Research ExplorerJournalsJ MED GENET Publications

J MED GENET - Journal of medical genetics

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Publications

  1. 2024

  2. Complex structural variation and nonsense variant in trans cause VPS50-related disorder

    Hecher, L., Gorski-Alberts, E., Begemann, M., Herwig, J., Lausberg, E., Hillebrand, G., Volk, A. E., Kurth, I., Kraft, F. & Kutsche, K., 29.08.2024, In: J MED GENET. 61, 9, p. 833-838 6 p.

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

  3. 2023

  4. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

    Levi, H., Carmi, S., Rosset, S., Yerushalmi, R., Zick, A., Yablonski-Peretz, T., Wang, Q., Bolla, M. K., Dennis, J., Michailidou, K., Lush, M., Ahearn, T., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Arndt, V., Augustinsson, A., Auvinen, P., Beane Freeman, L., Beckmann, M., Behrens, S., Bermisheva, M., Bodelon, C., Bogdanova, N. V., Bojesen, S. E., Brenner, H., Byers, H., Camp, N., Castelao, J., Chang-Claude, J., Chirlaque, M-D., Chung, W., Clarke, C., Collee, M. J., Colonna, S., Couch, F., Cox, A., Cross, S. S., Czene, K., Daly, M., Devilee, P., Dork, T., Dossus, L., Eccles, D. M., Eliassen, A. H., Eriksson, M., Evans, G., Fasching, P., Fletcher, O., Flyger, H., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., Garcia-Saenz, J. A., Genkinger, J., Giles, G. G., Goldberg, M., Guénel, P., Hall, P., Hamann, U., He, W., Hillemanns, P., Hollestelle, A., Hoppe, R., Hopper, J., Jakovchevska, S., Jakubowska, A., Jernström, H., John, E., Johnson, N., Jones, M., Vijai, J., Kaaks, R., Khusnutdinova, E., Kitahara, C., Koutros, S., Kristensen, V., Kurian, A. W., Lacey, J., Lambrechts, D., Le Marchand, L., Lejbkowicz, F., Lindblom, A., Loibl, S., Lori, A., Lubinski, J., Mannermaa, A., Manoochehri, M., Mavroudis, D., Menon, U., Mulligan, A., Murphy, R., Nevelsteen, I., Newman, W. G., Obi, N., O'Brien, K., Offit, K., Olshan, A., Plaseska-Karanfilska, D., Olson, J., Park-Simon, T-W., Patel, A., Peterlongo, P., Rack, B., Radice, P., Rennert, G., Rhenius, V., Romero, A., Saloustros, E., Sandler, D., Schmidt, M. K., Schwentner, L., Shah, M., Sharma, P., Simard, J., Southey, M., Stone, J., Tapper, W. J., Taylor, J., Teras, L., Toland, A. E., Troester, M., Truong, T., van der Kolk, L. E., Weinberg, C., Wendt, C., Yang, X. R., Zheng, W., Ziogas, A., Dunning, A. M., Pharoah, P., Easton, D. F., Ben-Sachar, S., Elefant, N., Shamir, R., Elkon, R. & Breast Cancer Association Consortium (BCAC), 27.11.2023, In: J MED GENET. 60, 12, p. 1186-1197 12 p.

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

  5. 2021

  6. Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction

    Galeotti, A. A., Gentiluomo, M., Rizzato, C., Obazee, O., Neoptolemos, J. P., Pasquali, C., Nentwich, M., Cavestro, G. M., Pezzilli, R., Greenhalf, W., Holleczek, B., Schroeder, C., Schöttker, B., Ivanauskas, A., Ginocchi, L., Key, T. J., Hegyi, P., Archibugi, L., Darvasi, E., Basso, D., Sperti, C., Bijlsma, M. F., Palmieri, O., Hlavac, V., Talar-Wojnarowska, R., Mohelnikova-Duchonova, B., Hackert, T., Vashist, Y., Strouhal, O., van Laarhoven, H., Tavano, F., Lovecek, M., Dervenis, C., Izbéki, F., Padoan, A., Małecka-Panas, E., Maiello, E., Vanella, G., Capurso, G., Izbicki, J. R., Theodoropoulos, G. E., Jamroziak, K., Katzke, V., Kaaks, R., Mambrini, A., Papanikolaou, I. S., Szmola, R., Szentesi, A., Kupcinskas, J., Bursi, S., Costello, E., Boggi, U., Milanetto, A. C., Landi, S., Gazouli, M., Vodickova, L., Soucek, P., Gioffreda, D., Gemignani, F., Brenner, H., Strobel, O., Büchler, M., Vodicka, P., Paiella, S., Canzian, F. & Campa, D., 06.2021, In: J MED GENET. 58, 6, p. 369-377 9 p.

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

  7. 2020

  8. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

    Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A., Geneviève, D., Guillen Sacoto, M. J., Guimier, A., Harris, D. J., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Koshimizu, E., Lichtenbelt, K., Loik Ramey, V., Maik, M., Miyakate, S., Murakami, Y., Pasquier, L., Pedro, H., Simone, L., Sondergaard-Schatz, K., St-Onge, J., Thevenon, J., Valenzuela, I., Abou Jamra, R., van Gassen, K., van Haelst, M. M., van Koningsbruggen, S., Verdura, E., Whelan Habela, C., Zacher, P., Rivière, J-B., Thauvin-Robinet, C., Betschinger, J. & Faivre, L., 12.2020, In: J MED GENET. 57, 12, p. 808-819 12 p.

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

  9. 2019

  10. Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883)

    Hauke, J., Hahnen, E., Schneider, S., Reuss, A., Richters, L., Kommoss, S., Heimbach, A., Marmé, F., Schmidt, S., Prieske, K., Gevensleben, H., Burges, A., Borde, J., De Gregorio, N., Nürnberg, P., El-Balat, A., Thiele, H., Hilpert, F., Altmüller, J., Meier, W., Dietrich, D., Kimmig, R., Schoemig-Markiefka, B., Kast, K., Braicu, E., Baumann, K., Jackisch, C., Park-Simon, T-W., Ernst, C., Hanker, L., Pfisterer, J., Schnelzer, A., du Bois, A., Schmutzler, R. K. & Harter, P., 09.2019, In: J MED GENET. 56, 9, p. 574-580 7 p.

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

  11. 2016

  12. 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

  13. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

    Easton, D. F., Lesueur, F., Decker, B., Michailidou, K., Li, J., Allen, J., Luccarini, C., Pooley, K. A., Shah, M., Bolla, M. K., Wang, Q., Dennis, J., Ahmad, J., Thompson, E. R., Damiola, F., Pertesi, M., Voegele, C., Mebirouk, N., Robinot, N., Durand, G., Forey, N., Luben, R. N., Ahmed, S., Aittomäki, K., Anton-Culver, H., Arndt, V., Baynes, C., Beckman, M. W., Benitez, J., Van Den Berg, D., Blot, W. J., Bogdanova, N. V., Bojesen, S. E., Brenner, H., Chang-Claude, J., Chia, K. S., Choi, J-Y., Conroy, D. M., Cox, A., Cross, S. S., Czene, K., Darabi, H., Devilee, P., Eriksson, M., Fasching, P. A., Figueroa, J., Flyger, H., Fostira, F., García-Closas, M., Giles, G. G., Glendon, G., González-Neira, A., Guénel, P., Haiman, C. A., Hall, P., Hart, S. N., Hartman, M., Hooning, M. J., Hsiung, C-N., Ito, H., Jakubowska, A., James, P. A., John, E. M., Johnson, N., Jones, M., Kabisch, M., Kang, D., Kosma, V-M., Kristensen, V., Lambrechts, D., Li, N., Lindblom, A., Long, J., Lophatananon, A., Lubinski, J., Mannermaa, A., Manoukian, S., Margolin, S., Matsuo, K., Meindl, A., Mitchell, G., Muir, K., Nevelsteen, I., van den Ouweland, A., Peterlongo, P., Phuah, S. Y., Pylkäs, K., Rowley, S. M., Sangrajrang, S., Schmutzler, R. K., Shen, C-Y., Shu, X-O., Southey, M. C., Surowy, H., Swerdlow, A., Teo, S. H., Tollenaar, R. A. E. M., Tomlinson, I., Torres, D., Truong, T., Vachon, C., Verhoef, S., Wong-Brown, M., Zheng, W., Zheng, Y., Nevanlinna, H., Scott, R. J., Andrulis, I. L., Wu, A. H., Hopper, J. L., Couch, F. J., Winqvist, R., Burwinkel, B., Sawyer, E. J., Schmidt, M. K., Rudolph, A., Dörk, T., Brauch, H., Hamann, U., Neuhausen, S. L., Milne, R. L., Fletcher, O., Pharoah, P. D. P., Campbell, I. G., Dunning, A. M., Le Calvez-Kelm, F., Goldgar, D. E., Tavtigian, S. V., Chenevix-Trench, G. & Australian Ovarian Cancer Study, 05.2016, In: J MED GENET. 53, 5, p. 298-309 12 p.

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

  14. 2015

  15. Genome-wide significant association with seven novel multiple sclerosis risk loci

    Lill, C. M., Luessi, F., Alcina, A., Sokolova, E. A., Ugidos, N., de la Hera, B., Guillot-Noël, L., Malhotra, S., Reinthaler, E., Schjeide, B-M. M., Mescheriakova, J. Y., Mashychev, A., Wohlers, I., Akkad, D. A., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Astobiza, I., Blaschke, P., Boyko, A. N., Buttmann, M., Chan, A., Dörner, T., Epplen, J. T., Favorova, O. O., Fedetz, M., Fernández, O., García-Martínez, A., Gerdes, L-A., Graetz, C., Hartung, H-P., Hoffjan, S., Izquierdo, G., Korobko, D. S., Kroner, A., Kubisch, C., Kümpfel, T., Leyva, L., Lohse, P., Malkova, N. A., Montalban, X., Popova, E. V., Rieckmann, P., Rozhdestvenskii, A. S., Schmied, C., Smagina, I. V., Tsareva, E. Y., Winkelmann, A., Zettl, U. K., Binder, H., Cournu-Rebeix, I., Hintzen, R., Zimprich, A., Comabella, M., Fontaine, B., Urcelay, E., Vandenbroeck, K., Filipenko, M., Matesanz, F., Zipp, F. & Bertram, L., 12.2015, In: J MED GENET. 52, 12, p. 848-855

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

  16. Neurogenetic evidence in the courtroom: a randomised controlled trial with German judges

    Fuß, J., Dressing, H. & Briken, P., 01.11.2015, In: J MED GENET. 52, 11, p. 730-737 8 p.

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

  17. Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria

    Danecka, M. K., Woidy, M., Zschocke, J., Feillet, F., Muntau, A. C. & Gersting, S. W., 03.2015, In: J MED GENET. 52, 3, p. 175-185 11 p.

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

  18. 2014

  19. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

    Akimoto, C., Volk, A., van Blitterswijk, M., Van den Broeck, M., Leblond, C. S., Lumbroso, S., Camu, W., Neitzel, B., Onodera, O., van Rheenen, W., Pinto, S., Weber, M., Smith, B., Proven, M., Talbot, K., Keagle, P., Chesi, A., Ratti, A., van der Zee, J., Alstermark, H., Birve, A., Calini, D., Nordin, A., Tradowsky, D. C., Just, W., Daoud, H., Angerbauer, S., DeJesus-Hernandez, M., Konno, T., Lloyd-Jani, A., de Carvalho, M., Mouzat, K., Landers, J. E., Veldink, J. H., Silani, V., Gitler, A. D., Shaw, C. E., Rouleau, G. A., van den Berg, L. H., Van Broeckhoven, C., Rademakers, R., Andersen, P. M. & Kubisch, C., 01.06.2014, In: J MED GENET. 51, 6, p. 419-24 6 p.

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

  20. 2013

  21. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M., Frints, S., Wilcken, B., von der Haar, S., Meijers-Heijboer, H. E., Hofstede, F., Johnson, D., Kant, S. G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J. A., Monteiro, J. P., Munnich, A., Muntau, A. C., Nassogne, M. C., Osaka, H., Ounap, K., Pinard, J. M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O., Ribes, A., Arias, A., Yaplito-Lee, J., Schulze, A., Schwartz, C. E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Van Esch, H., Waltz, S., Wamelink, M. M. C., Pouwels, P. J. W., Errami, A., van der Knaap, M. S., Jakobs, C., Mancini, G. M. & Salomons, G. S., 01.07.2013, In: J MED GENET. 50, 7, p. 463-72 10 p.

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

  22. Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

    Lill, C. M., Schjeide, B-M. M., Graetz, C., Liu, T., Damotte, V., Akkad, D. A., Blaschke, P., Gerdes, L-A., Kroner, A., Luessi, F., Cournu-Rebeix, I., Hoffjan, S., Winkelmann, A., Touze, E., Pico, F., Corcia, P., Otaegui, D., Antigüedad, A., Alcina, A., Comabella, M., Montalban, X., Olascoaga, J., Matesanz, F., Dörner, T., Li, S-C., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Rieckmann, P., Hartung, H-P., Aktas, O., Lohse, P., Buttmann, M., Kümpfel, T., Kubisch, C., Zettl, U. K., Epplen, J. T., Fontaine, B., Zipp, F., Vandenbroeck, K. & Bertram, L., 01.03.2013, In: J MED GENET. 50, 3, p. 140-3 4 p.

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

  23. 2012

  24. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

    Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topçu, M., Gökben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O. & Lehesjoki, A-E., 01.06.2012, In: J MED GENET. 49, 6, p. 391-9 9 p.

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

  25. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

    Klopocki, E., Lohan, S., Doelken, S. C., Stricker, S., Ockeloen, C. W., Soares Thiele de Aguiar, R., Lezirovitz, K., Mingroni Netto, R. C., Jamsheer, A., Shah, H., Kurth, I., Habenicht, R., Warman, M., Devriendt, K., Kordass, U., Hempel, M., Rajab, A., Mäkitie, O., Naveed, M., Radhakrishna, U., Antonarakis, S. E., Horn, D. & Mundlos, S., 02.2012, In: J MED GENET. 49, 2, p. 119-25 7 p.

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

  26. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.

    Lill, C. M., Liu, T., Schjeide, B-M. M., Roehr, J. T., Akkad, D. A., Damotte, V., Alcina, A., Ortiz, M. A., Arroyo, R., Aitzkoa, L. D. L., Blaschke, P., Winkelmann, A., Gerdes, L-A., Luessi, F., Fernadez, O., Izquierdo, G., Antigüedad, A., Hoffjan, S., Cournu-Rebeix, I., Gromöller, S., Faber, H., Liebsch, M., Meissner, E., Chanvillard, C., Touze, E., Pico, F., Corcia, P., Dörner, T., Steinhagen-Thiessen, E., Baeckman, L., Heekeren, H. R., Li, S-C., Lindenberger, U., Chan, A., Hartung, H-P., Aktas, O., Lohse, P., Kümpfel, T., Kubisch, C., Zettl, U. K., Fontaine, B., Vandenbroeck, K., Matesanz, F., Urcelay, E., Bertram, L. & Zipp, F., 2012, In: J MED GENET. 49, 9, p. 558-562 9.

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

  27. 2011

  28. Identification of quantitative trait loci for murine autoimmune pancreatitis

    Asghari, F., Fitzner, B., Holzhüter, S-A., Nizze, H., de Castro Marques, A., Müller, S., Möller, S., Ibrahim, S. M. & Jaster, R., 08.2011, In: J MED GENET. 48, 8, p. 557-62 6 p.

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

  29. Cohen syndrome diagnosis using whole genome arrays

    Rivera-Brugués, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Göhring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H-E., Meitinger, T., Strom, T. M. & Hempel, M., 02.2011, In: J MED GENET. 48, 2, p. 136-40 5 p.

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

  30. 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

    Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Zamora, M. P., Benítez, J., Humphreys, M. K., García-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Mannermaa, A., Kataja, V., Kosma, V-M., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., Anton-Culver, H., Ziogas, A., Devilee, P., Asperen, V., Christie, J., Tollenaar, R. A. E. M., Seynaeve, C., Hall, P., Czene, K., Liu, J., Irwanto, A. K., Kang, D., Yoo, K-Y., Noh, D-Y., Couch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Nordestgaard, B. G., Bojesen, S. E., Flyger, H., Margolin, S., Lindblom, A., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Wang-Gohrke, S., Shen, C-Y., Yu, J-C., Hsu, H-M., Wu, P-E., Giles, G. G., Severi, G., Baglietto, L., English, D. R., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Beesley, J., Chen, X., Investigators, K., Group, AOCS., Fletcher, O., Gibson, L., Isabel, D. S. S., Peto, J., Frank, B., Heil, J., Meindl, A., Chang-Claude, J., Hein, R., Flesch-Janys, D., Flesch-Janys, D., Southey, M. C., Smith, L., Apicella, C., Hopper, J. L., Dunning, A. M., Pooley, K. A., Pharoah, P. D. P., Hamann, U., Pesch, B., Ko, Y-D., Network, GENICA., Easton, D. F. & Chenevix-Trench, G., 2011, In: J MED GENET. 48, 10, p. 698-702 10.

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

  31. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

    Sieni, E., Cetica, V., Santoro, A., Beutel, K., Mastrodicasa, E., Meeths, M., Ciambotti, B., Brugnolo, F., Zur Stadt, U., Pende, D., Moretta, L., Griffiths, G. M., Henter, J-I., Janka-Schaub, G. & Aricò, M., 2011, In: J MED GENET. 48, 5, p. 343-352 5.

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

  32. Phenotypic spectrum associated with CASK loss-of-function mutations.

    Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., Engels, H., Hilde, V. E., Grasshoff, U., Heise, M., Isidor, B., Jarvis, J., Koehler, U., Martin, T., Oehl-Jaschkowitz, B., Ortibus, E., Pilz, D. T., Prabhakar, P., Rappold, G., Rau, I., Rettenberger, G., Schlüter, G., Scott, R. H., Shoukier, M., Wohlleber, E., Zirn, B., Dobyns, W. B. & Uyanik, G., 2011, In: J MED GENET. 48, 11, p. 741-751 11.

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

  33. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

    Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K. & Dobyns, W. B., 2011, In: J MED GENET. 48, 6, p. 396-406 6.

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

  34. 2010

  35. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.

    Mautner, V. F., Kluwe, L., Friedrich, R., Roehl, A. C., Bammert, S., Högel, J., Spöri, H., Cooper, D. N. & Kehrer-Sawatzki, H., 2010, In: J MED GENET. 47, 9, p. 623-630 9.

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

  36. Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1.

    Stewart, D. R., Sloan, J. L., Yao, L., Mannes, A. J., Armin, M., Lee, C-C. R., Sciot, R., Luc, D. S., Mautner, V. F. & Legius, E., 2010, In: J MED GENET. 47, 8, p. 525-532 8.

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

  37. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

    Cetica, V., Santoro, A., Gilmour, K. C., Sieni, E., Beutel, K., Pende, D., Marcenaro, S., Koch, F., Grieve, S., Wheeler, R., Zhao, F., Zur Stadt, U., Griffiths, G. M. & Aricò, M., 2010, In: J MED GENET. 47, 9, p. 595-600 9.

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

  38. 2009

  39. Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1).

    Tucker, T., Schnabel, C., Hartmann, M., Friedrich, R., Frieling, I., Kruse, H-P., Mautner, V. F. & Friedman, J. M., 2009, In: J MED GENET. 46, 4, p. 259-265 4.

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

  40. Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas.

    Tucker, T., Friedman, J. M., Friedrich, R., Wenzel, R., Fünsterer, C. & Mautner, V. F., 2009, In: J MED GENET. 46, 2, p. 81-85 2.

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

  41. 2008

  42. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

    Trizzino, A., Zur Stadt, U., Ueda, I., Risma, K., Janka, G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S., Pende, D., Mian, A., Henter, J-I., Janka-Schaub, G., Santoro, A., Filipovich, A. & Aricò, M., 2008, In: J MED GENET. 45, 1, p. 15-21 1.

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

  43. 2007

  44. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

    Zenker, M., Lehmann, K., Schulz, A. L., Barth, H., Hansmann, D., Koenig, R., Korinthenberg, R., Kreiss-Nachtsheim, M., Meinecke, P., Morlot, S., Mundlos, S., Quante, A. S., Raskin, S., Schnabel, D., Wehner, L-E., Kratz, C. P., Horn, D. & Kutsche, K., 2007, In: J MED GENET. 44, 2, p. 131-135 2.

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

  45. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

    Zenker, M., Horn, D., Wieczorek, D., Allanson, J., Pauli, S., van der Burgt, I., Doerr, H-G., Gaspar, H., Hofbeck, M., Gillessen-Kaesbach, G., Koch, A., Meinecke, P., Mundlos, S., Nowka, A., Rauch, A., Reif, S., von Schnakenburg, C., Seidel, H., Wehner, L-E., Zweier, C., Bauhuber, S., Matejas, V., Kratz, C. P., Thomas, C. & Kutsche, K., 2007, In: J MED GENET. 44, 10, p. 651-656 10.

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

  46. 2006

  47. Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1.

    Lammert, M., Friedman, J. M., Roth, H. J., Friedrich, R., Kluwe, L., Atkins, D., Schooler, T. & Mautner, V. F., 2006, In: J MED GENET. 43, 10, p. 810-813 10.

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

  48. 2003

  49. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

    Kluwe, L., Mautner, V., Heinrich, B., Dezube, R., Jacoby, L. B., Friedrich, R. E. & MacCollin, M., 01.02.2003, In: J MED GENET. 40, 2, p. 109-14 6 p.

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

  50. 2001

  51. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.

    Clementi, R., Zur Stadt, U., Savoldi, G., Varoitto, S., Conter, V., De Fusco, C., Notarangelo, L. D., Schneider, M., Klersy, C., Janka-Schaub, G., Danesino, C. & Aricò, M., 2001, In: J MED GENET. 38, 9, p. 643-646 9.

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

  52. 2000

  53. DiGeorge syndrome with discordant phenotype in monozygotic twins.

    Hillebrand, G., Siebert, R., Simeoni, E. & Santer, R., 2000, In: J MED GENET. 37, 9, p. 23 9.

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