Elisabeth Tournier‐Lasserve

Inserm — France

Medicine · Health Sciences

84h-index25.8kcitations356works3.42yr avg
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Research Topics

Cerebrovascular and genetic disorders(130), Moyamoya disease diagnosis and treatment(67), Vascular Malformations Diagnosis and Treatment(59), Intracranial Aneurysms: Treatment and Complications(55), Intracerebral and Subarachnoid Hemorrhage Research(55)

Publications348 total

<i>COL4A1</i> and <i>COL4A2</i> Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults
Stroke·2026
COL4A1- and COL4A2-Related Disorders—Clinical Features, Diagnostic Guidelines, and Management
2025Open Access
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management
Genetics in Medicine·2025· 7 citedOpen Access
Benchmark of computational methods to detect digenism in sequencing data
European Journal of Human Genetics·2025· 2 cited
Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease
Stroke·2025
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity
Prenatal Diagnosis·2025· 2 cited
Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations
Brain Communications·2025Open Access
Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report
Cerebral Circulation - Cognition and Behavior·2025Open Access
ASSESSMENT OF RETINAL ARTERIOLAR TORTUOSITY IN PATIENTS WITH COL4A1 OR COL4A2 MUTATIONS
Retina·2024
Input of exome sequencing in early‐onset cerebral amyloid angiopathy
Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring·2024· 2 citedOpen Access
PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis
Genetic Epidemiology·2024· 2 citedOpen Access
End-truncated CST3 causes severe psychiatric-like symptoms associated with migraine and progressive young-onset dementia
Journal of Neurology·2024· 1 cited
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
European Journal of Human Genetics·2024· 4 citedOpen Access
An AluYa5 Insertion in the 3′UTR of <i>COL4A1</i> and Cerebral Small Vessel Disease
JAMA Network Open·2024· 8 citedOpen Access
PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis
2024Open Access
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice
Journal of Clinical Investigation·2023· 44 citedOpen Access
Estudios genéticos en pacientes y familias con sospecha de enfermedades neurovasculares hereditarias
Kranion·2023Open Access
Pathogenic SCN2A variants are associated with familial and sporadic hemiplegic migraine
Research Square (Research Square)·2023· 4 citedOpen Access
Autosomal recessive systemic microangiopathy associated with<i>FANCL</i>Fanconi anaemia
Journal of Neurology Neurosurgery & Psychiatry·2023· 9 cited
Rare variants in <i>ANO1</i>, encoding a calcium-activated chloride channel, predispose to moyamoya disease
Brain·2023· 21 citedOpen Access
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Frequent Co-authors

Anne Joutel(24), Hugues Chabriat(15), Katayoun Vahedi(14), Anne Ducros(9), Jacqueline Maciazek(9), Valérie Domenga(8), Christian Denier(8), Marie‐Germaine Bousser(7), Pierre Labauge(7), Michaelle Cécillon(6), Florence Riant(6), Jean Weissenbach(5), M G Bousser(5), Françoise Bergametti(5), Marie Germaine Bousser(4), Gwénola Boulday(4), Christophe Corpechot(3), Sonia Alamowitch(3), Emmanuelle Maréchal(3), Céline Vayssière(3)