Publications by authors named "Caroline Mebane"

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Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Khemika K Sudnawa, Wenxing Li, Sean Calamia, Cara H Kanner, Jennifer M Bain, Caroline M Mebane

Genet Med· August 2024

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Prophylactic Effect of -Acetylcysteine in an Adolescent With Trichotillomania After Acetaminophen Overdose.
Michael Ferguson, Caroline M Mebane, Abhishek Reddy

JAACAP Open· June 2023

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Clinical and genomic characterization of 8p cytogenomic disorders.
Volkan Okur, Laura Hamm, Haluk Kavus, Caroline Mebane, Scott Robinson

Genet Med· December 2021

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Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic.
Michelle Kowanda, Lindsey Cartner, Catherine Kentros, Alexa R Geltzeiler, Kaitlyn E Singer, Caroline M Mebane

J Child Neurol· August 2021

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Genotype and defects in microtubule-based motility correlate with clinical severity in -associated neurological disorder.
Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane

HGG Adv· April 2021

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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Caroline Mebane

Lancet· February 2019

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Diagnostic Utility of Exome Sequencing for Kidney Disease.
Emily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, Slavé Petrovski, Vimla S Aggarwal, Caroline M Mebane

N Engl J Med· January 2019

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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
Slavé Petrovski, Jamie L Todd, Michael T Durheim, Quanli Wang, Jason W Chien, Caroline M Mebane

Am J Respir Crit Care Med· July 2017

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