Rolfs, Arndt

Top Publications

Top Publications Authored or Co-Authored by "Rolfs, Arndt"

• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

  Human Mutation, Volume 34, No. 5, Year 2013, Citations 116
• AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

  Nature Communications, Volume 8, Article 15910, Year 2017, Citations 58
• Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

  Brain, Volume 144, No. 3, Year 2021, Citations 56
• Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

  American Journal of Human Genetics, Volume 105, No. 4, Year 2019, Citations 52
• Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

  Human Genetics, Volume 137, No. 9, Year 2018, Citations 45