Dorison, Nathalie

Top Publications

Top Publications Authored or Co-Authored by "Dorison, Nathalie"

• KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

  Brain, Volume 143, No. 11, Year 2020, Citations 100
• Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

  Human Genetics, Volume 137, No. 9, Year 2018, Citations 45
• A case of fatal Type i congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

  Orphanet Journal of Rare Diseases, Volume 11, No. 1, Article 84, Year 2016, Citations 44
• The intellectual disability of trisomy 21: Differences in gene expression in a case series of patients with lower and higher IQ

  European Journal of Human Genetics, Volume 21, No. 11, Year 2013, Citations 27
• Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: A distinct syndrome

  American Journal of Medical Genetics, Part A, Volume 152, No. 9, Year 2010, Citations 6