Rauch, Anita M.

Top Publications

Top Publications Authored or Co-Authored by "Rauch, Anita M."

• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

  Science, Volume 319, No. 5864, Year 2008, Citations 382
• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Nature Genetics, Volume 43, No. 1, Year 2011, Citations 233
• Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

  Genetics in Medicine, Volume 20, No. 9, Year 2018, Citations 80
• Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

  Brain, Volume 141, No. 7, Year 2018, Citations 70
• Developmental consequences of defective Atg7-mediated autophagy in humans

  New England Journal of Medicine, Volume 384, No. 25, Year 2021, Citations 70