Olivia Henry

About me
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About me

Our team is specialised in rare disease diagnostics, with a particular focus on genomics including whole genome sequencing. I am currently investigating the utility of clinical whole genome sequencing in paediatric epilepsy, as well the phenotypic and genetic spectrum in this cohort.

Research

-Genotype- phenotype correlations
-Genetic epilepsies
-Developmental and epileptic encephalopathies
-Deep phenotyping
-Standardised documentation of clinical data

Articles

Journal article: EPILEPSIA. 2024;65(3):792-804

The role of copy number variants in the genetic architecture of common familial epilepsies.

Epi4K Consortium
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023;11(7):e2167

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.

Henry OJ; Stödberg T; Båtelson S; Rasi C; Stranneheim H; Wedell A
Article: EPILEPSIA. 2022;63(8):2096-2107

Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based study.

Stödberg T; Tomson T; Anderlid B-M; Andersson T; Henry O; Åmark P; Wedell A
Journal article: EBIOMEDICINE. 2022;81:104079

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.

Oliver KL; Ellis CA; Scheffer IE; Ganesan S; Leu C; Sadleir LG; Heinzen EL; Mefford HC; Bass AJ; Curtis SW; Harris RV; Epi4K Consortium; Whiteman DC; Helbig I; Ottman R; Epstein MP; Bahlo M; Berkovic SF
Journal article: NEUROLOGY-GENETICS. 2022;8(1):e0652

Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.

Bennett MF; Hildebrand MS; Kayumi S; Corbett MA; Gupta S; Ye Z; Krivanek M; Burgess R; Henry OJ; Damiano JA; Boys A; Gécz J; Bahlo M; Scheffer IE; Berkovic SF
Journal article: JOURNAL OF NEUROLOGY. 2021;268(8):2671-2675

Intravenous immunoglobulin therapy in COVID-19-related encephalopathy.

Muccioli L; Pensato U; Bernabè G; Ferri L; Tappatà M; Volpi L; Cani I; Henry OJ; Ceccaroni F; Cevoli S; Stofella G; Pasini E; Fornaro G; Tonon C; Vidale S; Liguori R; Tinuper P; Michelucci R; Cortelli P; Bisulli F
Journal article: EPILEPSIA. 2020;61(12):2667-2674

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors.

Ellis CA; Ottman R; Epstein MP; Berkovic SF; Epi4K Consortium
Journal article: ANNALS OF NEUROLOGY. 2020;87(1):132-138

The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence.

Ellis CA; Berkovic SF; Epstein MP; Ottman R; Epi4K Consortium
Journal article: ANNALS OF NEUROLOGY. 2019;86(1):91-98

Epilepsy in families: Age at onset is a familial trait, independent of syndrome.

Ellis CA; Churilov L; Epstein MP; Xie SX; Bellows ST; Ottman R; Berkovic SF; Epi4K Consortium

All other publications

Preprint: BIORXIV. 2021

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

Riva M; Ferreira S; Medvedeva VP; Causeret F; Henry OJ; Roux C-J; Bellesme C; Freri E; Parrini E; Josifova D; Guerrini R; Bahi-Buisson N; Pierani A

Employments

Phd Student, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025
Research Assistant, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2020-2022
Clinical Research Assistant, Department of Medicine, University of Melbourne, 2017-2019

About me

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Articles

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