Pendziwiat, Manuela

Top Publications

Top Publications Authored or Co-Authored by "Pendziwiat, Manuela"

• Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

  Nature Communications, Volume 10, No. 1, Article 4920, Year 2019, Citations 98
• Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

  American Journal of Human Genetics, Volume 108, No. 12, Year 2021, Citations 40
• Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

  Neurogenetics, Volume 22, No. 2, Year 2021, Citations 8
• GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

  Nature Genetics, Volume 55, No. 9, Year 2023, Citations 3
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

  Nature Communications, Volume 14, No. 1, Article 4392, Year 2023, Citations 2