Dr.med. ID: 1446008

Davor Lessel

graph of relations

Publications

  1. 2019
  2. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In : DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  3. Shared heritability and functional enrichment across six solid cancers

    Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y-C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K-T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H-J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H-E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., 25.01.2019, In : NAT COMMUN. 10, 1, p. 431

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  4. A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

    Tunc, S., Denecke, J., Olschewski, L., Bäumer, T., Münchau, A., Lessel, D. & Lohmann, K., 15.01.2019, In : J NEUROL SCI. 396, p. 199-201 3 p.

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

  5. Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study

    Adams, C., Richmond, R. C., Santos Ferreira, D. L., Spiller, W., Tan, V. Y., Zheng, J., Wurtz, P., Donovan, J. L., Hamdy, F. C., Neal, D. E., Lane, J. A., Davey Smith, G., Relton, C. L., Eeles, R. A., Henderson, B. E., Haiman, C. A., Kote-Jarai, Z., Schumacher, F. R., Amin Al Olama, A., Benlloch, S., Muir, K., Berndt, S. I., Conti, D. V., Wiklund, F., Chanock, S. J., Gapstur, S. M., Stevens, V. L., Tangen, C. M., Batra, J., Clements, J. A., Grönberg, H., Pashayan, N., Schleutker, J., Albanes, D., Wolk, A., West, C. M. L., Mucci, L. A., Cancel-Tassin, G., Koutros, S., Sørensen, K. D., Maehle, L., Travis, R. C., Hamilton, R., Ingles, S. A., Rosenstein, B. S., Lu, Y-J., Giles, G. G., Kibel, A. S., Vega, A., Kogevinas, M., Penney, K. L., Park, J. Y., Stanford, J. L., Cybulski, C., Nordestgaard, B. G., Brenner, H., Maier, C., Kim, J., John, E. M., Teixeira, M. R., Neuhausen, S. L., DeRuyck, K., Razack, A., Newcomb, L. F., Lessel, D., Kaneva, R. P., Usmani, N., Claessens, F., Townsend, P., Gago Dominguez, M., Roobol, M. J., Menegaux, F., Khaw, K-T., Cannon-Albright, L. A., Pandha, H., Thibodeau, S. N. & Martin, R. M., 01.2019, In : CANCER EPIDEM BIOMAR.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  6. 2018
  7. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

    Lessel, D., Ozel, A. B., Campbell, S. E., Saadi, A., Arlt, M. F., McSweeney, K. M., Plaiasu, V., Szakszon, K., Szőllős, A., Rusu, C., Rojas, A. J., Lopez-Valdez, J., Thiele, H., Nürnberg, P., Nickerson, D. A., Bamshad, M. J., Li, J. Z., Kubisch, C., Glover, T. W. & Gordon, L. B., 12.2018, In : HUM GENET. 137, 11-12, p. 921-939

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  8. Germline variation at 8q24 and prostate cancer risk in men of European ancestry

    Matejcic, M., Saunders, E. J., Dadaev, T., Brook, M. N., Wang, K., Sheng, X., Olama, A. A. A., Schumacher, F. R., Ingles, S. A., Govindasami, K., Benlloch, S., Berndt, S. I., Albanes, D., Koutros, S., Muir, K., Stevens, V. L., Gapstur, S. M., Tangen, C. M., Batra, J., Clements, J., Gronberg, H., Pashayan, N., Schleutker, J., Wolk, A., West, C., Mucci, L., Kraft, P., Cancel-Tassin, G., Sorensen, K. D., Maehle, L., Grindedal, E. M., Strom, S. S., Neal, D. E., Hamdy, F. C., Donovan, J. L., Travis, R. C., Hamilton, R. J., Rosenstein, B., Lu, Y-J., Giles, G. G., Kibel, A. S., Vega, A., Bensen, J. T., Kogevinas, M., Penney, K. L., Park, J. Y., Stanford, J. L., Cybulski, C., Nordestgaard, B. G., Brenner, H., Maier, C., Kim, J., Teixeira, M. R., Neuhausen, S. L., De Ruyck, K., Razack, A., Newcomb, L. F., Lessel, D., Kaneva, R., Usmani, N., Claessens, F., Townsend, P. A., Dominguez, M. G., Roobol, M. J., Menegaux, F., Khaw, K-T., Cannon-Albright, L. A., Pandha, H., Thibodeau, S. N., Schaid, D. J., Wiklund, F., Chanock, S. J., Easton, D. F., Eeles, R. A., Kote-Jarai, Z., Conti, D. V., Haiman, C. A. & PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, 05.11.2018, In : NAT COMMUN. 9, 1, p. 4616

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  9. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

    Sargolzaeiaval, F., Zhang, J., Schleit, J., Lessel, D., Kubisch, C., Precioso, D. R., Sillence, D., Hisama, F. M., Dorschner, M., Martin, G. M. & Oshima, J., 11.2018, In : Mol Genet Genomic Med. 6, 6, p. 1148-1156

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  10. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Harms, F. L., Kloth, K., Bley, A., Denecke, J., Santer, R., Lessel, D., Hempel, M. & Kutsche, K., 04.10.2018, In : AM J HUM GENET. 103, 4, p. 579-591 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  11. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    Lessel, D., Gehbauer, C., Bramswig, N. C., Schluth-Bolard, C., Venkataramanappa, S., van Gassen, K. L. I., Hempel, M., Haack, T. B., Baresic, A., Genetti, C. A., Funari, M. F. A., Lessel, I., Kuhlmann, L., Simon, R., Liu, P., Denecke, J., Kuechler, A., de Kruijff, I., Shoukier, M., Lek, M., Mullen, T., Lüdecke, H-J., Lerario, A. M., Kobbe, R., Krieger, T., Demeer, B., Lebrun, M., Keren, B., Nava, C., Buratti, J., Afenjar, A., Shinawi, M., Guillen Sacoto, M. J., Gauthier, J., Hamdan, F. F., Laberge, A-M., Campeau, P. M., Louie, R. J., Cathey, S. S., Prinz, I., Jorge, A. A. L., Terhal, P. A., Lenhard, B., Wieczorek, D., Strom, T. M., Agrawal, P. B., Britsch, S., Tolosa, E. & Kubisch, C., 01.08.2018, In : BRAIN. 141, 8, p. 2299-2311

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  12. Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

    Profile Study, Australian Prostate Cancer BioResource (APCB), IMPACT Study, Canary PASS Investigators, Breast and Prostate Cancer Cohort Consortium (BPC3), Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome (PRACTICAL Consortium), Cancer of the Prostate in Sweden (CAPS), Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), Genetic Associations and Mechanisms in Oncology Consortium (GAME-ON) & Elucidating Loci Involved in Prostate Cancer Susceptibility Consortium (ELLIPSE), 07.2018, In : NAT GENET. 50, 7, p. 928-936

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  13. Integrated Molecular Characterization of Testicular Germ Cell Tumors

    Shen, H., Shih, J., Hollern, D. P., Wang, L., Bowlby, R., Tickoo, S. K., Thorsson, V., Mungall, A. J., Newton, Y., Hegde, A. M., Armenia, J., Sánchez-Vega, F., Pluta, J., Pyle, L. C., Mehra, R., Reuter, V. E., Godoy, G., Jones, J., Shelley, C. S., Feldman, D. R., Vidal, D. O., Lessel, D., Kulis, T., Cárcano, F. M., Leraas, K. M., Lichtenberg, T. M., Brooks, D., Cherniack, A. D., Cho, J., Heiman, D. I., Kasaian, K., Liu, M., Noble, M. S., Xi, L., Zhang, H., Zhou, W., ZenKlusen, J. C., Hutter, C. M., Felau, I., Zhang, J., Schultz, N., Getz, G., Meyerson, M., Stuart, J. M., Akbani, R., Wheeler, D. A., Laird, P. W., Nathanson, K. L., Cortessis, V. K., Hoadley, K. A. & Cancer Genome Atlas Research Network, 12.06.2018, In : CELL REP. 23, 11, p. 3392-3406 15 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  14. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

    Dadaev, T., Saunders, E. J., Newcombe, P. J., Anokian, E., Leongamornlert, D. A., Brook, M. N., Cieza-Borrella, C., Mijuskovic, M., Wakerell, S., Olama, A. A. A., Schumacher, F. R., Berndt, S. I., Benlloch, S., Ahmed, M., Goh, C., Sheng, X., Zhang, Z., Muir, K., Govindasami, K., Lophatananon, A., Stevens, V. L., Gapstur, S. M., Carter, B. D., Tangen, C. M., Goodman, P., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Hakansson, N., West, C., Dunning, A. M., Burnet, N., Mucci, L., Giovannucci, E., Andriole, G., Cussenot, O., Cancel-Tassin, G., Koutros, S., Freeman, L. E. B., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B., Kerns, S., Ostrer, H., Lu, Y-J., Zhang, H-W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., FitzGerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Fachal, L., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H-Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weisher, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S-H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Slavov, C., Mitev, V., Parliament, M., Singhal, S., Claessens, F., Joniau, S., Van den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K-T., Cannon-Albright, L., Pandha, H., Michael, A., Kierzek, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Kraft, P., Freedman, M., Wiklund, F., Chanock, S., Henderson, B. E., Easton, D. F., Haiman, C. A., Eeles, R. A., Conti, D. V., Kote-Jarai, Z. & PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, 11.06.2018, In : NAT COMMUN. 9, 1, p. 2256

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  15. Recessive mutations in >VPS13D cause childhood-onset movement disorders

    Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., Carecchio, M., Lubbe, S. J., Telegrafi, A., Henderson, L. B., Lorenzo, K., Wallace, S. E., Glass, I. A., Hamdan, F. F., Michaud, J. L., Rouleau, G. A. & Campeau, P. M., 06.2018, In : ANN NEUROL. 83, 6, p. 1089-1095

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  16. 2017
  17. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    Martin, S., Chamberlin, A., Shinde, D. N., Hempel, M., Strom, T. M., Schreiber, A., Johannsen, J., Ousager, L. B., Larsen, M. J., Hansen, L. K., Fatemi, A., Cohen, J. S., Lemke, J., Sørensen, K. P., Helbig, K. L., Lessel, D. & Abou Jamra, R., 07.12.2017, In : AM J HUM GENET. 101, 6, p. 1013-1020 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

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

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

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  19. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

    Said, E., Chong, J. X., Hempel, M., Denecke, J., Soler, P., Strom, T., Nickerson, D. A., Kubisch, C., Bamshad, M. J., Lessel, D. & University of Washington Center for Mendelian Genomics, 11.2017, In : AM J MED GENET A. 173, 11, p. 3098-3103

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  20. Dysfunction of the MDM2/p53 axis is linked to premature aging

    Lessel, D., Wu, D., Trujillo, C., Ramezani, T., Lessel, I., Alwasiyah, M. K., Saha, B., Hisama, F. M., Rading, K., Goebel, I., Schütz, P., Speit, G., Högel, J., Thiele, H., Nürnberg, G., Nürnberg, P., Hammerschmidt, M., Zhu, Y., Tong, D. R., Katz, C., Martin, G. M., Oshima, J., Prives, C. & Kubisch, C., 02.10.2017, In : J CLIN INVEST. 127, 10, p. 3598-3608

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  21. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

    Kloth, K., Denecke, J., Hempel, M., Johannsen, J., Strom, T. M., Kubisch, C. & Lessel, D., 09.2017, In : EUR J MED GENET. 60, 9, p. 494-498

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  22. Phenotypes and genotypes in individuals with SMC1A variants

    Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K. E. M., Elting, M., van Essen, A., Patrick, D. F., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 08.2017, In : AM J MED GENET A. 173, 8, p. 2108-2125

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  23. Lessons learned from additional research analyses of unsolved clinical exome cases

    Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., Wiszniewski, W., Penney, S., Liu, P., Bi, W., Lalani, S. R., Schaaf, C. P., Wangler, M. F., Bacino, C. A., Lewis, R. A., Potocki, L., Graham, B. H., Belmont, J. W., Scaglia, F., Orange, J. S., Jhangiani, S. N., Chiang, T., Doddapaneni, H., Hu, J., Muzny, D. M., Xia, F., Beaudet, A. L., Boerwinkle, E., Eng, C. M., Plon, S. E., Sutton, V. R., Gibbs, R. A., Posey, J. E., Yang, Y. & Lupski, J. R., 21.03.2017, In : Genome medicine. 9, 1, p. 26

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  24. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

    Hempel, M., Casar Tena, T., Diehl, T., Burczyk, M. S., Strom, T. M., Kubisch, C., Philipp, M. & Lessel, D., 03.2017, In : HUM GENET. 136, 3, p. 339-346 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  25. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In : AM J HUM GENET. 100, 2, p. 281-296

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  26. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

    Yokote, K., Chanprasert, S., Lee, L., Eirich, K., Takemoto, M., Watanabe, A., Koizumi, N., Lessel, D., Mori, T., Hisama, F. M., Ladd, P. D., Angle, B., Baris, H., Cefle, K., Palanduz, S., Ozturk, S., Chateau, A., Deguchi, K., Easwar, T. K. M., Federico, A., Fox, A., Grebe, T. A., Hay, B., Nampoothiri, S., Seiter, K., Streeten, E., Piña-Aguilar, R. E., Poke, G., Poot, M., Posmyk, R., Martin, G. M., Kubisch, C., Schindler, D. & Oshima, J., 01.2017, In : HUM MUTAT. 38, 1, p. 7-15

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  27. 2016
  28. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, J. A., Sinnema, M., Stumpel, C. T. R. M., Draaisma, J. M., Nicolai, J., Yntema, H. G., Lindstrom, K., de Vries, B. B. A., Jewett, T., Santoro, S. L., Vogt, J., Bachman, K. K., Seeley, A. H., Krokosky, A., Turner, C., Rohena, L., Hempel, M., Kortüm, F., Lessel, D., Neu, A., Strom, T. M., Wieczorek, D., Bramswig, N., Laccone, F. A., Behunova, J., Rehder, H., Gordon, C. T., Rio, M., Romana, S., Tang, S., El-Khechen, D., Cho, M. T., McWalter, K., Douglas, G., Baskin, B., Begtrup, A., Funari, T., Schoch, K., Stegmann, A. P. A., Stevens, S. J. C., Zhang, D-E., Traver, D., Yao, X., MacArthur, D. G., Brunner, H. G., Mancini, G. M. S., Myers, R. M., Owen, L. B., Lim, S-T., Stachura, D. L., Vissers, L. E. L. M., Ahn, E-Y. E., University of Washington Center for Mendelian Genomics & Deciphering Developmental Disorders Study, 01.09.2016, In : AM J HUM GENET. 99, 3, p. 711-9 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  29. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

    Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 2016, In : BMC MED GENET. 17, p. 27

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  30. The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

    Lessel, D., Muhammad, T., Casar Tena, T., Moepps, B., Burkhalter, M. D., Hitz, M-P., Toka, O., Rentzsch, A., Schubert, S., Schalinski, A., Bauer, U. M. M., Kubisch, C., Ware, S. M. & Philipp, M., 2016, In : SCI REP-UK. 6, p. 33231

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  31. 2015
  32. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

    Lessel, D., Hisama, F. M., Szakszon, K., Saha, B., Sanjuanelo, A. B., Salbert, B. A., Steele, P. D., Baldwin, J., Brown, W. T., Piussan, C., Plauchu, H., Szilvássy, J., Horkay, E., Högel, J., Martin, G. M., Herr, A. J., Oshima, J. & Kubisch, C., 11.2015, In : HUM MUTAT. 36, 11, p. 1070-9 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  33. Suppressor of cytokine signaling 1 gene mutation status as a prognostic biomarker in classical Hodgkin lymphoma

    Lennerz, J. K., Hoffmann, K., Bubolz, A-M., Lessel, D., Welke, C., Rüther, N., Viardot, A. & Möller, P., 06.10.2015, In : ONCOTARGET. 6, 30, p. 29097-110 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  34. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    Hempel, M., Cremer, K., Ockeloen, C. W., Lichtenbelt, K. D., Herkert, J. C., Denecke, J., Haack, T. B., Zink, A. M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T. M., van Gassen, K. L. I., Kleefstra, T., Kubisch, C., Engels, H. & Lessel, D., 03.09.2015, In : AM J HUM GENET. 97, 3, p. 493-500 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  35. 2014
  36. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

    Lessel, D., Vaz, B., Halder, S., Lockhart, P. J., Marinovic-Terzic, I., Lopez-Mosqueda, J., Philipp, M., Sim, J. C. H., Smith, K. R., Oehler, J., Cabrera, E., Freire, R., Pope, K., Nahid, A., Norris, F., Leventer, R. J., Delatycki, M. B., Barbi, G., von Ameln, S., Högel, J., Degoricija, M., Fertig, R., Burkhalter, M. D., Hofmann, K., Thiele, H., Altmüller, J., Nürnberg, G., Nürnberg, P., Bahlo, M., Martin, G. M., Aalfs, C. M., Oshima, J., Terzic, J., Amor, D. J., Dikic, I., Ramadan, K. & Kubisch, C., 01.11.2014, In : NAT GENET. 46, 11, p. 1239-44 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  37. Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier?

    Lessel, D., Saha, B., Hisama, F., Kaymakamzade, B., Nurlu, G., Gursoy-Özdemir, Y., Thiele, H., Nürnberg, P., Martin, G. M., Kubisch, C. & Oshima, J., 01.10.2014, In : AM J MED GENET A. 164A, 10, p. 2510-3 4 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  38. Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits

    Utrobičić, I., Novak, I., Marinović-Terzić, I., Matić, K., Lessel, D., Salamunić, I., Babić, M. S., Kunac, N., Mešin, A. K., Kubisch, C., Maček, B. & Terzić, J., 01.09.2014, In : NEUROSURGERY. 75, 3, p. 276-85

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  39. Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity

    Puumalainen, M-R., Lessel, D., Rüthemann, P., Kaczmarek, N., Bachmann, K., Ramadan, K. & Naegeli, H., 01.01.2014, In : NAT COMMUN. 5, p. 3695

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  40. KIT mutations in primary mediastinal B-cell lymphoma

    Nagel, P. D., Stenzinger, A., Feld, F. M., Herrmann, M. D., Brüderlein, S., Barth, T. F. E., Marienfeld, R., Endris, V., Weichert, W., Debatin, K-M., Westhoff, M-A., Lessel, D., Möller, P. & Lennerz, J. K., 01.01.2014, In : BLOOD CANCER J. 4, 8, p. e241

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