Research ExplorerJournalsHUM MUTAT

HUM MUTAT - Human mutation

Bibliographical data

ISSNs1059-7794
Electronic ISSN 1098-1004

Publications

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Holling, T., Lisfeld, J., Johannsen, J., Matschke, J., Song, F., Altmeppen, H. C. & Kutsche, K., 09.2022, In: HUM MUTAT. 43, 9, p. 1224-1233 10 p.

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

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
Holling, T., Bhavani, G. S., von Elsner, L., Shah, H., Kausthubham, N., Bhattacharyya, S. S., Shukla, A., Mortier, G. R., Schinke, T., Danyukova, T., Pohl, S., Kutsche, K. & Girisha, K. M., 05.2022, In: HUM MUTAT. 43, 5, p. 625-642 18 p.

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

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
Harms, F. L., Parthasarathy, P., Zorndt, D., Alawi, M., Fuchs, S., Halliday, B. J., McKeown, C., Sampaio, H., Radhakrishnan, N., Radhakrishnan, S. K., Gorce, M., Navet, B., Ziegler, A., Sachdev, R., Robertson, S. P., Nampoothiri, S. & Kutsche, K., 09.2020, In: HUM MUTAT. 41, 9, p. 1645-1661 17 p.

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

Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism
Kluwe, L., Friedrich, R. E., Farschtschi, S. C., Hagel, C., Kehrer-Sawatzki, H. & Mautner, V-F., 07.2020, In: HUM MUTAT. 41, 7, p. 1226-1231 6 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

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2
Karsak, M., Glebov, K., Scheffold, M., Bajaj, T., Kawalia, A., Karaca, I., Rading, S., Kornhuber, J., Peters, O., Diez-Fairen, M., Frölich, L., Hüll, M., Wiltfang, J., Scherer, M., Riedel-Heller, S., Schneider, A., Heneka, M. T., Fliessbach, K., Sharaf, A., Thiele, H., Lennarz, M., Jessen, F., Maier, W., Kubisch, C., Ignatova, Z., Nürnberg, P., Pastor, P., Walter, J. & Ramirez, A., 01.2020, In: HUM MUTAT. 41, 1, p. 169-181 13 p.

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

Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
Danyukova, T., Ludwig, N. F., Velho, R. V., Harms, F. L., Güneş, N., Tidow, H., Schwartz, I. V., Tüysüz, B. & Pohl, S., 01.2020, In: HUM MUTAT. 41, 1, p. 133-139 7 p.

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

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Gardner, E., Bailey, M., Schulz, A., Aristorena, M., Miller, N. & Mole, S. E., 11.2019, In: HUM MUTAT. 40, 11, p. 1924-1938 15 p.

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

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
KConFab Investigators, 09.2019, In: HUM MUTAT. 40, 9, p. 1557-1578 22 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

View all (73)