Pfundt, Rolph R.

Top Publications

Top Publications Authored or Co-Authored by "Pfundt, Rolph R."

• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

  Nature Genetics, Volume 44, No. 5, Year 2012, Citations 159
• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

  Molecular Psychiatry, Volume 28, No. 2, Year 2023, Citations 99
• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 97
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85