Institute of Human Genetics

Publications

  1. 2024
  2. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

    Kaiyrzhanov, R., Rad, A., Lin, S-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Ghayoor Karimiani, E., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T., Alvi, J. R., Ganieva, M., Fowler, B., Aanicai, R., Akay Tayfun, G., Al Saman, A., Alswaid, A., Amiri, N., Asilova, N., Shotelersuk, V., Yeetong, P., Azam, M., Babaei, M., Bahrami Monajemi, G., Mohammadi, P., Samie, S., Banu, S. H., Basto, J. P., Kortüm, F., Bauer, M., Bauer, P., Beetz, C., Garshasbi, M., Hameed Issa, A., Eyaid, W., Ahmed, H., Hashemi, N., Hassanpour, K., Herman, I., Ibrohimov, S., Abdul-Majeed, B. A., Imdad, M., Isrofilov, M., Kaiyal, Q., Khan, S., Kirmse, B., Koster, J., Lourenço, C. M., Mitani, T., Moldovan, O., Murphy, D., Najafi, M., Pehlivan, D., Rocha, M. E., Salpietro, V., Schmidts, M., Shalata, A., Mahroum, M., Talbeya, J. K., Taylor, R. W., Vazquez, D., Vetro, A., Waterham, H. R., Zaman, M., Schrader, T. A., Chung, W. K., Guerrini, R., Lupski, J. R., Gleeson, J., Suri, M., Jamshidi, Y., Bhatia, K. P., Vona, B., Schrader, M., Severino, M., Guille, M., Tate, E. W., Varshney, G. K., Houlden, H. & Maroofian, R., 04.04.2024, In: BRAIN. 147, 4, p. 1436–1456 21 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. PSA-density, DRE, and PI-RADS 5: potential surrogates for omitting biopsy?

    Falkenbach, F., Ambrosini, F., Kachanov, M., Ortner, G., Maurer, T., Köhler, D., Beyersdorff, D., Graefen, M. & Budäus, L., 20.03.2024, In: WORLD J UROL. 42, 1, p. 182

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  4. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

    Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R. W., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N. M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., van der Ven, A. T., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J. A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L. & Wagner, M., 02.2024, In: GENET MED. 26, 2, 101013.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  5. The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling

    Woike, D., Tibbe, D., Hassani Nia, F., Martens, V., Wang, E., Barsukov, I. & Kreienkamp, H-J., 02.2024, In: MOL NEUROBIOL. 61, 2, p. 693-706 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  6. Size of lymph-node metastases in prostate cancer patients undergoing radical prostatectomy: implication for imaging and oncologic follow-up of 2705 lymph-node positive patients

    Falkenbach, F., Kachanov, M., Leyh-Bannurah, S-R., Maurer, T., Knipper, S., Köhler, D., Graefen, M., Sauter, G. & Budäus, L., 20.01.2024, In: WORLD J UROL. 42, 1, 38.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  7. Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

    Worthmann, A., Ridder, J., Piel, S. Y. L., Evangelakos, I., Musfeldt, M., Voß, H., O'Farrell, M., Fischer, A. W., Adak, S., Sundd, M., Siffeti, H., Haumann, F., Kloth, K., Bierhals, T., Heine, M., Pertzborn, P., Pauly, M., Scholz, J-J., Kundu, S., Fuh, M. M., Neu, A., Tödter, K., Hempel, M., Knippschild, U., Semenkovich, C. F., Schlüter, H., Heeren, J., Scheja, L., Kubisch, C. & Schlein, C., 02.01.2024, In: NAT COMMUN. 15, 1, p. 45

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  8. 2023
  9. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Wang, A., Shen, J., Rodriguez, A. A., Saunders, E. J., Chen, F., Janivara, R., Darst, B. F., Sheng, X., Xu, Y., Chou, A. J., Benlloch, S., Dadaev, T., Brook, M. N., Plym, A., Sahimi, A., Hoffman, T. J., Takahashi, A., Matsuda, K., Momozawa, Y., Fujita, M., Laisk, T., Figuerêdo, J., Muir, K., Ito, S., Liu, X., Uchio, Y., Kubo, M., Kamatani, Y., Lophatananon, A., Wan, P., Andrews, C., Lori, A., Choudhury, P. P., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Giles, G. G., Southey, M. C., MacInnis, R. J., Cybulski, C., Wokolorczyk, D., Lubinski, J., Rentsch, C. T., Cho, K., Mcmahon, B. H., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bojesen, S. E., Røder, A., Stroomberg, H. V., Batra, J., Chambers, S., Horvath, L., Clements, J. A., Tilly, W., Risbridger, G. P., Gronberg, H., Aly, M., Szulkin, R., Eklund, M., Nordstrom, T., Pashayan, N., Dunning, A. M., Ghoussaini, M., Travis, R. C., Key, T. J., Riboli, E., Park, J. Y., Sellers, T. A., Lin, H-Y., Albanes, D., Weinstein, S., Cook, M. B., Mucci, L. A., Giovannucci, E., Lindstrom, S., Kraft, P., Hunter, D. J., Penney, K. L., Turman, C., Tangen, C. M., Goodman, P. J., Thompson, I. M., Hamilton, R. J., Fleshner, N. E., Finelli, A., Parent, M-É., Stanford, J. L., Ostrander, E. A., Koutros, S., Beane Freeman, L. E., Stampfer, M., Wolk, A., Håkansson, N., Andriole, G. L., Hoover, R. N., Machiela, M. J., Sørensen, K. D., Borre, M., Blot, W. J., Zheng, W., Yeboah, E. D., Mensah, J. E., Lu, Y-J., Zhang, H-W., Feng, N., Mao, X., Wu, Y., Zhao, S-C., Sun, Z., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., West, C. M. L., Barnett, G., Maier, C., Schnoeller, T., Luedeke, M., Kibel, A. S., Drake, B. F., Cussenot, O., Cancel-Tassin, G., Menegaux, F., Truong, T., Koudou, Y. A., John, E. M., Grindedal, E. M., Maehle, L., Khaw, K-T., Ingles, S. A., Stern, M. C., Vega, A., Gómez-Caamaño, A., Fachal, L., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Teixeira, M. R., Paulo, P., Brandão, A., Watya, S., Lubwama, A., Bensen, J. T., Butler, E. N., Mohler, J. L., Taylor, J. A., Kogevinas, M., Dierssen-Sotos, T., Castaño-Vinyals, G., Cannon-Albright, L., Teerlink, C. C., Huff, C. D., Pilie, P., Yu, Y., Bohlender, R. J., Gu, J., Strom, S. S., Multigner, L., Blanchet, P., Brureau, L., Kaneva, R., Slavov, C., Mitev, V., Leach, R. J., Brenner, H., Chen, X., Holleczek, B., Schöttker, B., Klein, E. A., Hsing, A. W., Kittles, R. A., Murphy, A. B., Logothetis, C. J., Kim, J., Neuhausen, S. L., Steele, L., Ding, Y. C., Isaacs, W. B., Nemesure, B., Hennis, A. J. M., Carpten, J., Pandha, H., Michael, A., De Ruyck, K., De Meerleer, G., Ost, P., Xu, J., Razack, A., Lim, J., Teo, S-H., Newcomb, L. F., Lin, D. W., Fowke, J. H., Neslund-Dudas, C. M., Rybicki, B. A., Gamulin, M., Lessel, D., Kulis, T., Usmani, N., Abraham, A., Singhal, S., Parliament, M., Claessens, F., Joniau, S., Van den Broeck, T., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Bush, W. S., Aldrich, M. C., Crawford, D. C., Srivastava, S., Cullen, J., Petrovics, G., Casey, G., Wang, Y., Tettey, Y., Lachance, J., Tang, W., Biritwum, R. B., Adjei, A. A., Tay, E., Truelove, A., Niwa, S., Yamoah, K., Govindasami, K., Chokkalingam, A. P., Keaton, J. M., Hellwege, J. N., Clark, P. E., Jalloh, M., Gueye, S. M., Niang, L., Ogunbiyi, O., Shittu, O., Amodu, O., Adebiyi, A. O., Aisuodionoe-Shadrach, O. I., Ajibola, H. O., Jamda, M. A., Oluwole, O. P., Nwegbu, M., Adusei, B., Mante, S., Darkwa-Abrahams, A., Diop, H., Gundell, S. M., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Hu, J. J., Sanderson, M., Kachuri, L., Varma, R., McKean-Cowdin, R., Torres, M., Preuss, M. H., Loos, R. J. F., Zawistowski, M., Zöllner, S., Lu, Z., Van Den Eeden, S. K., Easton, D. F., Ambs, S., Edwards, T. L., Mägi, R., Rebbeck, T. R., Fritsche, L., Chanock, S. J., Berndt, S. I., Wiklund, F., Nakagawa, H., Witte, J. S., Gaziano, J. M., Justice, A. C., Mancuso, N., Terao, C., BioBank Japan Project, Eeles, R. A., Kote-Jarai, Z., Madduri, R. K., Conti, D. V. & Haiman, C. A., 12.2023, In: NAT GENET. 55, 12, p. 2065-2074 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  10. Further Association of Germline CHEK2 Loss-of-Function Variants with Testicular Germ Cell Tumors

    Kirchner, K., Seidel, C., Paulsen, F-O., Sievers, B., Bokemeyer, C. & Lessel, D., 13.11.2023, In: J CLIN MED. 12, 22, 7065.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  11. AATD as a genetic risk factor for aneurysmal disease - Authors' reply

    von Kodolitsch, Y., Kubisch, C. & Carrel, T., 04.11.2023, In: LANCET. 402, 10413, p. 1626 1 p.

    Research output: SCORING: Contribution to journalComment/debateResearch

  12. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

    Mah-Som, A. Y., Daw, J., Huynh, D., Wu, M., Creekmore, B. C., Burns, W., Skinner, S. A., Holla, Ø. L., Smeland, M. F., Planes, M., Uguen, K., Redon, S., Bierhals, T., Scholz, T., Denecke, J., Mensah, M. A., Sczakiel, H. L., Tichy, H., Verheyen, S., Blatterer, J., Schreiner, E., Thies, J., Lam, C., Spaeth, C. G., Pena, L., Ramsey, K., Narayanan, V., Seaver, L. H., Rodriguez, D., Afenjar, A., Burglen, L., Lee, E. B., Chou, T-F., Weihl, C. C. & Shinawi, M. S., 02.11.2023, In: AM J HUM GENET. 110, 11, p. 1959-1975 17 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  13. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  14. Cluster headache genome-wide association study and meta-analysis identifies eight loci and implicates smoking as causal risk factor

    Winsvold, B. S., Harder, A. V. E., Ran, C., Chalmer, M. A., Dalmasso, M. C., Ferkingstad, E., Tripathi, K. P., Bacchelli, E., Børte, S., Fourier, C., Petersen, A. S., Vijfhuizen, L. S., Magnusson, S. H., O'Connor, E., Bjornsdottir, G., Häppölä, P., Wang, Y-F., Callesen, I., Kelderman, T., Gallardo, V. J., de Boer, I., Jennysdotter Olofsgård, F., Heinze, K., Lund, N., Thomas, L. F., Hsu, C-L., Pirinen, M., Hautakangas, H., Ribasés, M., Guerzoni, S., Sivakumar, P., Yip, J., Heinze, A., Küçükali, F., Ostrowski, S. R., Pedersen, O. B., Kristoffersen, E. S., Martinsen, A. E., Artigas, M. S., Lagrata, S., Cainazzo, M. M., Adebimpe, J., Quinn, O., Göbel, C., Cirkel, A., Volk, A. E., Heilmann-Heimbach, S., Skogholt, A. H., Gabrielsen, M. E., Wilbrink, L. A., Danno, D., Mehta, D., Guðbjartsson, D. F., Rosendaal, F. R., Willems van Dijk, K., Fronczek, R., Wagner, M., Scherer, M., Göbel, H., Sleegers, K., Sveinsson, O. A., Pani, L., Zoli, M., Ramos-Quiroga, J. A., Dardiotis, E., Steinberg, A., Riedel-Heller, S., Sjöstrand, C., Thorgeirsson, T. E., Stefansson, H., Southgate, L., Trembath, R. C., Vandrovcova, J., Noordam, R., Paemeleire, K., Stefansson, K., Fann, C. S-J., Waldenlind, E., Tronvik, E., Jensen, R. H., Chen, S-P., Houlden, H., Terwindt, G. M., Kubisch, C., Maestrini, E., Vikelis, M., Pozo-Rosich, P., Belin, A. C., Matharu, M., van den Maagdenberg, A. M. J. M., Hansen, T. F., Ramirez, A., Zwart, J-A. & HUNT All-In Headache, The International Headache Genetics Consortium, DBDS Genomic Consortium, 10.2023, In: ANN NEUROL. 94, 4, p. 713-726 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  15. de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

    Harms, F. L., Dingemans, A. J. M., Hempel, M., Pfundt, R., Bierhals, T., Casar, C., Müller, C., Niermeijer, J-M. F., Fischer, J., Jahn, A., Hübner, C., Majore, S., Agolini, E., Novelli, A., van der Smagt, J., Ernst, R., van Binsbergen, E., Mancini, G. M. S., van Slegtenhorst, M., Barakat, T. S., Wakeling, E. L., Kamath, A., Downie, L., Pais, L., White, S. M., de Vries, B. B. A. & Kutsche, K., 10.2023, In: GENET MED. 25, 10, p. 100927

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  16. AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

    Terhal, P., Venhuizen, A. J., Lessel, D., Tan, W-H., Alswaid, A., Grün, R., Alzaidan, H. I., von Kroge, S., Ragab, N., Hempel, M., Kubisch, C., Novais, E., Cristobal, A., Tripolszki, K., Bauer, P., Fischer-Zirnsak, B., Nievelstein, R. A. J., van Dijk, A., Nikkels, P., Oheim, R., Hahn, H., Bertoli-Avella, A., Maurice, M. M. & Kornak, U., 07.09.2023, In: AM J HUM GENET. 110, 9, p. 1470-1481 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  17. A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

    Saadi, A., Navarro, C., Ozalp, O., Lourenco, C. M., Fayek, R., Da Silva, N., Chaouch, A., Benahmed, M., Kubisch, C., Munnich, A., Lévy, N., Roll, P., Pacha, L. A., Chaouch, M., Lessel, D. & De Sandre-Giovannoli, A., 09.2023, In: AM J MED GENET A. 191, 9, p. 2274-2289 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  18. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

    Engel, C., Valence, S., Delplancq, G., Maroofian, R., Accogli, A., Agolini, E., Alkuraya, F. S., Baglioni, V., Bagnasco, I., Becmeur-Lefebvre, M., Bertini, E., Borggraefe, I., Brischoux-Boucher, E., Bruel, A-L., Brusco, A., Bubshait, D. K., Cabrol, C., Cilio, M. R., Cornet, M-C., Coubes, C., Danhaive, O., Delague, V., Denommé-Pichon, A-S., Di Giacomo, M. C., Doco-Fenzy, M., Engels, H., Cremer, K., Gérard, M., Gleeson, J. G., Heron, D., Goffeney, J., Guimier, A., Harms, F. L., Houlden, H., Iacomino, M., Kaiyrzhanov, R., Kamien, B., Karimiani, E. G., Kraus, D., Kuentz, P., Kutsche, K., Lederer, D., Massingham, L., Mignot, C., Morris-Rosendahl, D., Nagarajan, L., Odent, S., Ormières, C., Partlow, J. N., Pasquier, L., Penney, L., Philippe, C., Piccolo, G., Poulton, C., Putoux, A., Rio, M., Rougeot, C., Salpietro, V., Scheffer, I., Schneider, A., Srivastava, S., Straussberg, R., Striano, P., Valente, E. M., Venot, P., Villard, L., Vitobello, A., Wagner, J., Wagner, M., Zaki, M. S., Zara, F., Lesca, G., Yassaee, V. R., Miryounesi, M., Hashemi-Gorji, F., Beiraghi, M., Ashrafzadeh, F., Galehdari, H., Walsh, C., Novelli, A., Tacke, M., Sadykova, D., Maidyrov, Y., Koneev, K., Shashkin, C., Capra, V., Zamani, M., Van Maldergem, L., Burglen, L. & Piard, J., 09.2023, In: EUR J HUM GENET. 31, 9, p. 1023-1031 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  19. TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

    Holling, T., Brylka, L. J., Scholz, T., Bierhals, T., Herget, T., Meinecke, P., Schinke, T., Oheim, R. & Kutsche, K., 09.2023, In: J BONE MINER RES. 38, 9, p. 1334-1349 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  20. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., Achatz, M. I., Ambrosone, C., Apostolou, P., Arun, B. K., Auer, P., Barnard, M., Bertelsen, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I., Chan, S. H., Chen, F., Chiang, J. B., Coppa, A., Cortesi, L., Crujeiras-González, A., De Leeneer, K., De Putter, R., DePersia, A., Devereux, L., Domchek, S., Efremidis, A., Engel, C., Ernst, C., Evans, D. G. R., Feliubadaló, L., Fostira, F., Fuentes-Ríos, O., Gómez-García, E. B., González, S., Haiman, C., Hansen, T. V. O., Hauke, J., Hodge, J., Hu, C., Huang, H., Ishak, N. D. B., Iwasaki, Y., Konstantopoulou, I., Kraft, P., Lacey, J., Lázaro, C., Li, N., Lim, W. K., Lindstrom, S., Lori, A., Martinez, E., Martins, A., Matsuda, K., Matullo, G., McInerny, S., Michailidou, K., Montagna, M., Monteiro, A. N. A., Mori, L., Nathanson, K., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Palmer, J., Pasini, B., Patel, A., Piane, M., Poppe, B., Radice, P., Renieri, A., Resta, N., Richardson, M. E., Rosseel, T., Ruddy, K. J., Santamariña, M., Dos Santos, E. S., Teras, L., Toland, A. E., Trentham-Dietz, A., Vachon, C. M., Volk, A. E., Weber-Lassalle, N., Weitzel, J. N., Wiesmuller, L., Winham, S., Yadav, S., Yannoukakos, D., Yao, S., Zampiga, V., Zethoven, M., Zhang, Z. W., Zima, T., Spurdle, A. B., Vega, A., Rossing, M., Del Valle, J., De Nicolo, A., Hahnen, E., Claes, K. B. M., Ngeow, J., Biobank Japan, Momozawa, Y., James, P. A., Couch, F. J., Macurek, L. & Kleibl, Z., 15.08.2023, In: CLIN CANCER RES. 29, 16, p. 3037-3050 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  21. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

    Block, J., Rashkova, C., Castanon, I., Zoghi, S., Platon, J., Ardy, R. C., Fujiwara, M., Chaves, B., Schoppmeyer, R., van der Made, C. I., Jimenez Heredia, R., Harms, F. L., Alavi, S., Alsina, L., Sanchez Moreno, P., Ávila Polo, R., Cabrera-Pérez, R., Kostel Bal, S., Pfajfer, L., Ransmayr, B., Mautner, A-K., Kondo, R., Tinnacher, A., Caldera, M., Schuster, M., Domínguez Conde, C., Platzer, R., Salzer, E., Boyer, T., Brunner, H. G., Nooitgedagt-Frons, J. E., Iglesias, E., Deyà-Martinez, A., Camacho-Lovillo, M., Menche, J., Bock, C., Huppa, J. B., Pickl, W. F., Distel, M., Yoder, J. A., Traver, D., Engelhardt, K. R., Linden, T., Kager, L., Hannich, J. T., Hoischen, A., Hambleton, S., Illsinger, S., Da Costa, L., Kutsche, K., Chavoshzadeh, Z., van Buul, J. D., Antón, J., Calzada-Hernández, J., Neth, O., Viaud, J., Nishikimi, A., Dupré, L. & Boztug, K., 10.08.2023, In: NEW ENGL J MED. 389, 6, p. 527-539 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  22. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

    Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kortüm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K., Srinivasan, V. M., Bakhtiari, S., Kruer, M. C., Salih, M. A., Kuechler, A., Muller, E. A., Blocker, K., Kuismin, O., Park, K. L., Kochhar, A., Brown, K., Ramanathan, S., Clark, R. D., Elgizouli, M., Melikishvili, G., Tabatadze, N., Stark, Z., Mirzaa, G. M., Ong, J., Grasshoff, U., Bevot, A., von Wintzingerode, L., Jamra, R. A., Hennig, Y., Goldenberg, P., Al Alam, C., Charif, M., Boulouiz, R., Bellaoui, M., Amrani, R., Al Mutairi, F., Tamim, A. M., Abdulwahab, F., Alkuraya, F. S., Khouj, E. M., Alvi, J. R., Sultan, T., Hashemi, N., Karimiani, E. G., Ashrafzadeh, F., Imannezhad, S., Efthymiou, S., Houlden, H., Sticht, H. & Zweier, C., 08.2023, In: GENET MED. 25, 8, p. 100885

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  23. Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature

    Wilke, P. I., Biermann, D., Grafmann, M., Kozlik-Feldmann, R., Papingi, D., Sachweh, J. S., Stute, F. & Olfe, J., 05.07.2023, In: ORPHANET J RARE DIS. 18, 1, p. 178

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  24. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., de Vries, B. B. A., van Jaarsveld, R. H., Hopman, S. M. J., van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, B., Deb, W., Schmanski, A. A., Abdul-Rahman, O., Philippe, C., Bruel, A-L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Di Cara, F., Genomics England Research Consortium, Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M. & Kleefstra, T., 01.06.2023, In: AM J HUM GENET. 110, 6, p. 963-978 16 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  25. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

    Kolvenbach, C. M., Zheng, B., Merz, L. M., Mertens, N. D., Mansour, B., Wang, C., Seltzsam, S., Schneider, S., Schierbaum, L., Pantel, D., Chen, J., van der Ven, A. T., Bello, J. O., Shril, S. & Hildebrandt, F., 05.2023, In: AM J MED GENET A. 191, 5, p. 1355-1359 5 p.

    Research output: SCORING: Contribution to journalCase reportResearchpeer-review

  26. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

    Patterson, V., Ullah, F., Bryant, L., Griffin, J. N., Sidhu, A., Saliganan, S., Blaile, M., Saenz, M. S., Smith, R., Ellingwood, S., Grange, D. K., Hu, X., Mireguli, M., Luo, Y., Shen, Y., Mulhern, M., Zackai, E., Ritter, A., Izumi, K., Hoefele, J., Wagner, M., Riedhammer, K. M., Seitz, B., Robin, N. H., Goodloe, D., Mignot, C., Keren, B., Cox, H., Jarvis, J., Hempel, M., Gibson, C. F., Tran Mau-Them, F., Vitobello, A., Bruel, A-L., Sorlin, A., Mehta, S., Raymond, F. L., Gilmore, K., Powell, B. C., Weck, K., Li, C., Vulto-van Silfhout, A. T., Giacomini, T., Mancardi, M. M., Accogli, A., Salpietro, V., Zara, F., Vora, N. L., Davis, E. E., Burdine, R. & Bhoj, E., 28.04.2023, In: SCI ADV. 9, 17, p. eade0631

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  27. Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study

    Mund, M., Uhlenbusch, N., Rillig, F., Weiler-Normann, C., Herget, T., Kubisch, C., Löwe, B. & Schramm, C., 14.04.2023, In: ORPHANET J RARE DIS. 18, 1, p. 82 82.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  28. INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

    Hecher, L., Harms, F. L., Lisfeld, J., Alawi, M., Denecke, J. & Kutsche, K., 04.2023, In: NEUROGENETICS. 24, 2, p. 79-93 15 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  29. Relationship of serum beta-synuclein with blood biomarkers and brain atrophy

    Oeckl, P., Anderl-Straub, S., Danek, A., Diehl-Schmid, J., Fassbender, K., Fliessbach, K., Halbgebauer, S., Huppertz, H-J., Jahn, H., Kassubek, J., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Prudlo, J., Schneider, A., Schroeter, M. L., Steinacker, P., Volk, A. E., Wagner, M., Winkelmann, J., Wiltfang, J., Ludolph, A. C., Otto, M. & FTLD consortium, 04.2023, In: ALZHEIMERS DEMENT. 19, 4, p. 1358-1371 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  30. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

    Aerden, M., Denommé-Pichon, A-S., Bonneau, D., Bruel, A-L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Tran Mau-Them, F., Viora-Dupont, É., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P-Y., Julia, S., Philippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., van Haelst, M., Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F-G., Bramswig, N. C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Tørring, P. M., Renieri, A., Bruno, L. P., Õunap, K., Wojcik, M., Hsieh, T-C., Krawitz, P. & Van Esch, H., 04.2023, In: EUR J HUM GENET. 31, 4, p. 461-468 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  31. A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2

    Chepurwar, S., von Loh, S. M., Wigger, D. C., Neef, J., Frommolt, P., Beutner, D., Lang-Roth, R., Kubisch, C., Strenzke, N. & Volk, A. E., 20.03.2023, In: HUM MOL GENET. 32, 7, p. 1083-1089 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  32. Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

    Khazaei, S., Chen, C. C. L., Andrade, A. F., Kabir, N., Azarafshar, P., Morcos, S. M., França, J. A., Lopes, M., Lund, P. J., Danieau, G., Worme, S., Adnani, L., Nzirorera, N., Chen, X., Yogarajah, G., Russo, C., Zeinieh, M., Wong, C. J., Bryant, L., Hébert, S., Tong, B., Sihota, T. S., Faury, D., Puligandla, E., Jawhar, W., Sandy, V., Cowan, M., Nakada, E. M., Jerome-Majewska, L. A., Ellezam, B., Gomes, C. C., Denecke, J., Lessel, D., McDonald, M. T., Pizoli, C. E., Taylor, K., Cocanougher, B. T., Bhoj, E. J., Gingras, A-C., Garcia, B. A., Lu, C., Campos, E. I., Kleinman, C. L., Garzia, L. & Jabado, N., 16.03.2023, In: CELL. 186, 6, p. 1162-1178.e20

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  33. Nachweis einer hereditären hämorrhagischen Teleangiektasie (Morbus Osler) bei singulärer pulmonaler arteriovenöser Malformation

    Schick-Bengardt, X., Kachanov, M., Bannas, P., Galow, S., Klose, H., Woitschach, R., Schönnagel, B. & Oqueka, T., 09.03.2023, In: PNEUMOLOGIE. 77, Suppl 01, p. S33 Po 168.

    Research output: SCORING: Contribution to journalConference abstract in journalResearchpeer-review

  34. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

    Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M., Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 06.03.2023, In: HUM MOL GENET. 32, 6, p. 917-933 17 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  35. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

    Abdelrazek, I. M., Holling, T., Harms, F. L., Alawi, M., Omar, T., Abdalla, E. & Kutsche, K., 03.2023, In: EUR J MED GENET. 66, 3, p. 104715

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  36. Targeted Multiparametric Magnetic Resonance Imaging/Ultrasound Fusion Biopsy for Quantitative Gleason 4 Grading Prediction in Radical Prostatectomy Specimens: Implications for Active Surveillance Candidate Selection

    Kachanov, M., Budäus, L., Beyersdorff, D., Karakiewicz, P. I., Tian, Z., Falkenbach, F., Tilki, D., Maurer, T., Sauter, G., Graefen, M. & Leyh-Bannurah, S-R., 03.2023, In: EUR UROL FOCUS. 9, 2, p. 303-308 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  37. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

    Klämbt, V., Buerger, F., Wang, C., Naert, T., Richter, K., Nauth, T., Weiss, A-C., Sieckmann, T., Lai, E., Connaughton, D., Seltzsam, S., Mann, N., Majmundar, A., Wu, C-H., Onuchic-Whitford, A., Shril, S., Schneider, S., Schierbaum, L., Dai, R., Bekheirnia, M. R., Joosten, M., Shlomovitz, O., Vivante, A., Banne, E., Mane, S., Lifton, R. P., Kirschner, K., Kispert, A., Rosenberger, G., Fischer, K-D., Lienkamp, S., Zegers, M. & Hildebrandt, F., 01.02.2023, In: J AM SOC NEPHROL. 34, 2, p. 273-290 18 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  38. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

    Mensah, M. A., Niskanen, H., Magalhaes, A. P., Basu, S., Kircher, M., Sczakiel, H. L., Reiter, A. M. V., Elsner, J., Meinecke, P., Biskup, S., Chung, B. H. Y., Dombrowsky, G., Eckmann-Scholz, C., Hitz, M. P., Hoischen, A., Holterhus, P-M., Hülsemann, W., Kahrizi, K., Kalscheuer, V. M., Kan, A., Krumbiegel, M., Kurth, I., Leubner, J., Longardt, A. C., Moritz, J. D., Najmabadi, H., Skipalova, K., Snijders Blok, L., Tzschach, A., Wiedersberg, E., Zenker, M., Garcia-Cabau, C., Buschow, R., Salvatella, X., Kraushar, M. L., Mundlos, S., Caliebe, A., Spielmann, M., Horn, D. & Hnisz, D., 02.2023, In: NATURE. 614, 7948, p. 564-571 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  39. Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes

    Nauth, T., Bazgir, F., Voß, H., Brandenstein, L. I., Mosaddeghzadeh, N., Rickassel, V., Deden, S., Gorzelanny, C., Schlüter, H., Ahmadian, M. R. & Rosenberger, G., 06.01.2023, In: HUM MOL GENET. 32, 2, p. 304-318 15 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  40. Klimawandel und Kindergesundheit – Ein Aufruf zum Handeln: Statement des Netzwerks #gemeinsamstarkfürkinder

    Lorenz, S., Krey, I., Harms, F., Freiseis, A., Schmid, F., Pokora, R., Stamos, K., Kohlfürst, D. & Albertowski, A. S., 01.2023, In: MONATSSCHR KINDERH. 171, p. 63–71 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearch

  41. Biochemie hoch2: und Molekularbiologie 2. Auflage

    Hampe, W., Fluhrer, R., Kouz, K., Averbeck, B., Dankwardt, A., Duszenko, M., Eberharter, A., Harter, C., Höppner, S., Kindler, S., Korber, P., Kreienkamp, H-J., Neumann, S., Nielsen, P., Salat, D., Schling, P., Unterleitner, C. & Wild-Bode, C., 2023, 2 ed.

    Research output: Book/anthologyOther bookResearchpeer-review

  42. The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

    Park, J. H., Nordström, U., Tsiakas, K., Keskin, I., Elpers, C., Mannil, M., Heller, R., Nolan, M., Alburaiky, S., Zetterström, P., Hempel, M., Schara-Schmidt, U., Biskup, S., Steinacker, P., Otto, M., Weishaupt, J., Hahn, A., Santer, R., Marquardt, T., Marklund, S. L. & Andersen, P. M., 2023, In: BRAIN COMMUN. 5, 1, p. fcad017

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  43. 2022
  44. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study

    Rosenbohm, A., Pott, H., Thomsen, M., Rafehi, H., Kaya, S., Szymczak, S., Volk, A. E., Mueller, K., Silveira, I., Weishaupt, J. H., Tönnies, H., Seibler, P., Zschiedrich, K., Schaake, S., Westenberger, A., Zühlke, C., Depienne, C., Trinh, J., Ludolph, A. C., Klein, C., Bahlo, M. & Lohmann, K., 12.2022, In: MOVEMENT DISORD. 37, 12, p. 2427-2439 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  45. Oncologic impact of concomitant prostate cancer characteristics at the time of radical cystoprostatectomy for bladder cancer: a population-based analysis

    Kachanov, M., Vetterlein, M. W., Soave, A., Karakiewicz, P. I., Liakos, N., Jankowski, T., Pose, R. M., Mandrek, M., Fisch, M., Witt, J. H., Graefen, M. & Leyh-Bannurah, S-R., 12.2022, In: AGING MALE. 25, 1, p. 54-61 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  46. Precision-Guidance vs. Systematic Sampling: Optimizing Biopsy Assessment of Secondary Prostate Cancer Suspicious mpMRI Lesions

    Rachubinski, P., Witt, J. H., Budäus, L., Zinke, J., Fangmeyer, B., Spieker, T., Vetterlein, M., Rahbar, K., Kachanov, M. & Leyh-Bannurah, S-R., 12.2022, In: J UROLOGY. 208, 6, p. 1203-1213 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  47. Reply by Authors

    Rachubinski, P., Witt, J. H., Budäus, L., Zinke, J., Fangmeyer, B., Spieker, T., Vetterlein, M., Rahbar, K., Kachanov, M. & Leyh-Bannurah, S-R., 12.2022, In: J UROLOGY. 208, 6, p. 1213

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  48. Suitability of conventional systematic vs. MRI-guided targeted biopsy approaches to assess surgical treatment delay for radical prostatectomy

    Kachanov, M., Budäus, L., Witt, J. H., Wagner, C., Zinke, J., Fangmeyer, B., Schütte, A., Spieker, T., Beyersdorff, D., Graefen, M., Rachubinski, P. & Leyh-Bannurah, S-R., 12.2022, In: WORLD J UROL. 40, 12, p. 2955-2961 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  49. Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome

    van der Laan, L., Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M. A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M. L., Vissers, L. E. L. M., Koene, S., Ruivenkamp, C., Hoffer, M. J. V., Wieczorek, D., Bramswig, N. C., Herget, T., González, V. L., Santos-Simarro, F., Tørring, P. M., Denomme-Pichon, A-S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P-Y., Misra-Isrie, M., Van Esch, H., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 08.11.2022, In: INT J MOL SCI. 23, 22, 13664.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  50. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    Mackay, D., Bliek, J., Kagami, M., Tenorio-Castano, J., Pereda, A., Brioude, F., Netchine, I., Papingi, D., de Franco, E., Lever, M., Sillibourne, J., Lombardi, P., Gaston, V., Tauber, M., Diene, G., Bieth, E., Fernandez, L., Nevado, J., Tümer, Z., Riccio, A., Maher, E. R., Beygo, J., Tannorella, P., Russo, S., de Nanclares, G. P., Temple, I. K., Ogata, T., Lapunzina, P. & Eggermann, T., 07.11.2022, In: CLIN EPIGENETICS. 14, 1, 143.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

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