Publications by authors named "Colleen McCormack"

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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Colleen McCormack

Genet Med· September 2024

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Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Yin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, Lisa Gartner, Freia Krause, Colleen McCormack

J Allergy Clin Immunol· August 2021

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Colleen McCormack

J Inherit Metab Dis· November 2020

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An Effort to Develop an Algorithm to Target Abdominal CT Scans for Patients After Gastric Bypass.
Luise I M Pernar, Ryan Lockridge, Colleen McCormack, Judy Chen, Scott A Shikora

Obes Surg· October 2016

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