Al-Aama, Jumana Yousuf

Top Publications

Top Publications Authored or Co-Authored by "Al-Aama, Jumana Yousuf"

• An integrated catalog of reference genes in the human gut microbiome

  Nature Biotechnology, Volume 32, No. 8, Year 2014, Citations 1574
• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Mutations in the pre-replication complex cause Meier-Gorlin syndrome

  Nature Genetics, Volume 43, No. 4, Year 2011, Citations 249
• Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

  Nature Communications, Volume 9, No. 1, Article 4234, Year 2018, Citations 147
• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

  European Journal of Human Genetics, Volume 20, No. 6, Year 2012, Citations 102