Johannes Zschocke - Genetic Mutations

Author Information

Johannes Zschocke is affiliated with the Institute of Human Genetics at the Medical University Innsbruck, located in Innsbruck, Austria. His research primarily focuses on genetics, with a particular interest in rare genetic disorders, mitochondrial function, and personalized medicine.

Research Contributions

Johannes Zschocke has made significant contributions to the field of genetics through his extensive research. In 2022 alone, he has published papers on diverse topics such as clonal hematopoiesis, glutathione metabolism disorders, pulse wave reconstruction, hyperlipoproteinemia, and induced pluripotent stem cell lines. His work also includes insights into the value of European Reference Networks for rare diseases and the future of personalized medicine. In 2021, he contributed to our understanding of mitochondrial RNA processing defects and rare genetic disorders affecting periodontal tissues.

Aliases

Johannes Zschocke is also known by the aliases J. Zschocke and J Zschocke.

Publication and Citation Metrics

Metric	Value
Citation Count	11,954
H-Index	57
Paper Count	389

Publications:

Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study

DOI: 10.1016/j.ekir.2022.01.1064

Year: 2022

Disorder of Glutathione Metabolism

DOI: 10.1007/978-3-030-67727-5_16

Year: 2022

Reconstruction of Pulse Wave and Respiration From Wrist Accelerometer During Sleep

DOI: 10.1109/TBME.2021.3107978

Year: 2022

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk

DOI: 10.1161/CIRCGEN.121.003489

Year: 2022

Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene.

DOI: 10.1016/j.scr.2022.102784

Year: 2022

The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.

DOI: 10.55563/clinexprheumatol/d2qz38

Year: 2022

Quo vadis now: Beyond genomics to an era of personalised medicine

DOI: 10.1002/jimd.12487

Year: 2022

Reply: CFTR analysis should not be offered to all patients with unexplained azoospermia in the presence of normal gonadotropin levels.

DOI: 10.1093/humrep/deab073

Year: 2021

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

DOI: 10.1016/j.ajhg.2021.10.002

Year: 2021

Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence

DOI: 10.3389/fdmed.2021.687510

Year: 2021

How Are Genetic Mutations Mapped in Phylogenetic Trees?

What is Cellular Heterogeneity?

What are TALENs?

What Are Chromosomal Mutations?

Can inherited genetic mutations be treated?

What Are the Common Genetic Disorders Linked to Infertility?

How are Synonymous Codons Studied?

What Are the Regulatory Guidelines for Benzene Exposure?

How Do PARP Inhibitors Work?

How are CNVs Detected?

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