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-…

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 …

[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 …

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 …

Heart morphogenesis gene regulatory networks revealed by temporal expression analysis

JT Hill, B Demarest, B Gorsi, M Smith… - Development, 2017 - journals.biologists.com
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 …

Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder

G Yang, HMA Ullah, E Parker, B Gorsi, M Libowitz… - Molecular …, 2023 - nature.com
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 …

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 …

The heparan sulfate editing enzyme Sulf1 plays a novel role in zebrafish VegfA mediated arterial venous identity

B Gorsi, F Liu, X Ma, TJA Chico, A Shrinivasan… - Angiogenesis, 2014 - Springer
Arterial and venous specification is critical for establishing and maintaining a functioning
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 …

[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 …