Alexander Hoischen - Genetic Mutations

Author Information

Alexander Hoischen is affiliated with the Department of Human Genetics at Radboud University Medical Center in Nijmegen, The Netherlands. His research primarily focuses on the genetic underpinnings of various diseases, employing advanced genomic technologies to identify and analyze genetic mutations and variations.

Research Contributions

Alexander Hoischen has made significant contributions to the field of genetics, particularly in the areas of hereditary diseases, cancer diagnostics, and rare disease genomics. His recent work includes studies on de novo mutations using familial long-read sequencing, optical genome mapping to identify structural variations related to severe COVID-19, and the use of whole exome sequencing to investigate sporadic inborn errors of immunity. He has also contributed to the understanding of genetic factors in hereditary gastrointestinal tumor syndromes and congenital caudal abnormalities.

Aliases

Alexander Hoischen is also known by the following aliases: A Hoischen, A. Hoischen, and Alex Hoischen.

Publication and Citation Metrics

Metric	Value
Citation Count	18,442
H-index	71
Paper Count	294

Publications:

Familial long-read sequencing increases yield of de novo mutations.

DOI: 10.1016/j.ajhg.2022.02.014

Year: 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

DOI: 10.1101/2022.03.30.22272929

Year: 2022

Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19

DOI: 10.1016/j.isci.2022.103760

Year: 2022

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

DOI: 10.1101/2022.03.17.22272534

Year: 2022

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.

DOI: 10.1016/j.ejmg.2022.104475

Year: 2022

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

DOI: 10.1111/cge.14076

Year: 2021

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

DOI: 10.1016/j.xhgg.2021.100046

Year: 2021

Clinical validation of Whole Genome Sequencing for cancer diagnostics.

DOI: 10.1016/j.jmoldx.2021.04.011

Year: 2021

Solving the unsolved rare diseases in Europe

DOI: 10.1038/s41431-021-00924-8

Year: 2021

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

DOI: 10.1002/path.5755

Year: 2021

What is Genetic Engineering?

What are Autism Spectrum Disorders?

What are DNA Replication Errors?

How are Neutral Mutations Detected?

How are Patients Monitored During TKI Therapy?

How Does UV Radiation Cause Genetic Mutations?

Why are Non-Coding Regions Important?

How Do Chemicals Cause Genetic Mutations?

What are the Symptoms and Complications?

What are the ethical considerations of using ZFNs?

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