Publications by authors named "Abbey Scott"

Claim this Profile
I
Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric Wards.
Alexandra C Keefe, Abbey A Scott, Lukas Kruidenier, Jessie Conta, Darci Sternen

J Pediatr· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis.
Joon-Ho Yu, Katherine E MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Abbey Scott

HGG Adv· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Improving Asthma Guideline Implementation in Hospital Medicine (ImAGINE): A Single-site Improvement Initiative.
Daniel Herchline, Michelle Mitchell, Shanon Brannen, Abbey Scott, Skyler Patterson

Pediatr Qual Saf· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.
Tara L Wenger, Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe

Am J Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.
Ajay S Koti, Aviya Lanis, Samuel Finlayson, Susan Canny, Elana A Feldman, Abbey A Scott

Am J Med Genet A· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Johannes Münch, Marie Engesser, Ria Schönauer, J Austin Hamm, Christin Hartig, Abbey A Scott

Kidney Int· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A recurrent, pathogenic variant in disrupts actin filament formation and causes microcephaly and speech delay.
Dianne Laboy Cintron, Alison M Muir, Abbey Scott, Marie McDonald, Kristin G Monaghan

HGG Adv· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Ronit Marom, Lindsay C Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Daryl A Scott, Abbey A Scott

Am J Hum Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Maria J Nabais Sá, Philip J Jensik, Stacey R McGee, Michael J Parker, Nayana Lahiri, Abbey A Scott

Genet Med· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sinus pericranii in achondroplasia: a case report and review of the literature.
Abbey A Scott, Katelyn D Hodge, Wilfredo Torres-Martinez, Stephen R Dlouhy, Jodi L Smith

Clin Dysmorphol· October 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis