G Bradly Schaefer
Researcher
Also affiliated: Victorian Clinical Genetics Services (2005); University of Nebraska Medical Center (2005)
Unknown Researcher
Research Areas
Biomedical Subjects
Biography and Research Information
OverviewAI-generated summary
G. Bradly Schaefer's research focuses on understanding the genetic and molecular underpinnings of human diseases. His work investigates how specific gene mutations, such as those in NSD1, can lead to developmental disorders like Sotos syndrome by deregulating gene transcription and DNA methylation. He also studies the characterization of newly identified genetic disorders, such as mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder, examining its clinical, neuroradiological, and molecular features. Schaefer has published 10 papers with 113 citations and an h-index of 3. He has collaborated with Monica M. Davis at the University of Arkansas for Medical Sciences on one publication. His recent activity indicates ongoing research in these areas.
Metrics
- h-index: 2
- Publications: 2
- Citations: 115
Selected Publications
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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder (2023)
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<i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome (2022)
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Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome (2019)
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The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy (2019)
Collaboration Network
Top Collaborators
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- <i>NSD1</i> mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
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