Christian R Marshall

20PUBLICATIONS
223CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Medical molecular engineering of nucleic acids and proteinsData mining and knowledge discovery
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Publications (20)

|May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

|Feb 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Apr 01, 2025
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.

Thanuja Selvanayagam, Ny Hoang, Ege Sarikaya

|Feb 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Katherine B Howell, Susan M White, Amy McTague

|Oct 07, 2024
A call to action to scale up research and clinical genomic data sharing.

Zornitza Stark, David Glazer, Oliver Hofmann

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Frequent Collaborators

7 joint publications

Stephen W Scherer

4 joint publications

Jacob Vorstman

4 joint publications

John Christodoulou

4 joint publications

Giovanna Pellecchia