. 19, p. 119

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

The challenge of mapping the human connectome based on diffusion tractography

Maier-Hein, K. H., Neher, P. F., Houde, J-C., Côté, M-A., Garyfallidis, E., Zhong, J., Chamberland, M., Yeh, F-C., Lin, Y-C., Ji, Q., Reddick, W. E., Glass, J. O., Chen, D. Q., Feng, Y., Gao, C., Wu, Y., Ma, J., Renjie, H., Li, Q., Westin, C-F., Deslauriers-Gauthier, S., González, J. O. O., Paquette, M., St-Jean, S., Girard, G., Rheault, F., Sidhu, J., Tax, C. M. W., Guo, F., Mesri, H. Y., Dávid, S., Froeling, M., Heemskerk, A. M., Leemans, A., Boré, A., Pinsard, B., Bedetti, C., Desrosiers, M., Brambati, S., Doyon, J., Sarica, A., Vasta, R., Cerasa, A., Quattrone, A., Yeatman, J., Khan, A. R., Hodges, W., Alexander, S., Romascano, D., Barakovic, M., Auría, A., Esteban, O., Lemkaddem, A., Thiran, J-P., Cetingul, H. E., Odry, B. L., Mailhe, B., Nadar, M. S., Pizzagalli, F., Prasad, G., Villalon-Reina, J. E., Galvis, J., Thompson, P. M., Requejo, F. D. S., Laguna, P. L., Lacerda, L. M., Barrett, R., Dell'Acqua, F., Catani, M., Petit, L., Caruyer, E., Daducci, A., Dyrby, T. B., Holland-Letz, T., Hilgetag, C. C., Stieltjes, B. & Descoteaux, M., 07.11.2017, In: NAT COMMUN. 8, 1, p. 1349

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

Association of Serum Soluble Urokinase Receptor Levels With Progression of Kidney Disease in Children

Schaefer, F., Trachtman, H., Wühl, E., Kirchner, M., Hayek, S. S., Anarat, A., Duzova, A., Mir, S., Paripovic, D., Yilmaz, A., Lugani, F., Arbeiter, K., Litwin, M., Oh, J., Matteucci, M. C., Gellermann, J., Wygoda, S., Jankauskiene, A., Klaus, G., Dusek, J., Testa, S., Zurowska, A., Caldas Afonso, A., Tracy, M., Wei, C., Sever, S., Smoyer, W., Reiser, J. & ESCAPE Trial Consortium and the 4C Study Group, 06.11.2017, In: JAMA PEDIATR. 171, 11, p. e172914

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

A three-talk model for shared decision making: multistage consultation process

Elwyn, G., Durand, M. A., Song, J., Aarts, J., Barr, P. J., Berger, Z., Cochran, N., Frosch, D., Galasiński, D., Gulbrandsen, P., Han, P. K. J., Härter, M., Kinnersley, P., Lloyd, A., Mishra, M., Perestelo-Perez, L., Scholl, I., Tomori, K., Trevena, L., Witteman, H. O. & Van der Weijden, T., 06.11.2017, In: BMJ-BRIT MED J. 359, p. j4891

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

Radiotherapy and chemotherapy change vessel tree geometry and metastatic spread in a small cell lung cancer xenograft mouse tumor model

Frenzel, T., Hoffmann, B., Schmitz, R., Bethge, A., Schumacher, U. & Wedemann, G., 06.11.2017, In: PLOS ONE. 12, 11, p. e0187144

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

Trajectories of maternal ante- and postpartum depressive symptoms and their association with child- and mother-related characteristics in a West African birth cohort study

Barthel, D., Kriston, L., Fordjour, D., Mohammed, Y., Kra-Yao, E. D., Bony Kotchi, C. E., Koffi Armel, E. J., Eberhardt, K. A., Feldt, T., Hinz, R., Mathurin, K., Schoppen, S., Bindt, C., Ehrhardt, S. & International CDS Study Group, 06.11.2017, In: PLOS ONE. 12, 11, p. e0187267

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

First-in-child use of the oral soluble guanylate cyclase stimulator riociguat in pulmonary arterial hypertension

Spreemann, T., Bertram, H., Happel, C. M., Kozlik-Feldmann, R. & Hansmann, G., 04.11.2017, In: PULM CIRC. 8, 1, 2045893217743123.

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

Genome-wide DNA methylation analysis reveals a prognostic classifier for non-metastatic colorectal cancer (ProMCol classifier)

Gündert, M., Edelmann, D., Benner, A., Jansen, L., Jia, M., Walter, V., Knebel, P., Herpel, E., Chang-Claude, J., Hoffmeister, M., Brenner, H. & Burwinkel, B., 03.11.2017, In: GUT.

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

Multiple Pulmonary Emboli of Bone Cement after Kyphoplasty

Butscheidt, S., Ritter, J. & Püschel, K., 03.11.2017, In: DTSCH ARZTEBL INT. 114, 44, p. 756

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

Anion-conducting channelrhodopsins with tuned spectra and modified kinetics engineered for optogenetic manipulation of behavior

Wietek, J., Rodriguez-Rozada, S., Tutas, J., Tenedini, F., Grimm, C., Oertner, T. G., Soba, P., Hegemann, P. & Wiegert, J. S., 02.11.2017, In: SCI REP-UK. 7, 1, p. 14957

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

Association analysis identifies 65 new breast cancer risk loci

Michailidou, K., Lindström, S., Dennis, J., Beesley, J., Hui, S., Kar, S., Lemaçon, A., Soucy, P., Glubb, D., Rostamianfar, A., Bolla, M. K., Wang, Q., Tyrer, J., Dicks, E., Lee, A., Wang, Z., Allen, J., Keeman, R., Eilber, U., French, J. D., Qing Chen, X., Fachal, L., McCue, K., McCart Reed, A. E., Ghoussaini, M., Carroll, J. S., Jiang, X., Finucane, H., Adams, M., Adank, M. A., Ahsan, H., Aittomäki, K., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Arun, B., Auer, P. L., Bacot, F., Barrdahl, M., Baynes, C., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Bernstein, L., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Børresen-Dale, A-L., Brand, J. S., Brauch, H., Brennan, P., Brenner, H., Brinton, L., Broberg, P., Brock, I. W., Broeks, A., Brooks-Wilson, A., Brucker, S. Y., Brüning, T., Burwinkel, B., Butterbach, K., Cai, Q., Cai, H., Caldés, T., Canzian, F., Carracedo, A., Carter, B. D., Castelao, J. E., Chan, T. L., David Cheng, T-Y., Seng Chia, K., Choi, J-Y., Christiansen, H., Clarke, C. L., Collée, M., Conroy, D. M., Cordina-Duverger, E., Cornelissen, S., Cox, D. G., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Devilee, P., Doheny, K. F., Dörk, T., Dos-Santos-Silva, I., Dumont, M., Durcan, L., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Elvira, M., Engel, C., Eriksson, M., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fritschi, L., Gaborieau, V., Gabrielson, M., Gago-Dominguez, M., Gao, Y-T., Gapstur, S. M., García-Sáenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G. G., Glendon, G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Grenaker Alnæs, G. I., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hamann, U., Hamel, N., Hankinson, S., Harrington, P., Hart, S. N., Hartikainen, J. M., Hartman, M., Hein, A., Heyworth, J., Hicks, B., Hillemanns, P., Ho, D. N., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Hou, M-F., Hsiung, C-N., Huang, G., Humphreys, K., Ishiguro, J., Ito, H., Iwasaki, M., Iwata, H., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kasuga, Y., Kerin, M. J., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S-W., Knight, J. A., Kosma, V-M., Kristensen, V. N., Krüger, U., Kwong, A., Lambrechts, D., Le Marchand, L., Lee, E., Lee, M. H., Lee, J. W., Neng Lee, C., Lejbkowicz, F., Li, J., Lilyquist, J., Lindblom, A., Lissowska, J., Lo, W-Y., Loibl, S., Long, J., Lophatananon, A., Lubinski, J., Luccarini, C., Lux, M. P., Ma, E. S. K., MacInnis, R. J., Maishman, T., Makalic, E., Malone, K. E., Kostovska, I. M., Mannermaa, A., Manoukian, S., Manson, J. E., Margolin, S., Mariapun, S., Martinez, M. E., Matsuo, K., Mavroudis, D., McKay, J., McLean, C., Meijers-Heijboer, H., Meindl, A., Menéndez, P., Menon, U., Meyer, J., Miao, H., Miller, N., Taib, N. A. M., Muir, K., Mulligan, A. M., Mulot, C., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, S. F., Noh, D-Y., Nordestgaard, B. G., Norman, A., Olopade, O. I., Olson, J. E., Olsson, H., Olswold, C., Orr, N., Pankratz, V. S., Park, S. K., Park-Simon, T-W., Lloyd, R., Perez, J. I. A., Peterlongo, P., Peto, J., Phillips, K-A., Pinchev, M., Plaseska-Karanfilska, D., Prentice, R., Presneau, N., Prokofyeva, D., Pugh, E., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rennert, G., Rennert, H. S., Rhenius, V., Romero, A., Romm, J., Ruddy, K. J., Rüdiger, T., Rudolph, A., Ruebner, M., Rutgers, E. J. T., Saloustros, E., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., Schumacher, F., Schürmann, P., Scott, R. 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Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Lessel, D., Schob, C., Küry, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., DDD Study, Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R. & Kreienkamp, H-J., 02.11.2017, In: AM J HUM GENET. 101, 5, p. 716-724 9 p.

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