Alfaifi, Abdullah Y.

Top Publications

Top Publications Authored or Co-Authored by "Alfaifi, Abdullah Y."

• 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 morbid genome of ciliopathies: an update

  Genetics in Medicine, Volume 22, No. 6, Year 2020, Citations 67
• Lethal variants in humans: lessons learned from a large molecular autopsy cohort

  Genome Medicine, Volume 13, No. 1, Article 161, Year 2021, Citations 34
• Congenital disorders of glycosylation: The Saudi experience

  American Journal of Medical Genetics, Part A, Volume 173, No. 10, Year 2017, Citations 33
• Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

  European Journal of Human Genetics, Volume 28, No. 11, Year 2020, Citations 30