Caberg, Jean Hubert D.

Top Publications

Top Publications Authored or Co-Authored by "Caberg, Jean Hubert D."

• 16p13.11 microduplication in 45 new patients: Refined clinical significance and genotype-phenotype correlations

  Journal of Medical Genetics, Volume 57, No. 5, Year 2020, Citations 45
• Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

  BMC Medical Genetics, Volume 15, No. 1, Article 79, Year 2014, Citations 19
• Pattern of congenital heart diseases in Rwandan children with genetic defects

  Pan African Medical Journal, Volume 19, Article 85, Year 2014, Citations 14
• VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

  European Journal of Medical Genetics, Volume 62, No. 8, Article 103704, Year 2019, Citations 12
• Genetic diagnosis of duchenne and becker muscular dystrophy using multiplex ligation-dependent probe amplification in rwandan patients

  Journal of Tropical Pediatrics, Volume 60, No. 2, Article fmt090, Year 2014, Citations 9