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CLIN GENET - Clinical genetics

Bibliographical data

ISSNs0009-9163
Electronic ISSN 1399-0004

Publications

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M., Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., 05.2022, In: CLIN GENET. 102, 2, p. 98-109 12 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Brunet, T., Jech, R., Brugger, M., Kovacs, R., Alhaddad, B., Leszinski, G., Riedhammer, K. M., Westphal, D. S., Mahle, I., Mayerhanser, K., Skorvanek, M., Weber, S., Graf, E., Berutti, R., Necpál, J., Havránková, P., Pavelekova, P., Hempel, M., Kotzaeridou, U., Hoffmann, G. F., Leiz, S., Makowski, C., Roser, T., Schroeder, S. A., Steinfeld, R., Strobl-Wildemann, G., Hoefele, J., Borggraefe, I., Distelmaier, F., Strom, T. M., Winkelmann, J., Meitinger, T., Zech, M. & Wagner, M., 07.2021, In: CLIN GENET. 100, 1, p. 14-28 15 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5
Eggermann, T., Kraft, F., Kloth, K., Klopocki, E., Hüning, I., Hempel, M. & Kunstmann, E., 10.2020, In: CLIN GENET. 98, 4, p. 418-419 2 p.

Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

Diagnostic strategy for females suspected of Fabry disease
Balendran, S., Oliva, P., Sansen, S., Mechtler, T. P., Streubel, B., Cobos, P. N., Lukacs, Z. & Kasper, D. C., 04.2020, In: CLIN GENET. 97, 4, p. 655-660 6 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
Bauwens, M., Storch, S., Weisschuh, N., Ceuterick-de Groote, C., De Rycke, R., Brecht, G., Sarah, D. J., Coppieters, F., Van Coster, R., Leroy, B. P. & De Baere, E., 03.2020, In: CLIN GENET. 97, 3, p. 426-436 11 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3
Kühnisch, J., Herbst, C., Al-Wakeel-Marquard, N., Dartsch, J., Holtgrewe, M., Baban, A., Mearini, G., Hardt, J., Kolokotronis, K., Gerull, B., Carrier, L., Beule, D., Schubert, S., Messroghli, D., Degener, F., Berger, F. & Klaassen, S., 12.2019, In: CLIN GENET. 96, 6, p. 549-559 11 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
Kloth, K., Renner, S., Burmester, G., Steinemann, D., Pabst, B., Lorenz, B., Simon, R., Kolbe, V., Hempel, M. & Rosenberger, G., 07.2019, In: CLIN GENET. 96, 1, p. 85-90 6 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

p.D313Y is more than just a polymorphism in Fabry disease
du Moulin, M. & Muschol, N., 06.2018, In: CLIN GENET. 93, 6, p. 1258

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The mutation p.D313Y is associated with organ manifestation in Fabry disease
du Moulin, M., Koehn, A. F., Golsari, A., Dulz, S., Atiskova, Y., Patten, M., Münch, J., Avanesov, M., Ullrich, K. & Muschol, N., 11.2017, In: CLIN GENET. 92, 5, p. 528-533 6 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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