Desvignes, Jean Pierre

Top Publications

Top Publications Authored or Co-Authored by "Desvignes, Jean Pierre"

• PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

  Brain, Volume 138, No. 6, Year 2015, Citations 60
• The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

  PLoS Genetics, Volume 10, No. 5, Article e1004311, Year 2014, Citations 36
• The added value of WES reanalysis in the field of genetic diagnosis: Lessons learned from 200 exomes in the Lebanese population

  BMC Medical Genomics, Volume 12, No. 1, Article 11, Year 2019, Citations 24
• Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

  Human Molecular Genetics, Volume 28, No. 14, Article ddz060, Year 2019, Citations 16
• Clinical profile of comorbidity of rare diseases in a Tunisian patient: A case report associating incontinentia pigmenti and Noonan syndrome

  BMC Pediatrics, Volume 18, No. 1, Article 286, Year 2018, Citations 14