A-star, Institute of Medical Biology

Top Publications

Top Publications Authored or Co-Authored in "A-star, Institute of Medical Biology"

• Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

  Cell, Volume 167, No. 1, Year 2016, Citations 298
• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Nature Genetics, Volume 49, No. 2, Year 2017, Citations 89
• 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
• Katanin p80 regulates human cortical development by limiting centriole and cilia number

  Urology, Volume 84, No. 6, Year 2014, Citations 82