Research output per year
Research output per year
Research output
- 6 Article
-
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death
Weis, D., Lin, L. L., Wang, H. H., Li, Z. J., Kusikova, K., Ciznar, P., Wolf, H. M., Leiss-Piller, A., Wang, Z., Wei, X., Weis, S., Skalicka, K., Hrčková, G., Danisovic, L., Soltysova, A., Yang, T. T., Feichtinger, R. G., Mayr, J. A. & Qi, L., Nov 2023, In: The Journal of Clinical Investigation. 134, 2, 35 p., e170882.Research output: Contribution to journal › Article › peer-review
Open Access -
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool
Kusikova, K., Soltysova, A., Ficek, A., Feichtinger, R. G., Mayr, J. A., Skopkova, M., Gasperikova, D., Kolnikova, M., Ornig, K., Kalev, O., Weis, S. & Weis, D., 03 Dec 2023, In: Genes. 14, 12, 13 p., 2174.Research output: Contribution to journal › Article › peer-review
Open Access -
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations
Altmann, R., Smogavec, M., Gerykova Bujalkova, M., Neesen, J., Behunova, J., Yerlikaya-Schatten, G., Reischer, T., Weis, D., Duba, H.-C., Laccone, F. & Lehner, R., Apr 2022, In: European Journal of Human Genetics. 30, 4, p. 428-438 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy
Kusikova, K., Feichtinger, R. G., Csillag, B., Kalev, O., Weis, S., Duba, H.-C., Mayr, J. A. & Weis, D., 16 Apr 2021, In: Frontiers in Pediatrics. 9, 7 p., 660076.Research output: Contribution to journal › Article › peer-review
Open Access -
Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways
Manzanilla-Romero, H. H., Weis, D., Schnaiter, S. & Rudnik-Schöneborn, S., Dec 2021, In: American Journal of Medical Genetics - Part A. 185, 12, p. 3851-3858 8 p.Research output: Contribution to journal › Article › peer-review
Open Access
-
Neuromuskuläre Erkrankungen mit unklarem genetischen Hintergrund. Eine explorative retrospektive Studie zur Erfassung neuer krankheitsrelevanter Gene
Weis, D. (PI)
10.10.2021 → …
Project: Clinical studies › Clinical Study (Academic - no third-party funds)
-
Retrospektive Genotyp-Phänotyp Studie in seltenen genetisch bedingten Erkrankungen
Nagy, D. (PI), Duba, H.-C. (Researcher), Weis, D. (Researcher), Heinl, B. (Researcher), Maurer, M. (Researcher), Skvariloca, M. (Researcher) & Braun, R. (Researcher)
01.10.2021 → …
Project: Clinical studies › Clinical Study (Academic - no third-party funds)
-
Retrospektive Genotyp-Phänotyp Studie in seltenen genetisch bedingten Erkrankungen
Braun, R. (Researcher), Duba, H.-C. (Researcher), Heinl, B. (Researcher), Maurer, M. (Researcher), Skvariloca, M. (Researcher), Weis, D. (Researcher) & Nagy, D. (PI)
15.09.2021 → 15.12.2023
Project: Clinical studies › Clinical Study (Academic - no third-party funds)
-
The c.3143A>G Mutation in the PIK3CA present as constitutional mutation in a fetus with macrosomia, macrocephaly, hepatomegaly and abdominal cyst formation
Weis, D. (Speaker)
06 Oct 2021Activity: Talk or presentation › Contributed talk › science-to-science
-
Missence variant and ist funcional study in the elucidation of VARS2-associated lethal hypertrophic cardiomyopathy
Kusikova, K. (Speaker) & Weis, D. (Speaker)
24 Sept 2021Activity: Talk or presentation › Contributed talk › science-to-science
-
PIGQ-related glycophosphatidylinositol deficiency associated with recurrent attacks of rhabdomyolysis
Weis, D. (Speaker)
24 Sept 2021Activity: Talk or presentation › Invited talk › science-to-science
-
Faszinierende Geheimnisse der Genetik
Weis, D. (Speaker)
03 Sept 2021Activity: Talk or presentation › Contributed talk › science-to-public
-
New approaches to the genetics of nerumuscular disorders
Weis, D. (Speaker)
22 Jan 2021Activity: Talk or presentation › Contributed talk › science-to-science