User profiles for Donna M. Brown
 | Donna M BrownUAB - Genetics Verified email at uab.edu Cited by 5562 |
A genetic linkage map of the laboratory rat, Rattus norvegicus
We report the construction of the first complete genetic linkage map of the laboratory rat. By
testing 1171 simple sequence length polymorphisms (SSLPs), we have identified 432 …
testing 1171 simple sequence length polymorphisms (SSLPs), we have identified 432 …
[PDF][PDF] MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
…, BE Boone, LC Briere, DM Brown, M Brush… - The American Journal of …, 2017 - cell.com
One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …
understanding of the functional impact of genetic alterations on biological processes. …
[PDF][PDF] The undiagnosed diseases network: accelerating discovery about health and disease
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary,
and collaborative in unprecedented ways. Exact disease recognition, an element of …
and collaborative in unprecedented ways. Exact disease recognition, an element of …
Renal disease susceptibility and hypertension are under independent genetic control in the fawn-hooded rat
Hypertension, diabetes and hyperlipidemia are risk factors for life-threatening complications
such as end-stage renal disease, coronary artery disease and stroke. Why some patients …
such as end-stage renal disease, coronary artery disease and stroke. Why some patients …
[PDF][PDF] A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
…, BE Boone, LC Briere, DM Brown, M Brush… - The American Journal of …, 2017 - cell.com
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …
[PDF][PDF] IRF2BPL is associated with neurological phenotypes
…, BL Bostwick, LC Briere, DM Brown, M Brush… - The American Journal of …, 2018 - cell.com
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP
family of transcriptional regulators. Currently the biological function of this gene is obscure…
family of transcriptional regulators. Currently the biological function of this gene is obscure…
[HTML][HTML] A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10…
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10…
[PDF][PDF] Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
…, BL Bostwick, LC Briere, DM Brown, M Brush… - The American Journal of …, 2018 - cell.com
ATP synthase, H + transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly
ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling …
ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling …
[PDF][PDF] Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay
…, BL Bostwick, LC Briere, DM Brown, M Brush… - The American Journal of …, 2019 - cell.com
SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin
remodeling BAF (BRG1-associated factor) complex and plays a crucial role in …
remodeling BAF (BRG1-associated factor) complex and plays a crucial role in …
A high-density integrated genetic linkage and radiation hybrid map of the laboratory rat
The laboratory rat (Rattus norvegicus) is a key animal model for biomedical research. However,
the genetic infrastructure required for connecting phenotype and genotype in the rat is …
the genetic infrastructure required for connecting phenotype and genotype in the rat is …