Christian R. Marshall

Biochemistry, Genetics and Molecular Biology · Life Sciences

75h-index36.1kcitations333works3.72yr avg
OpenAlex↗ORCID↗Google Scholar↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genomic variations and chromosomal abnormalities(138), Genomics and Rare Diseases(105), Genetics and Neurodevelopmental Disorders(75), Congenital heart defects research(63), Autism Spectrum Disorder Research(56)

Publications321 total

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A ( <scp>RESORVA</scp> ): A Novel <scp> <i>RDH11</i> </scp> ‐Related Phenotype
Clinical Genetics·2025Open Access
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Nature Genetics·2025· 1 citedOpen Access
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study
Genetics in Medicine·2025· 1 cited
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
Genetics in Medicine·2025
A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis
Genetics in Medicine·2025· 1 citedOpen Access
Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation
Journal of Allergy and Clinical Immunology·2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist
BMJ Open·2025Open Access
The evolution of health data ecosystems: An international survey
The American Journal of Human Genetics·2025Open Access
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
Genome Medicine·2025· 8 citedOpen Access
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
npj Genomic Medicine·2025· 2 citedOpen Access
The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
European Journal of Human Genetics·2025· 2 citedOpen Access
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
Journal of Medical Genetics·2025· 3 citedOpen Access
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
npj Genomic Medicine·2025· 9 citedOpen Access
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
2025· 1 citedOpen Access
An X-linked long non-coding RNA, PTCHD1-AS, regulates autistic behaviors in humans and in mice
2025Open Access
P161: Impact and evolution of a philanthropic global network providing clinical genomic testing*
Genetics in Medicine Open·2025Open Access
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
2024Open Access
Genome sequencing reveals novel <i>IKBKG</i> structural variants associated with incontinentia pigmenti
British Journal of Dermatology·2024· 1 cited
A call to action to scale up research and clinical genomic data sharing
Nature Reviews Genetics·2024· 37 citedOpen Access
Diagnosis of <i>TET3</i>‐Related Beck–Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a <scp>DNA</scp> Methylation Signature
American Journal of Medical Genetics Part A·2024· 1 citedOpen Access
page 1 of 17Next →

Frequent Co-authors

Stephen W. Scherer(40), Bridget A. Fernandez(23), Péter Szatmári(18), Daniele Merico(18), Anath C. Lionel(18), Wendy Roberts(18), Bhooma Thiruvahindrapuram(18), Lonnie Zwaigenbaum(17), Dalila Pinto(14), Jennifer Howe(14), Ryan K. C. Yuen(13), Rosanna Weksberg(13), Dimitri J. Stavropoulos(13), Giovanna Pellecchia(11), Susan Walker(11), Zhuozhi Wang(10), Evdokia Anagnostou(9), Thomas Nalpathamkalam(9), Géraldine Dawson(8), Irene Drmic(8)