Christian Windpassinger - Genetic Mutations

Author Information

Christian Windpassinger is affiliated with the Diagnostic and Research Institute of Human Genetics at the Medical University of Graz, located in Graz, Austria. His research primarily focuses on human genetics, with significant contributions in the study of various genetic disorders.

Research Contributions

Christian Windpassinger has made substantial contributions to the field of genetics, particularly in identifying and characterizing genetic mutations associated with various inherited diseases. His work spans a range of genetic conditions, including L-2-hydroxyglutaric aciduria, microcephaly, Bardet-Biedle syndrome, spastic paraplegia, and xeroderma pigmentosum. He has a particular interest in studying consanguineous Pakistani families to uncover novel genetic mutations. His research employs advanced techniques such as exome sequencing and microarray analysis to map and understand the genetic underpinnings of these diseases.

Aliases

Christian Windpassinger is also known by the aliases C Windpassinger and C. Windpassinger.

Publication and Citation Metrics

Metric	Value
Citation Count	4881
h-index	33
Paper Count	108

Publications:

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

DOI: 10.1007/s11011-021-00832-2

Year: 2021

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein truncating mutations of ASPM.

DOI: 10.1002/bab.2286

Year: 2021

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes

DOI: 10.7717/peerj.10711

Year: 2021

Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H

DOI: 10.1080/01616412.2020.1831329

Year: 2020

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

DOI: 10.1002/mgg3.1060

Year: 2020

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

DOI: 10.1002/mgg3.834

Year: 2019

Long- and short-term association of low-grade systemic inflammation with cardiovascular mortality in the LURIC study

DOI: 10.1007/s00392-019-01516-9

Year: 2019

Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.

DOI: 10.5455/jpma.300681

Year: 2019

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

DOI: 10.1038/mp.2017.60

Year: 2018

Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL

DOI: 10.1080/15622975.2016.1231421

Year: 2018

What Is the Role of Genetics in Cognitive Development?

What Types of Immunotherapy Are Available?

What is Gene Therapy?

What Makes a Mutation Harmful?

Can Mutations in Non-Coding Regions Cause Diseases?

What Are the Limitations of Sanger Sequencing?

How does Pharmacogenomics Relate to Genetic Mutations?

What is the Role of Neutral Mutations in Evolution?

What is the Delta F508 Mutation?

Can Neutral Mutations Become Beneficial or Harmful?

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