Aisha Al‐Shamsi

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane et al. · European Journal of Human Genetics · 2020 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in<i>COA6</i>cause Cytochrome<i>c</i>Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Fabian Baertling, Mariël A.M. van den Brand, Jozef Hertecant et al. · Human Mutation · 2014 · 82 citations

Life Sciences, Biochemistry, Genetics +15

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Aisha Al‐Shamsi, Jozef Hertecant, Abdul‐Kader Souid et al. · Orphanet Journal of Rare Diseases · 2016 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan et al. · Genetics in Medicine · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

Makanko Komara, Aisha Al‐Shamsi, Salma Ben‐Salem et al. · Journal of Molecular Neuroscience · 2015 · 53 citations

Life Sciences, Genetics, Molecular Genetics +12