Ahmad Abou Tayoun
- A draft human pangenome reference
2023/05/10 by Wen‐Wei Liao, Mobin Asri, Jana Ebler +97 · 78 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genetic Neurodegenerative Diseases #Genomics and Rare Diseases
- Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
2022/11/21 by Vikas Pejaver, Alicia B. Byrne, Bing Feng +27 · 42 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Cancer Genomics and Diagnostics #Genomic variations and chromosomal abnormalities
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
2019/12/31 by Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch +12 · 1 voice · 5 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genetic Associations and Epidemiology #Cancer Genomics and Diagnostics
- A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
2024/12/16 by Fahd Al Qureshah, Jérémie Le Pen, Nicole A. de Weerd +91 · 3 voices · 1 citation
Immunology and Microbiology · #interferon and immune responses #Immune Cell Function and Interaction #Immunodeficiency and Autoimmune Disorders
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
2018/10/11 by Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill +23 · 1 citation
Medicine · Neuroscience · #Ear Surgery and Otitis Media #Hearing, Cochlea, Tinnitus, Genetics