Samuel F. Berkovic

Also affiliated with Austin Health

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 7%percentile

0.165Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Papers

Driven by 33 papers — median percentile 30. Top paper: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals”.

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications(2023)10.1038/s41467-023-39539-6

N/A

1.2DataRank · unranked

56 citations

David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian +94 more

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Brain(2021)10.1093/brain/awab260

N/A

0.626DataRank · unranked

64 citations

João Fadista, Jonas Bybjerg‐Grauholm, Vivek Appadurai, Michael S. Hildebrand, Thomas Folkmann Hansen +34 more

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0.489DataRank · unranked

25 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

medRxiv(2020)10.1101/2020.11.18.20233916

N/A

0.208DataRank · unranked

3 citations

João Fadista, Jonas Bybjerg‐Grauholm, Vivek Appadurai, Michael S. Hildebrand, Thomas Folkmann Hansen +34 more

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

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

Epilepsia(2020)10.1111/epi.16732

N/A

0DataRank · unranked

7 citations

Ruth Ottman, Michael P. Epstein, Samuel F. Berkovic, Colin A. Ellis

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.013

N/A

0DataRank · unranked

86 citations

Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona +34 more

The severe epilepsy syndromes of infancy: A population‐based study

Epilepsia(2021)10.1111/epi.16810

N/A

0DataRank · unranked

67 citations

Jeremy L. Freeman, Mark T. Mackay, Michael Fahey, John S. Archer, Samuel F. Berkovic +24 more

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy

Brain(2021)10.1093/brain/awab145

N/A

0DataRank · unranked

48 citations

Chaseley E. McKenzie, Ming S. Soh, Ian C. Forster, Paulo Pinares-Garcia, Alicia Sedó +10 more

Postictal Psychosis in Epilepsy: A Clinicogenetic Study

Annals of Neurology(2021)10.1002/ana.26174

N/A

0DataRank · unranked

32 citations

Helena Martins Custodio, Costin Leu, Luigi Agrò, Baihan Wang, Stella Calafato +15 more

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Brain Communications(2021)10.1093/braincomms/fcab245

N/A

0DataRank · unranked

32 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +53 more

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

Human Molecular Genetics(2021)10.1093/hmg/ddab366

N/A

0DataRank · unranked

20 citations

Joshua E. Motelow, Mark F. Bennett, Zimeng Ye, Caitlin A. Bennett, Nicole G. Griffin +17 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147

N/A

0DataRank · unranked

18 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +32 more

Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies

medRxiv(2021)10.1101/2021.04.20.21255696

N/A

0DataRank · unranked

3 citations

Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway +17 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171

N/A

0DataRank · unranked

81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

Epilepsia(2022)10.1111/epi.17332

N/A

0DataRank · unranked

144 citations

Ingo Helbig, Cameron S. Metcalf, Laura S. Lubbers, Lori L. Isom, Scott Demarest +8 more

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

EBioMedicine(2022)10.1016/j.ebiom.2022.104079

N/A

0DataRank · unranked

41 citations

Colin A. Ellis, Ingrid E Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir +12 more

Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy

Brain(2022)10.1093/brain/awac082

N/A

0DataRank · unranked

23 citations

Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino +27 more

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

EBioMedicine(2022)10.1016/j.ebiom.2022.104244

N/A

0DataRank · unranked

21 citations

Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway +17 more

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.08.020

N/A

0DataRank · unranked

10 citations

Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben‐Zeev, Samuel F. Berkovic +39 more

Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

medRxiv(2022)10.1101/2022.12.23.22283854

N/A

0DataRank · unranked

5 citations

Yilan Wang, Yasmine Chahine, E. Zeynep Erson‐Omay, Stephanie M. Robert, Emre Kiziltug +36 more

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature Genetics(2023)10.1038/s41588-023-01485-w

N/A

0DataRank · unranked

217 citations

Ciarán Campbell, Siwei Chen, Bassel Abou‐Khalil, Oluyomi M. Adesoji, Zaid Afawi +95 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families

EBioMedicine(2024)10.1016/j.ebiom.2024.105404

N/A

0DataRank · unranked

30 citations

Ingrid E Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Zaid Afawi, Dina Amrom +43 more

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS)

Annals of Neurology(2024)10.1002/ana.27041

N/A

0DataRank · unranked

18 citations

Karen Oliver, Brigid M. Regan, Amy Schneider, Candace T. Myers, Michele G. Mehaffey +22 more

Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.014

N/A

0DataRank · unranked

13 citations

Karen Oliver, Rebekah V. Harris, Ruth Ottman, Ingrid E Scheffer, Heather C Mefford +4 more

Familial aggregation of seizure outcomes in four familial epilepsy cohorts

Epilepsia(2024)10.1111/epi.18004

N/A

0DataRank · unranked

1 citations

Danni Tu, Karen Oliver, Heather C. Mefford, W. Allen Hauser, Jeffrey Buchhalter +5 more

Genome-wide association meta-analyses of drug-resistant epilepsy

EBioMedicine(2025)10.1016/j.ebiom.2025.105675

N/A

0DataRank · unranked

12 citations

Andreja Avberšek, Remi Stevelink, Helena Martins Custodio, Siwei Chen, Doug Speed +88 more

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

medRxiv(2021)10.1101/2021.06.01.21257500

N/A

0DataRank · unranked

0 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +21 more

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

Epilepsy risk in offspring of affected parents; a cohort study of the “maternal effect” in epilepsy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51258

N/A

0DataRank · unranked

21 citations

Colin A. Ellis, Samuel F. Berkovic, Chris Cotsapas, Ruth Ottman, Jakob Christensen +1 more

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Neuron(2020)10.1016/j.neuron.2020.01.027

N/A

0DataRank · unranked

35 citations

Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao +26 more

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Epilepsia(2020)10.1111/epi.16475

N/A

0DataRank · unranked

24 citations

Guillem de Valles‐Ibáñez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson +8 more

Samuel F. Berkovic

Indexed papers

Top data-sharing exemplar

Papers