Explanipedia

P774: Chromosome breakage analysis (CBA) is a powerful functional assay for classification of novel variants in Fanconi anemia genes Open

Mina Tabrizi, Craig A. Davis, Donna Blackwell, Timothy E. O’Brien, Amiee Potter , et al. · 2025

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon Open

Timothy O’Brien, Amiee Potter, Catherine C. Driscoll, Gregory Goh, John Letaw , et al. · 2023

O32: The Healthy Oregon Project: A successful statewide model for low-cost genetic screening for inherited cancer and familial hypercholesterolemia* Open

Timothy O’Brien, Amiee Potter, Catherine Driscoll, Gregory Goh, Sarah McCabe , et al. · 2023

P538: Missense variants and a mild non-lethal form of TARP? Open

Amiee Potter, Timothy O’Brien, Arpita Kulkarni, Sarah McCabe, Karen Kovak , et al. · 2023

P618: Prenatal detection of a novel pathogenic missense variant in COL11A1 leads to a familial diagnosis of Stickler syndrome type II Open

Timothy O’Brien, Amiee Potter, Sarah McCabe, Arpita Kulkarni, Sue Richards , et al. · 2023

A case for expanding carrier testing to include actionable X‐linked disorders Open

Alan F. Rope, Tia L. Kauffman, Pat Himes, Laura M. Amendola, Sumit Punj , et al. · 2018

Key Clinical Message A research study utilizing whole‐genome sequence analysis for preconception carrier screening provided a genome‐first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy manage…

Ancient human parallel lineages within North America contributed to a coastal expansion Open

Christiana L. Scheib, Hongjie Li, Tariq Desai, Vivian Link, Christopher Kendall , et al. · 2018

Founder effects in modern populations The genomes of ancient humans can reveal patterns of early human migration (see the Perspective by Achilli et al. ). Iceland has a genetically distinct population, despite relatively recent settlement …

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory Open

Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason , et al. · 2018

MicroRNA Signatures of Colonic Polyps on Screening and Histology Open

Vassiliki L. Tsikitis, Amiee Potter, Motomi Mori, Julie A. Buckmeier, Christina Preece , et al. · 2016

Colorectal cancer and adenoma adjacent to cancer exhibit distinct microRNA (miRNA) alterations in an apparent mucosa-to-adenocarcinoma sequence. The pattern of microRNAs in screen-detected polyps in relation to histologic features and canc…

Gene expression changes between patent and fused cranial sutures in a nonsyndromic craniosynostosis population. Open

Amiee Potter, Jennifer Rhodes, Rafael A. Vega, T De Ridder, Rita Shiang · 2015

Differentially expressed genes were identified in fused suture relative to patent in a nonsyndromic craniosynostosis population. SFRP2 is likely important in suture patency. Genes having significant roles in osteoblastogenesis as negative …

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