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Practical Neurology|March 28, 2024
Lessons and pitfalls of whole genome sequencingChristopher J Record, Mary M ReillyJournal of Clinical Neuromuscular Disease|September 3, 2025
A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the LiteratureChristina Chrisman, Ritwik Keshav, Christopher J Record, et al.Neuromuscular Disorders : NMD|August 2, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathyValentine Perrain, Christopher J Record, Mariola Skorupinska, et al.Plos One|August 24, 2010
Structural comparison of human mammalian ste20-like kinasesChristopher J Record, Apirat Chaikuad, Peter Rellos, et al.Journal of the Peripheral Nervous System : JPNS|September 30, 2022
Severe distinct dysautonomia in RFC1-related disease associated with ParkinsonismChristopher J Record, Rana Alnasser Alsukhni, Riccardo Curro, et al.Journal of the Peripheral Nervous System : JPNS|July 12, 2026
Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function VariantPedro Jose Tomaselli, Rodrigo Siqueira Soares Frezatti, Christopher J Record, et al.Journal of the Peripheral Nervous System : JPNS|December 22, 2023
Digenic FLNA and UCHL1 variants resulting in a complex phenotypeHelena F Pernice, Luke F O'Donnell, Alexander M Rossor, et al.Neuromuscular Disorders : NMD|December 28, 2025
Expression of genetic peripheral neuropathies in South African childrenSharika V Raga, Gwendoline Q Kandawasvika, Alvin Ndondo, et al.European Journal of Neurology|February 10, 2025
Heterozygous PNPT1 Variants Cause a Sensory Ataxic NeuropathySaif Haddad, Christopher J Record, Eleanor Self, et al.Brain : a Journal of Neurology|March 14, 2024
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth diseaseChristopher J Record, Menelaos Pipis, Mariola Skorupinska, et al.Pageof 3