Thiele, Holger

Top Publications

Top Publications Authored or Co-Authored by "Thiele, Holger"

• Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

  Nature Genetics, Volume 45, No. 5, Year 2013, Citations 426
• 2018 ESC/EACTS Guidelines on myocardial revascularization

  European Journal of Cardio-thoracic Surgery, Volume 55, No. 1, Year 2019, Citations 420
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Nature Genetics, Volume 49, No. 2, Year 2017, Citations 89
• Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

  Genetics in Medicine, Volume 23, No. 9, Year 2021, Citations 66
• Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

  American Journal of Human Genetics, Volume 103, No. 3, Year 2018, Citations 39