Match tier
Listed
Presence
Current · Arkansas
Last published
2023
Sources
OpenAlex · ORCID
Refreshed
2026-10-04
G
G Bradly Schaefer
Role not yet determined Is this you? Add your title
Also affiliated: Victorian Clinical Genetics Services (2005); University of Nebraska Medical Center (2005)
2 h-index
2 pubs
117 cited
Research Areas
Biomedical Subjects
Biography and Research Information
OverviewAI-generated summary
G. Bradly Schaefer's research focuses on the genetic underpinnings of neurodevelopmental disorders. His work has investigated the mechanisms behind microdeletions in chromosome 5q35, which are implicated in Sotos syndrome. Schaefer has also studied disruptive variants in the NCKAP1 gene, linking them to neurodevelopmental disorders with core features of autism. Further research includes examining how NSD1 mutations affect gene transcription and DNA methylation in Sotos syndrome, as well as characterizing mitochondrial disorders related to TARS2 mutations. His publications also cover rare neurocutaneous syndromes associated with mosaic chromosome 5p tetrasomy and the neurological aspects of POGZ mutations. Schaefer's h-index is 2 with 117 total citations across his publications.
Metrics
- h-index: 2
- Publications: 2
- Citations: 117
Selected Publications
-
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder (2023)
-
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome (2022)
-
Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome (2019)
-
The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy (2019)
Collaboration Network
Top Collaborators
Debopam Samanta
Arkansas Children's Hospital
2 shared publications
In database
- The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy
- Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome
Raghu H. Ramakrishnaiah
University of Arkansas for Medical Sciences
1 shared publication
In database
- The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy
Kevin Brennan
Stanford Medicine (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
Hong Zheng
Stanford Medicine (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
Jill A. Fahrner
Johns Hopkins University (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
June Ho Shin
Stanford University (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
Andrew J. Gentles
Stanford Medicine (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
John B. Sunwoo
Stanford University (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
Jonathan Adam Bernstein
Stanford University (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
Olivier Gevaert
Stanford Medicine (US)
1 shared publication
- NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome
Andrea Accogli
Montreal Children's Hospital (CA)
1 shared publication
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Sheng‐Jia Lin
Oklahoma Medical Research Foundation (US)
1 shared publication
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Mariasavina Severino
Istituto Giannina Gaslini (IT)
1 shared publication
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Sung-Hoon Kim
McGill University (CA)
1 shared publication
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Kevin Huang
Oklahoma Medical Research Foundation (US)
1 shared publication
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Similar Researchers
Based on overlapping research topics
Aixa Gonzalez Garcia
University of Arkansas for Medical Sciences
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Metabolism and Genetic Disorders
Jill Kelsay
University of Arkansas for Medical Sciences
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Metabolism and Genetic Disorders
Jeffrey L. Clothier
University of Arkansas for Medical Sciences
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Metabolism and Genetic Disorders
Carissa Rodriquez
University of Arkansas for Medical Sciences
Genomics and Rare Diseases
Metabolism and Genetic Disorders
Medical Case Reports
Akilandeswari Aravindhan
University of Arkansas for Medical Sciences
Genomics and Rare Diseases
Metabolism and Genetic Disorders
Medical Case Reports
Alexandrea F. Wadley
University of Arkansas for Medical Sciences
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Metabolism and Genetic Disorders