Publikationen Prof. Dr. med. Anita Rauch

ZORA Publikationsliste

Publikationen

• Grether, A., Ivanovski, I., Russo, M., Begemann, A., Steindl, K., Abela, L., Papik, M., Zweier, M., Oneda, B., Joset, P., & Rauch, A. (2023). The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies Molecular Genetics & Genomic Medicine, 11, e2148. https://doi.org/10.1002/mgg3.2148
• Lecca, M., Pehlivan, D., Suñer, D. H., Weiss, K., Coste, T., Zweier, M., Oktay, Y., Danial-Farran, N., Rosti, V., Bonasoni, M. P., Malara, A., Contrò, G., Zuntini, R., Pollazzon, M., Pascarella, R., Neri, A., Fusco, C., Marafi, D., Mitani, T., … et al. (2023). Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage American Journal of Human Genetics, 110, 681–690. https://doi.org/10.1016/j.ajhg.2023.03.005
• Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Da Silva, R. P., Li, D., … et al. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice Science Advances, 9, eade1463. https://doi.org/10.1126/sciadv.ade1463
• Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., et al, Bachmann-Gagescu, R., & Rauch, A. (2023). Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype American Journal of Human Genetics, 110, 215–227. https://doi.org/10.1016/j.ajhg.2022.12.007
• Steffensen, E. H., Skakkebæk, A., Gadsbøll, K., Petersen, O. B., Westover, T., Strange, H., NIPT-SCA-map Study Group, Vogel, I., et al, & Rauch, A. (2023). Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study Prenatal Diagnosis, 43, 144–155. https://doi.org/10.1002/pd.6322
• Snijders Blok, L., Verseput, J., Rots, D., et al, Steindl, K., & Rauch, A. (2023). A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder Human Genetics and Genomics Advances, 4, 100157. https://doi.org/10.1016/j.xhgg.2022.100157
• Kraemer, D., Terumalai, D., Famiglietti, M. L., Filges, I., Joset, P., Koller, S., Maurer, F., Meier, S., Nouspikel, T., Sanz, J., Zweier, C., Abramowicz, M., Berger, W., Cichon, S., Schaller, A., Superti-Furga, A., Barbié, V., & Rauch, A. (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland (No. 22283790; MedRxiv). https://doi.org/10.1101/2023.01.11.22283790
• Rieger, M., Moutton, S., Verheyen, S., Steindl, K., Popp, B., Leheup, B., Bonnet, C., Oneda, B., Rauch, A., Reis, A., Krumbiegel, M., & Hüffmeier, U. (2023). Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay European Journal of Medical Genetics, 66, 104669. https://doi.org/10.1016/j.ejmg.2022.104669
• Cali, E., Suri, M., Scala, M., et al, Steindl, K., Herenger, Y., & Rauch, A. (2023). Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities Genetics in Medicine, 25, 135–142. https://doi.org/10.1016/j.gim.2022.09.016
• Filges, I., Cichon, S., Nouspikel, T., Porret, N. A., Rauch, A., & Unger, S. (2022). Genetische Beratung: Konzepte, Missverständnisse, Perspektiven Schweizerische Ärztezeitung (SÄZ), 103, 34–36. https://doi.org/10.4414/saez.2022.21273
• Begemann, A., Oneda, B., Baumer Wolz, A., Guldimann, M., Tutschek, B., & Rauch, A. (2022). A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers European Journal of Medical Genetics, 65, 104628. https://doi.org/10.1016/j.ejmg.2022.104628
• Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L., et al, & Rauch, A. (2022). PhenoScore: AI-based phenomics to quantify rare disease and genetic variation (No. 22281480; MedRxiv). https://doi.org/10.1101/2022.10.24.22281480
• van Woerden, G. M., Senden, R., de Konink, C., Trezza, R. A., Baban, A., Bassetti, J. A., van Bever, Y., Bird, L. M., van Bon, B. W., Brooks, A. S., Guan, Q., Klee, E. W., Marcelis, C., Rosado, J. M., Schimmenti, L. A., Shikany, A. R., Terhal, P. A., Nicole Weaver, K., Wessels, M. W., … Demirdas, S. (2022). The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations Human Mutation, 43, 1377–1395. https://doi.org/10.1002/humu.24425
• Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., et al, Bachmann-Gagescu, R., & Rauch, A. (2022). Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype (No. 22279724; MedRxiv). https://doi.org/10.1101/2022.09.29.22279724
• Redaktion SÄZ, & Rauch, A. (2022). News der Woche : Gentests für Eltern. Schweizerische Ärztezeitung (SÄZ), 103, 10. https://doi.org/10.4414/saez.2022.21048
• Rauch, A. (2022). Vaccin contre la variole du singe Schweizerische Ärztezeitung (SÄZ), 8–11. https://doi.org/10.4414/bms.2022.21048
• Laugwitz, L., Seibt, A., Herebian, D., Peralta, S., et al, Steinfeld, R., Joset, P., Steindl, K., & Rauch, A. (2022). Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes Journal of Medical Genetics, 59, 878–887. https://doi.org/10.1136/jmedgenet-2021-107729
• Ziegler, A., Steindl, K., Hanner, A. S., Kumar Kar, R., Prouteau, C., Boland, A., Deleuze, J. F., Coubes, C., Bézieau, S., Küry, S., Maystadt, I., Le Mao, M., Lenaers, G., Navet, B., Faivre, L., Tran Mau-Them, F., Zanoni, P., Chung, W. K., Rauch, A., … Park, M. H. (2022). Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder American Journal of Human Genetics, 109, 1549–1558. https://doi.org/10.1016/j.ajhg.2022.06.010
• Boonsawat, P., Horn, A. H. C., Steindl, K., Baumer Wolz, A., Joset, P., Kraemer, D., Bahr, A., Ivanovski, I., Cabello Ferrete, E., Papik, M., Zweier, M., Oneda, B., Sirleto, P., Burkhardt, T., Sticht, H., & Rauch, A. (2022). Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders N p j Genomic Medicine, 7, 45. https://doi.org/10.1038/s41525-022-00316-x
• Zanoni, P., Steindl, K., & Rauch, A. (2022). Response to Cueto-González et al. Genetics in Medicine, 24, 757. https://doi.org/10.1016/j.gim.2021.11.006

Seitennummerierung