Ziegler, Alban

Top Publications

Top Publications Authored or Co-Authored by "Ziegler, Alban"

• Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 75
• Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

  American Journal of Human Genetics, Volume 107, No. 5, Year 2020, Citations 42
• TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

  Nature Communications, Volume 14, No. 1, Article 1009, Year 2023, Citations 41
• Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

  Frontiers in Neurology, Volume 12, Article 602979, Year 2021, Citations 11
• ZNF668 deficiency causes a recognizable disorder of DNA damage repair

  Human Genetics, Volume 140, No. 9, Year 2021, Citations 10