Publications by authors named "Kayla Muirhead"

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variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Raffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, Guy Helman, Leslie E Sanderson, Kayla Muirhead

medRxiv· July 2025

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Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.
Emma R Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Kayla Muirhead

Ann Child Neurol Soc· July 2025

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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Francesco Gavazzi, Brittany Charsar, Eline Hamilton, Jacqueline A Erler, Virali Patel, Kayla Muirhead

Mol Genet Metab· March 2025

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Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.
Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, Kayla J Muirhead, Holly Dubbs

Am J Med Genet A· December 2024

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Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Laura Ann Adang, Samuel Groeschel, Chloe Grzyb, Russell D'Aiello, Francesco Gavazzi, Kayla Muirhead

Mol Genet Metab· August 2024

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Erin Thorpe, Taylor Williams, Chad Shaw, Evgenii Chekalin, Julia Ortega, Kayla Muirhead

Am J Hum Genet· July 2024

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A novel cysteine-rich adaptor protein is required for mucin packaging and secretory granule stability in vivo.
Liping Zhang, Kayla J Muirhead, Zulfeqhar A Syed, Emilios K Dimitriadis, Kelly G Ten Hagen

Proc Natl Acad Sci U S A· February 2024

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Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Francesco Gavazzi, Samuel R Pierce, Joseph Vithayathil, Kristin Cunningham, Kim Anderson, Kayla Muirhead

Mol Genet Metab· October 2022

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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Kayla Muirhead

Ann Neurol· August 2022

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Genome sequencing identifies three molecular diagnoses including a mosaic variant in the gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Kayla J Muirhead, Amanda R Clause, Zinayida Schlachetzki, Holly Dubbs, Denise L Perry

Cold Spring Harb Mol Case Stud· December 2021

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A molecular switch orchestrates enzyme specificity and secretory granule morphology.
Suena Ji, Nadine L Samara, Leslie Revoredo, Liping Zhang, Duy T Tran, Kayla Muirhead

Nat Commun· August 2018

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