Al-Saffar, Muna

Top Publications

Top Publications Authored or Co-Authored by "Al-Saffar, Muna"

• Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract

  Journal of the American Society of Nephrology, Volume 29, No. 9, Year 2018, Citations 129
• Katanin p80 regulates human cortical development by limiting centriole and cilia number

  Urology, Volume 84, No. 6, Year 2014, Citations 82
• Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

  American Journal of Human Genetics, Volume 96, No. 5, Year 2015, Citations 65
• Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

  Proceedings of the National Academy of Sciences of the United States of America, Volume 113, No. 38, Year 2016, Citations 46
• METTL23, a transcriptional partner of GABPA, is essential for human cognition

  Human Molecular Genetics, Volume 23, No. 13, Article ddu054, Year 2014, Citations 41