Eva H. Brilstra

Also affiliated with University Medical Center Utrecht

Biochemistry, Genetics and Molecular BiologyMedicine

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 14 papers. Top paper: “Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications”.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Brain(2021)10.1093/brain/awab321

N/A

2.9DataRank · unranked

149 citations

Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert +95 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0.596DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147

N/A

0.442DataRank · unranked

18 citations

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

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

medRxiv(2021)10.1101/2021.03.22.21253711

N/A

0.396DataRank · unranked

5 citations

Yuanyuan Liu, Cathrine E. Gjerulfsen, Mahmoud Koko, Lukas Sonnenberg, Julian Schubert +95 more

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.09.434675

N/A

0.165DataRank · unranked

2 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +25 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A -Related Epilepsies

Neurology(2022)10.1212/wnl.0000000000200028

N/A

0DataRank · unranked

73 citations

Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans +17 more

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018

N/A

0DataRank · unranked

93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

Biochemistry and Biophysics Reports(2025)10.1016/j.bbrep.2025.102375

N/A

0DataRank · unranked

0 citations

Sonja Neuser, Gaurav Shrestha, Netra Prasad Neupane, Katharina J. Götze, Nicola Brunetti‐Pierri +26 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

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Human Mutation(2020)10.1002/humu.24015

N/A

0DataRank · unranked

40 citations

Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether, Sara A. Lewis +40 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more