Hamad, Muddathir A.

Top Publications

Top Publications Authored or Co-Authored by "Hamad, Muddathir A."

• Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

  American Journal of Human Genetics, Volume 104, No. 6, Year 2019, Citations 100
• The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

  Human Genetics, Volume 136, No. 8, Year 2017, Citations 100
• Genomic and phenotypic delineation of congenital microcephaly

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 81
• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

  Acta Neuropathologica, Volume 139, No. 3, Year 2020, Citations 69
• Expanding the phenome and variome of skeletal dysplasia

  Genetics in Medicine, Volume 20, No. 12, Year 2018, Citations 56