Institute of Human Genetics
Publications
- 2024
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 journal › SCORING: Journal article › Research › peer-review
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. 182Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
Multimodal characterization of dilated cardiomyopathy: Geno- And Phenotyping of PrImary Cardiomyopathy (GrAPHIC)
Keil, L., Berisha, F., Ritter, S., Skibowski, J., Subramanian, H., Nikolaev, V. O., Kubisch, C., Woitschach, R., Fabritz, L., Twerenbold, R., Blankenberg, S., Weidemann, S., Zeller, T., Kirchhof, P., Reichart, D. & Magnussen, C., 02.2024, In: ESC HEART FAIL. 11, 1, p. 541-549 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 45Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2023
Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
Wagner, J. N., Al-Bazaz, M., Forstreuter, A., Hammada, M. I., Hille, J., Papingi, D., Bokemeyer, C. & Fiedler, W., 27.12.2023, In: BIOMEDICINES. 12, 1, 64.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › Comment/debate › Research
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 journal › SCORING: Journal article › Research › peer-review
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. 107675Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 100927Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 100885Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 178Research output: SCORING: Contribution to journal › SCORING: Review article › Research
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
Harms, F. L., Weiss, D., Lisfeld, J., Alawi, M. & Kutsche, K., 07.2023, In: NEUROGENETICS. 24, 3, p. 171-180 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › Case report › Research › peer-review
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. eade0631Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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.e20Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › Conference abstract in journal › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 104715Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research
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/anthology › Other book › Research › peer-review
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. fcad017Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2022
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 1213Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review