Aamira Huq

Compound heterozygous <i>FXN</i> mutations and clinical outcome in friedreich ataxia

Charles A. Galea, Aamira Huq, Paul J. Lockhart et al. · Annals of Neurology · 2015 · 149 citations

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

Lei Zhang, Yining Bao, Moeen Riaz et al. · Genetics in Medicine · 2019 · 97 citations · Full text

Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population

Moeen Riaz, Aamira Huq, Joanne Ryan et al. · Aging Cell · 2021 · 42 citations · Full text

Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same

Aamira Huq, Maie Walsh, B Rajagopalan et al. · Familial Cancer · 2018 · 33 citations

Somatic Variant, Genetic Disorder, Genetics +8