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Abbey Scott | Researchclopedia

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Abbey Scott

Seattle Children's Hospital

24

Works

127

Citations

6

h-index

5

i10-index

Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Connective tissue disorders research

Affiliations

Cincinnati Children's Hospital Medical Center2025–2025

Seattle Children's Hospital2019–2026

University of Washington2023–2023

Top Works

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Ronit Marom,Lindsay C. Burrage,et al.

202137 citations

Cancer Genomics and Diagnostics

RNA Research and Splicing

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Maria João Nabais Sá,Philip J. Jensik,et al.

201933 citations

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Johannes Münch,Marie Engesser,et al.

202219 citations

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Tara Wenger,Abbey Scott,et al.

202514 citations

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Dianne Laboy Cintron,Alison M. Muir,et al.

202111 citations

Sinus pericranii in achondroplasia: a case report and review of the literature

Abbey Scott,Katelyn D. Hodge,et al.

20176 citations

Improving Asthma Guideline Implementation in Hospital Medicine (ImAGINE): A Single-site Improvement Initiative

Daniel Herchline,Michelle Mitchell,et al.

20253 citations

Implementation of First-Line Rapid Genome Sequencing in Non–Critical Care Pediatric Wards

Alexandra Keefe,Abbey Scott,et al.

20251 citations

<i>COPB2</i> haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Ronit Marom,Lindsay C. Burrage,et al.

20201 citations