PD Dr. med. ID: 44725
Jonas Denecke
Publications
- 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
- 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
- 2015
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
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
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
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
- 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
- 2017
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
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
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
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
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
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
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
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
- 2018
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
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
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
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
- 2019
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
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
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 07.2019, In: ACTA NEUROPATHOL. 138, 1, p. 147-161 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus
Himmelreich, N., Dimitrov, B., Geiger, V., Zielonka, M., Hutter, A-M., Beedgen, L., Hüllen, A., Breuer, M., Peters, V., Thiemann, K-C., Hoffmann, G. F., Sinning, I., Dupré, T., Vuillaumier-Barrot, S., Barrey, C., Denecke, J., Kölfen, W., Düker, G., Ganschow, R., Lentze, M. J., Moore, S., Seta, N., Ziegler, A. & Thiel, C., 07.2019, In: HUM MUTAT. 40, 7, p. 938-951 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Correction to Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 10.2019, In: ACTA NEUROPATHOL. 138, 4, p. 673-674 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., Merkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., 12.2019, In: NEUROL-GENET. 5, 6, p. e373Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
Johannsen, J., Bierhals, T., Deindl, P., Hecher, L., Hermann, K., Hempel, M., Kloth, K. & Denecke, J., 12.2019, In: J PEDIATR GENET. 8, 4, p. 222-225 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Mak, C. C. Y., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., Dimartino, C., Weisfeld-Adams, J. D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y. A., Ehmke, N., Horn, D., Troyer, C., Kant, S. G., Lee, Y., Ishak, G. E., Leung, G., Barone Pritchard, A., Yang, S., Bend, E. G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M. G., Martin, P-M., Apple, B., Millan, F., Puk, O., Hoffer, M. J. V., Henderson, L. B., McGowan, R., Wentzensen, I. M., Pei, S., Zahir, F. R., Yu, M., Gibson, W. T., Seman, A., Steeves, M., Murrell, J. R., Luettgen, S., Francisco, E., Strom, T. M., Amlie-Wolf, L., Kaindl, A. M., Wilson, W. G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L. E. L. M., Radtke, K., Chelly, J., Zackai, E., Friedman, J. M., Bamshad, M. J., Nickerson, D. A., University of Washington Center for Mendelian Genomics, Reid, R. R., Devriendt, K., Chae, J-H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T. Y., Orenstein, N., Dobyns, W. B., Shieh, J. T., Choi, M., Waggoner, D., Gripp, K. W., Parker, M. J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T. L., Amiel, J., Chung, B. H. Y. & Gordon, C. T., 01.01.2020, In: BRAIN. 143, 1, p. 55-68 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F-G., De Giorgis, V., Denecke, J., Doummar, D., Drake Af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M-C., Oppermann, I., Pérez-Dueñas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S. & Crow, Y. J., 04.2020, In: HUM MUTAT. 41, 4, p. 837-849 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser, I. C., Becker, J., Cremer, K., Hundertmark, H., Yates, L. M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K. U., Zink, A. M., Lessel, D., Bierhals, T., Herget, T., Johannsen, J., Denecke, J., Wohlleber, E., Strom, T. M., Wieczorek, D., Bertoli, M., Colombo, R., Hempel, M. & Engels, H., 05.2020, In: AM J MED GENET A. 182, 5, p. 1021-1031 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?
Johannsen, J., Fuhrmann, L., Grolle, B., Morgenstern, L., Wiegand-Grefe, S. & Denecke, J., 09.07.2020, In: HEALTH QUAL LIFE OUT. 18, 1, p. 219Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 10.2020, In: EUR J HUM GENET. 28, 10, p. 1422-1431 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Germline AGO2 mutations impair RNA interference and human neurological development
Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16.11.2020, In: NAT COMMUN. 11, 1, p. 5797Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design
Boettcher, J., Filter, B., Denecke, J., Hot, A., Daubmann, A., Zapf, A., Wegscheider, K., Zeidler, J., von der Schulenburg, J-M. G., Bullinger, M., Rassenhofer, M., Schulte-Markwort, M. & Wiegand-Grefe, S., 20.11.2020, In: BMC FAM PRACT. 21, 1, 239.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Bryant, L., Cox, S. G., Marchione, D., Joiner, E. F., Wilson, K., Janssen, K., Lee, P., March, M. E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K. J., Wadley, A., Mancini, G. M. S., Powell-Hamilton, N., van de Kamp, J., Grebe, T., Dean, J., Ross, A., Crawford, H. P., Powis, Z., Cho, M. T., Willing, M. C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C. B., Retterer, K., Schuette, J. L., Innis, J. W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T. M., Monaghan, K. G., Yuan, Z-F., Dubbs, H., Bend, R., Lee, J. A., Lyons, M. J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K. L., Odent, S., Cogne, B., Mercier, S., Bezieau, S., Besnard, T., Kury, S., Redon, R., Reinson, K., Wojcik, M. H., Õunap, K., Ilves, P., Innes, A. M., Kernohan, K. D., Costain, G., Meyn, M. S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., Martin, M. G., Martinez-Agosto, J. A., Nelson, S. F., Palmer, C. G. S., Papp, J. C., Parker, N. H., Sinsheimer, J. S., Vilain, E., Wan, J., Yoon, A. J., Zheng, A., Brimble, E., Ferrero, G. B., Radio, F. C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J. M., Umana, L., Weiss, M. M., Gotway, G., Stuurman, K. E., Thompson, M. L., McWalter, K., Stumpel, C. T. R. M., Stevens, S. J. C., Stegmann, A. P. A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L. W., Larsen, M. J., Byler, M., Lebel, R. R., Hurst, A. C., Dean, J., Schrier Vergano, S. A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M. I., Longo, N., Sellars, E., Louie, R. J., Cathey, S. S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J. G., Chung, W., Garcia, B., Hakonarson, H. H., Bhoj, E. J. & DDD Study, 12.2020, In: SCI ADV. 6, 49Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation
Hecher, L., Johannsen, J., Bierhals, T., Buhk, J-H., Hempel, M. & Denecke, J., 12.2020, In: NEUROPEDIATRICS. 51, 6, p. 435-439 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation
Boettcher, J., Denecke, J., Barkmann, C. & Wiegand-Grefe, S., 02.12.2020, In: INT J ENV RES PUB HE. 17, 23, 8975.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration
Polovitskaya, M. M., Barbini, C., Martinelli, D., Harms, F. L., Cole, F. S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D. J., Kutsche, K., Tartaglia, M. & Jentsch, T. J., 03.12.2020, In: AM J HUM GENET. 107, 6, p. 1062-1077 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2021
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Ammer, L. S., Pohl, S., Breyer, S. R., Aries, C., Denecke, J., Perez, A., Petzoldt, M., Schrum, J., Müller, I. & Muschol, N. M., 03.2021, In: MOL GENET METAB REP. 26, 100704.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Bley, A., Denecke, J., Kohlschütter, A., Schön, G., Hischke, S., Guder, P., Bierhals, T., Lau, H., Hempel, M. & Eichler, F. S., 19.05.2021, In: ORPHANET J RARE DIS. 16, 1, p. 227Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J., Escobar, L. F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H-J. & Lessel, D., 21.05.2021, In: GENOME MED. 13, 1, p. 90Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center
Johannsen, J., Weiss, D., Schlenker, F., Groth, M. & Denecke, J., 06.2021, In: NEUROPEDIATRICS. 52, 3, p. 179-185 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Cappuccio, G., Brunetti-Pierri, N., Kortüm, F., Hempel, M., Denecke, J., Lehman, A., CAUSES Study, Kleefstra, T., Stuurman, K. E., Wilke, M., Thompson, M. L., Bebin, E. M., Bijlsma, E. K., Hoffer, M. J. V., Peeters-Scholte, C., Slavotinek, A., Weiss, W. A., Yip, T., Hodoglugil, U., Whittle, A., diMonda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernández-Jaen, A., Pelayo, J. P., Klöckner, C., Kamphausen, S. B., Abou Jamra, R., Arelin, M., Innes, A. M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., de Burca, A., Kini, U., Delatycki, M. B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B. J., Robertson, S. P., Lyonnet, S., Amiel, J. & Gordon, C. T., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1138-1150 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Goodman, S. J., Siu, M. T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., de Vries, B. B. A., Deden, A. C., Leenders, E., Kwint, M., Stumpel, C. T. R. M., Stevens, S. J. C., Vermeulen, J. R., van Harssel, J. V. T., Bosch, D. G. M., van Gassen, K. L. I., van Binsbergen, E., de Geus, C. M., Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I. M., Yang, H., Zou, F., Millan, F., Person, R., Xie, Y., Liu, S., Ousager, L. B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Schmidt, B., Wilson, W. G., Õunap, K., Reinson, K., Pajusalu, S., van Haeringen, A., Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Míguez, M., Ritter, A., Bhoj, E., Tønne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M. J. M., Cohn, R. D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S. W., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Koolen, D. A. & Weksberg, R., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1053-1068 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
Schwering, C., Kammler, G., Wibbeler, E., Christner, M., Knobloch, J. K-M., Nickel, M., Denecke, J., Baehr, M. & Schulz, A., 07.2021, In: J CHILD NEUROL. 36, 8, p. 635-641 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review