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Research Portal of the TU Dresden

Human Molecular Genetics

ISSNs: 0964-6906

Additional searchable ISSN (electronic): 1460-2083

Oxford University Press, Oxford

Scopus rating (2022): CiteScore 8.9 SJR 1.831 SNIP 1.158

Journal

Titles	Human Molecular Genetics Human molecular genetics
Additional searchable titles	Human molecular genetics, Human molecular genetics., Hum Mol Genet
ISSNs	0964-6906
Additional searchable ISSN (electronic)	1460-2083
Publisher	Oxford University Press, Oxford
ZDB-ID	1108742-0
ZDB-ID	1474816-2

Keywords

ASJC Scopus subject areas

Library keywords

570 Biology
590 Animals

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

Cooley Coleman, J. A., Gass, J. M., Srikanth, S., Pauly, R., Ziats, C. A., Everman, D. B., Skinner, S. A., & 8 othersBell, S., Louie, R. J., Cascio, L., Patterson, W. G., Jones, J. R., Di Donato, N., Stevenson, R. E. & Boccuto, L., 20 Apr 2023, In: Human molecular genetics. 32, 9, p. 1457-1465 9 p.

Research output: Contribution to journal › Research article › Contributed

Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations

Bursch, F., Kalmbach, N., Naujock, M., Staege, S., Eggenschwiler, R., Abo-Rady, M., Japtok, J., & 10 othersGuo, W., Hensel, N., Reinhardt, P., Boeckers, T. M., Cantz, T., Sterneckert, J., Van Den Bosch, L., Hermann, A., Petri, S. & Wegner, F., 1 Sept 2019, In: Human molecular genetics. 28, 17, p. 2835-2850 16 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.

Stickel, F., Buch, S., Zoller, H., Hultcrantz, R., Gallati, S., Österreicher, C., Finkenstedt, A., & 30 othersStadlmayr, A., Aigner, E., Sahinbegovic, E., Sarrazin, C., Schafmayer, C., Braun, F., Erhart, W., Nothnagel, M., Lerch, M. M., Mayerle, J., Völzke, H., Schaller, A., Kratzer, W., Boehm, BO., Sipos, B., D'Amato, M., Torkvist, L., Stal, P., Arlt, A., Franke, A., Becker, T., Krawczak, M., Zwerina, J., Berg, T., Hinrichsen, H., Krones, E., Dejaco, C., Strasser, M., Datz, C. & Hampe, J., 20 Feb 2014, In: Human Molecular Genetics. 23, 14, p. 3883-3890 8 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

Sleigh, J. N., Barreiro-Iglesias, A., Oliver, P. L., Biba, A., Becker, T., Davies, K. E., Becker, C. G., & 1 othersTalbot, K., Feb 2014, In: Human molecular genetics. 23, 4, p. 855-869 15 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Revenkova, E., Focarelli, M. L., Susani, L., Paulis, M., Bassi, M. T., Mannini, L., Frattini, A., & 5 othersDelia, D., Krantz, I., Vezzoni, P., Jessberger, R. & Musio, A., 1 Feb 2009, In: Human Molecular Genetics. 18, 3, p. 418-27 10 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

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