MMAPPR: mutation mapping analysis pipeline for pooled RNA-seq
JT Hill, BL Demarest, BW Bisgrove, B Gorsi… - Genome …, 2013 - genome.cshlp.org
Forward genetic screens in model organisms are vital for identifying novel genes essential
for developmental or disease processes. One drawback of these screens is the labor-…
for developmental or disease processes. One drawback of these screens is the labor-…
Tinkering with heparan sulfate sulfation to steer development
B Gorsi, SE Stringer - Trends in cell biology, 2007 - cell.com
Heparan sulfate (HS) proteoglycans, at the cell surface and extracellular matrix, facilitate
ligand–receptor interactions crucial to many physiological processes. The distinct sulfation …
ligand–receptor interactions crucial to many physiological processes. The distinct sulfation …
[HTML][HTML] A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia
…, JV Varre, JL Guevara, EJ Hernandez, B Gorsi… - NPJ Genomic …, 2022 - nature.com
Adiponectin, encoded by ADIPOQ, is an insulin-sensitizing, anti-inflammatory, and renoprotective
adipokine that activates receptors with intrinsic ceramidase activity. We identified a …
adipokine that activates receptors with intrinsic ceramidase activity. We identified a …
Causal and candidate gene variants in a large cohort of women with primary ovarian insufficiency
B Gorsi, E Hernandez, MB Moore… - The Journal of …, 2022 - academic.oup.com
Context A genetic etiology likely accounts for the majority of unexplained primary ovarian
insufficiency (POI). Objective We hypothesized that heterozygous rare variants and variants in …
insufficiency (POI). Objective We hypothesized that heterozygous rare variants and variants in …
Heart morphogenesis gene regulatory networks revealed by temporal expression analysis
During embryogenesis the heart forms as a linear tube that then undergoes multiple simultaneous
morphogenetic events to obtain its mature shape. To understand the gene regulatory …
morphogenetic events to obtain its mature shape. To understand the gene regulatory …
Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder
Pediatric bipolar disorder (PBD) is a severe mood dysregulation condition that affects 0.5–1%
of children and teens in the United States. It is associated with recurrent episodes of mania …
of children and teens in the United States. It is associated with recurrent episodes of mania …
Dynamic expression patterns of 6‐O endosulfatases during zebrafish development suggest a subfunctionalisation event for sulf2
B Gorsi, S Whelan, SE Stringer - Developmental Dynamics, 2010 - Wiley Online Library
The 6‐O‐endosulfatase enzymes (Sulfs) edit the final sulfation pattern and function of heparan
sulfate (HS) by removal of 6‐O‐sulfate groups from the chain. To date, two mammalian …
sulfate (HS) by removal of 6‐O‐sulfate groups from the chain. To date, two mammalian …
The heparan sulfate editing enzyme Sulf1 plays a novel role in zebrafish VegfA mediated arterial venous identity
Arterial and venous specification is critical for establishing and maintaining a functioning
vascular system, and defects in key arteriovenous signaling pathways including VEGF (…
vascular system, and defects in key arteriovenous signaling pathways including VEGF (…
DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis
EB Johnstone, B Gorsi, E Coelho… - The Journal of …, 2023 - academic.oup.com
Context A genetic etiology accounts for the majority of unexplained primary ovarian insufficiency
(POI). Objective We hypothesized a genetic cause of POI for a sister pair with primary …
(POI). Objective We hypothesized a genetic cause of POI for a sister pair with primary …
[PDF][PDF] Neurite outgrowth deficits caused by rare PLXNB1 variant identified in induced pluripotent stem cell-derived neurons from individual with pediatric bipolar …
G Yang, E Parker, B Gorsi, M Libowitz, C Maguire… - medRxiv, 2022 - medrxiv.org
Pediatric Bipolar Disorder (PBD) is a severe mood dysregulation condition experienced by
0.5–1% of children and teens in the United States. It is associated with recurrent episodes of …
0.5–1% of children and teens in the United States. It is associated with recurrent episodes of …