Publications by authors named "Ashley Marsh"

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Paired DNA/RNA testing uncovers a deep intronic pathogenic variant associated with clinical Cowden Syndrome: a case report.
Michael J Hall, Dong Won Kim, Devang Namjoshi, Michelle McSweeny, Marcy E Richardson, Ashley Pl Marsh

Front Oncol· October 2025

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Saturation mapping of MUTYH variant effects using DNA repair reporters.
Shelby L Hemker, Ashley Marsh, Felicia Hernandez, Elena Glick, Grace Clark

Am J Hum Genet· September 2025

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Association of Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals.
Jennifer Herrera-Mullar, Cassidy Carraway, Ashley P L Marsh, Felicia Hernandez, Emily Kudalkar

JCO Precis Oncol· August 2025

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Comprehensively Testing the Function of Missense Variation in the Tumour Suppressor.
Daniel Zimmerman, Atina Cote, Warren van Loggerenberg, Marinella Gebbia, Nishka Kishore, Ashley Pl Marsh

bioRxiv· July 2025

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Isolation, Characterization, and Epizootiology of Clostridioides cuniculi from Immunodeficient Mice with Enteric Disease.
Amy Funk, Ashley Crawford, Kourtney Nickerson, Laura Janke, Taylor Stringer, Ashley Marsh

J Am Assoc Lab Anim Sci· May 2025

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Saturation mapping of variant effects using DNA repair reporters.
Shelby L Hemker, Ashley Marsh, Felicia Hernandez, Elena Glick, Grace Clark

bioRxiv· March 2025

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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Ashley P L Marsh

Nat Genet· February 2023

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Genome Sequences of Gordonia Phages GrootJr and NovumRegina.
Erin L Doyle, Georgia M Elliott, Sean J Hummel, Katelyn A Jindra, Ashley T Marsh

Microbiol Resour Announc· December 2022

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, Rauan Kaiyrzhanov, Matias Wagner

Am J Hum Genet· October 2021

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DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation.
Laura Morcom, Ilan Gobius, Ashley Pl Marsh, Rodrigo Suárez, Jonathan Wc Lim

Elife· April 2021

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Synthesis and characterisation of isothiocyanate functionalised silicon nanoparticles and their uptake in cultured colonic cells.
Yimin Chao, Ashley I Marsh, Mehrnaz Behray, Feng Guan, Anders Engdahl

Faraday Discuss· June 2020

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CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.
Ashley P L Marsh, Gaia Novarino, Paul J Lockhart, Richard J Leventer

Eur J Hum Genet· January 2019

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Teaching NeuroImages: Imaging features of -mediated mirror movements and isolated agenesis of the corpus callosum.
Timothy J Edwards, Ashley P L Marsh, Paul J Lockhart, Linda J Richards, Richard J Leventer

Neurology· August 2018

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DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Ashley P L Marsh, Timothy J Edwards, Charles Galea, Helen M Cooper, Elizabeth C Engle

Hum Mutat· January 2018

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DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.
Ronan V da Silva, Helge C Johannssen, Matthias T Wyss, R Brian Roome, Farin B Bourojeni, Ashley P L Marsh

Cell Rep· January 2018

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea

Nat Genet· April 2017

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A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Ashley P L Marsh, Patrick Yap, Tiong Tan, Kate Pope, Susan M White

Am J Med Genet A· March 2017

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Heterozygous mutations in cause juvenile peroxisomal D-bifunctional protein deficiency.
David J Amor, Ashley P L Marsh, Elsdon Storey, Rick Tankard, Greta Gillies

Neurol Genet· December 2016

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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Ashley P L Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard

Neurol Genet· August 2015

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Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.
Richard J Leventer, Thomas Scerri, Ashley P L Marsh, Kate Pope, Greta Gillies

Neurology· May 2015

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Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Gabrielle R Wilson, Joe C H Sim, Catriona McLean, Maila Giannandrea, Charles A Galea, Ashley P L Marsh

Am J Hum Genet· December 2014

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Successful treatment of pill-swallowing difficulties with head posture practice.
Bonnie J Kaplan, Roberta A Steiger, Jamie Pope, Ashley Marsh, Maegan Sharp

Paediatr Child Health· May 2010

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