PD Dr. med. ID: 44725
Jonas Denecke
Publications
- 2019
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 journal › SCORING: Journal article › Research › peer-review
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 journal › Other (editorial matter etc.) › Research
- 2018
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 journal › SCORING: Journal article › Research › peer-review
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 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen, J., Kortüm, F., Rosenberger, G., Bokelmann, K., Schirmer, M. A., Denecke, J. & Santer, R., 08.2018, In: NEUROGENETICS. 19, 3, p. 151-156 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann, A., Langer, T., Schorling, D., Stein, S., Vogt, S., Schara, U., Kölbel, H., Schwartz, O., Hahn, A., Giese, K., Johannsen, J., Denecke, J., Weiß, C., Theophil, M. & Kirschner, J., 2018, In: J NEUROMUSCULAR DIS. 5, 2, p. 135-143 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sehstörung und Parästhesien mit seltener Ursache
Guder, P., Johannsen, J., Weiss, D., Lischka, T. & Denecke, J., 2018, In: MONATSSCHR KINDERH.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel, D., Schob, C., Küry, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., DDD Study, Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R. & Kreienkamp, H-J., 02.11.2017, In: AM J HUM GENET. 101, 5, p. 716-724 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 3098-3103Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
Johannsen, J., Hempel, M., Diehl, T., Haack, T. B. & Denecke, J., 10.2017, In: PEDIATR NEONATOL. 58, 5, p. 458-459Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Rolvien, T., Butscheidt, S., Jeschke, A., Neu, A., Denecke, J., Kubisch, C., Meisler, M. H., Püschel, K., Barvencik, F., Yorgan, T., Oheim, R., Schinke, T. & Amling, M., 10.2017, In: BONE. 103, p. 136-143Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 01.09.2017, In: BRAIN. 140, 9, p. 2322-2336 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 494-498Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Management Strategies for CLN2 Disease
Williams, R. E., Adams, H. R., Blohm, M., Cohen-Pfeffer, J. L., de Los Reyes, E., Denecke, J., Drago, K., Fairhurst, C., Frazier, M., Guelbert, N., Kiss, S., Kofler, A., Lawson, J. A., Lehwald, L., Leung, M-A., Mikhaylova, S., Mink, J. W., Nickel, M., Shediac, R., Sims, K., Specchio, N., Topcu, M., von Löbbecke, I., West, A., Zernikow, B. & Schulz, A., 04.2017, In: PEDIATR NEUROL. 69, p. 102-112 11 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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 MED. 9, 1, p. 26Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern
Morgenstern, L., Wagner, M., Denecke, J., Grolle, B., Johannsen, J., Wegscheider, K. & Wiegand-Grefe, S., 2017, In: PRAX KINDERPSYCHOL K. 66, 9, p. 687 -701Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature
Bohnenpoll, J., Eichler, F. S., Schoen, G., Hischke, S., Denecke, J., Hempel, M., Kohlschütter, A. & Bley, A., 2017, In: NEUROPEDIATRICS. 48, S 01, p. 26 26 p.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
- 2016
Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
Johannsen, J., Nickel, M., Schulz, A. & Denecke, J., 06.2016, In: NEUROPEDIATRICS. 47, 3, p. 194-6 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2015
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 journal › SCORING: Journal article › Research › peer-review
Phenotypic and molecular insights into CASK-related disorders in males
Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12.04.2015, In: ORPHANET J RARE DIS. 10, 1, p. 44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Brainstem disconnection: two additional patients and expansion of the phenotype
Poretti, A., Denecke, J., Miller, D. C., Schiffmann, H., Buhk, J. H., Grange, D. K., Doherty, D. & Boltshauser, E., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 139-44 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Chronische Krankheit in der Familie
Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 9. Workshopkongress für Klinische Psychologie und Psychotherapie & 33. Symposium der Fachgruppe Klinische Psychologie und Psychotherapie der DGPs: Wieviel Psychologie steckt in der Psychotherapie? Positionen, Perspektiven, Lösungen .Research output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review
Lebensqualität von chronisch erkrankten Kindern und ihren Familien
Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 22. Kongress des Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke e.V. (DGM).Research output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review
Lebensqualität von langzeitbeatmeten Kindern und ihren Familien
Morgenstern, L., Grolle, B., Johannsen, J., Denecke, J., Bindt, C. & Wiegand-Grefe, S., 2015, 23. Jahreskongress der Deutschen Interdisziplinären Gesellschaft für Außerklinische Beatmung (DIGAB) e.V.. German Medical Science GMS Publishing HouseResearch output: SCORING: Contribution to book/anthology › Conference contribution - Published abstract for conference with selection process › Research › peer-review
- 2014
Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)
Kohlschütter, A., Schulz, A. & Denecke, J., 2014, In: J Pediatr Epilepsy. 3, p. 199-206Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2013
Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique
Denecke, J., 01.01.2013, Haemostasis: Methods and Protocols. 1 ed. Springer, Vol. 992. p. 383-386 4 p. (Methods in Molecular Biology ).Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review