Yvonne Weber

Health ProfessionsBiochemistry, Genetics and Molecular BiologyComputer Science

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: “Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies”.

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.003

N/A

0DataRank · unranked

46 citations

Shiva Ganesan, David Lewis‐Smith, Sarah McKeown, Manuela Pendziwiat, Katherine L. Helbig +13 more

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Brain(2020)10.1093/brain/awaa085

N/A

0DataRank · unranked

32 citations

Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz +40 more

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.009

N/A

0DataRank · unranked

60 citations

Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng +95 more

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

N/A

0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 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

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Brain(2021)10.1093/brain/awab409

N/A

0DataRank · unranked

17 citations

Jolien Roovers, Noor Smal, Candace T. Myers, Dilşad Türkdoğan, Filip Roelens +29 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

Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.03.471090

N/A

0DataRank · unranked

2 citations

Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven +6 more

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Neurology(2022)10.1212/wnl.0000000000200715

N/A

0DataRank · unranked

58 citations

David Crosiers, Ganna Balagura, Claudia Bonardi, Anna Basu, Gaetano Cantalupo +36 more

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

EBioMedicine(2022)10.1016/j.ebiom.2022.104234

N/A

0DataRank · unranked

30 citations

Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven +8 more

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Neurology(2022)10.1212/wnl.0000000000200660

N/A

0DataRank · unranked

21 citations

Simone Seiffert, Manuela Pendziwiat, Annika Rademacher, Tobias Brünger, Ulrike B. S. Hedrich +43 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

Brain malformations and seizures by impaired chaperonin function of TRiC

Science(2024)10.1126/science.adp8721

N/A

0DataRank · unranked

24 citations

Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil K. Zajt, Dimah Hasan +82 more

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 more