Jennifer M. Gass

机构：Florida Cancer Specialists & Research Institute · ORCID：0000-0001-8189-4189

发表论文 57 篇 · 总被引 6984 次 · h-index 24

代表论文

• Maple syrup urine disease: mechanisms and management (2017 · The Application of Clinical Genetics · 被引 275)
• Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome (2018 · The American Journal of Human Genetics · 被引 180)
• BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms (2020 · The American Journal of Human Genetics · 被引 49)
• Analysis of X‐inactivation status in a Rett syndrome natural history study cohort (2022 · Molecular Genetics & Genomic Medicine · 被引 24)
• A novel splice site variant in CYP 11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency (2017 · Molecular Genetics & Genomic Medicine · 被引 16)
• A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics (2016 · BMC Medical Genetics · 被引 14)