Olivia Henry

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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: JOURNAL OF CLINICAL INVESTIGATION. 2024;134(16):e153097
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism
Riva M; Ferreira S; Hayashi K; Saillour Y; Medvedeva VP; Honda T; Hayashi K; Altersitz C; Albadri S; Rosello M; Dang J; Serafini M; Causeret F; Henry OJ; Roux C-J; Bellesme C; Freri E; Josifova D; Parrini E; Guerrini R; Del Bene F; Nakajima K; Bahi-Buisson N; Pierani A
Journal article: EPILEPSIA. 2024;65(7):2030-2040
Familial aggregation of seizure outcomes in four familial epilepsy cohorts
Ellis CA; Tu D; Oliver KL; Mefford HC; Hauser WA; Buchhalter J; Epstein MP; Cao Q; Berkovic SF; Ottman R
Journal article: EPILEPSIA. 2024;65(3):792-804
The role of copy number variants in the genetic architecture of common familial epilepsies
Fuerte EPA; Nguyen J; Mehaffey M; Sulovari A; Wang T; Galey M; Miller DE; Eichler EE; Mefford HC; Abou-Khalil B; Afawi ZA; Allen AS; Amrom D; Andermann E; Bautista JF; Bellows ST; Berkovic SF; Bluvstein J; Boro A; Burgess R; Cascino GD; Chung S-K; Consalvo D; Cossette P; Crompton DE; Crumrine P; Curtis SW; Delanty N; Devinsky O; Dlugos D; Ellis CA; Epstein MP; Fiol M; Fountain NB; Freyer C; Friedman D; Geller EB; Glauser T; Glynn S; Goldstein DB; Gravel M; Haas K; Harris RV; Haut S; Heinzen EL; Helmers S; Henry OJ; Joshi S; Kirsch HE; Kivity S; Knowlton RC; Kossoff E; Kuzniecky R; Loeb R; Lowenstein DH; Marson AG; McCormack M; McGuire SM; McKenna K; Motika PV; Mullen SA; Novotny EJ; O'Brien TJ; Oliver KL; Ottman R; Paolicchi JM; Parent JM; Park KL; Paterson SJ; Petrovski S; Pickrell WO; Poduri A; Rees MI; Sadleir LG; Scheffer IE; Shellhaas RA; Sherr EH; Shih JJ; Shinnar S; Singh RK; Sirven J; Smith MC; Smith PEM; Sperling MR; Sullivan J; Thio LL; Thomas RH; Venkat A; Vining EPG; Von Allmen GK; Weisenberg J; Widdess-Walsh P; Winawer MR
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; Stodberg T; Batelson 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
Stodberg T; Tomson T; Anderlid B-M; Andersson T; Henry O; Amark 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; 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; Gecz 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; Bernabe G; Ferri L; Tappata 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
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
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

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, 2022-2026
Clinical Research Assistant, Department of Medicine, University of Melbourne, 2017-2019

About me

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