Thomas Courtin

Researcher

Lyon College

faculty

19 h-index 63 pubs 918 cited

Research Areas

Is this your profile? Verify and claim your profile

OverviewAI-generated summary

Dr. Thomas Courtin is a faculty member at Lyon College whose research encompasses Parkinson's disease, rare diseases, and neurodevelopmental disorders. His work delves into genomics, chromosomal abnormalities, and neurological metabolism. Courtin's recent scholarship includes a publication in 2025.

Metrics

h-index: 19
Publications: 63
Citations: 918

Selected Publications

RBMX functional retrocopy safeguards brain development (2025) DOI
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study (2025) DOI
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders (2025) DOI
De Novo Truncating Variants in <scp> ZNF865 </scp> Cause a Novel Neurodevelopmental Disorder (2025) DOI
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies (2025) DOI
Low-frequency genetic variants in GAK enhance Golgi function and protect against Parkinson’s disease (2025) DOI
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025) DOI
How is familial idiopathic scoliosis transmitted? Analysis of 26 pedigrees (2025) DOI
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability (2025) DOI
<scp>GATAD2B</scp>‐related developmental and epileptic encephalopathy (<scp>DEE</scp>): Extending the epilepsy phenotype and a literature appraisal (2025) DOI
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders (2025) DOI
Chediak-Higashi syndrome presenting as pure juvenile Parkinsonism (2024) DOI
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2024) DOI
Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism (2024) DOI
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy (2024) DOI