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1959 NE Pacific StSeattle, WA 98195
Phone+1 206-598-4070
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Summary
- Dr. Sarah Paolucci, MD is a medical geneticist in Seattle, Washington.
Publications & Presentations
PubMed
- 1 citationsDe novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech
Brain. 2024-08-01 - 41 citationsThe landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best
Genetics in Medicine. 2023-12-01 - 5 citationsMonoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin
American Journal of Human Genetics. 2023-06-01