Frank F. Baas - Genetic Mutations

Author Information

Dr. Frank F. Baas is a prominent researcher affiliated with the Department of Human Genetics at Leiden University Medical Center in Leiden, Netherlands. His extensive work in the field of genetics has made significant contributions to our understanding of various genetic disorders and their underlying mechanisms.

Research Contributions

Dr. Frank F. Baas has made substantial contributions to genetics, as evidenced by his diverse range of publications in 2021. His research has delved into genetic risk factors for multiple-organ failure in acute pancreatitis, the role of tRNA splicing endonuclease in pontocerebellar hypoplasia, and the safety and efficacy of C1-inhibitor in traumatic brain injury. Additionally, he has explored the evolving role of next-generation sequencing in diagnosing hemoglobinopathies and identified pathogenic Huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Dr. Baas has also contributed to studies on genetic variants associated with juvenile amyotrophic lateral sclerosis, treatments for neuropathy, genetic biomarkers for immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathy, and integrated multi-omic analysis in ALS patients. However, it should be noted that one of his papers on predicting the onset of arthritis in individuals at risk for rheumatoid arthritis was retracted.

Aliases

Dr. Frank F. Baas is also known by several aliases, including Frankk Baas, F. Baas, Frank Baas, and F Baas.

Publication and Citation Metrics

Metric	Value
Total Citation Count	30,399
H-index	90
Total Paper Count	516

Publications:

Whole-Exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-Organ Failure in Acute Pancreatitis.

DOI: 10.1097/SLA.0000000000004312

Year: 2021

Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia

DOI: 10.1038/s41467-021-25870-3

Year: 2021

Safety and efficacy of C1-inhibitor in traumatic brain injury (CIAO@TBI): study protocol for a randomized, placebo-controlled, multi-center trial

DOI: 10.1186/s13063-021-05833-1

Year: 2021

The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

DOI: 10.3389/fphys.2021.686689

Year: 2021

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

DOI: 10.1016/j.neuron.2020.11.005

Year: 2021

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

DOI: 10.1001/jamaneurol.2021.2598

Year: 2021

Treatment with IFB-088 improves neuropathy in CMT1A and CMT1B mice

DOI: 10.1101/2021.10.18.464779

Year: 2021

Genetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathy

DOI: 10.1111/ene.14742

Year: 2021

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

DOI: 10.1016/j.isci.2021.103221

Year: 2021

Retraction: Dominant B cell receptor clones in peripheral blood predict onset of arthritis in individuals at risk for rheumatoid arthritis

DOI: 10.1136/annrheumdis-2017-211351ret

Year: 2021

What are Inherited Mutations?

How Does it Differ from Autosomal Dominant Inheritance?

What Treatments are Available for CFTR-Related Conditions?

What are Copy Number Variations (CNVs)?

What are the Evolutionary Implications of Synonymous Codons?

How are Mutations Induced in Plants?

What is Hemoglobin Electrophoresis?

Why Study Genetic Mutations?

How Do Genetic Mutations Affect Brain Development?

Can Gene Amplification Be Targeted Therapeutically?

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