Aida I. Al Aqeel

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht et al. · Human Genetics · 2018 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, L Hardman et al. · Human Mutation · 2009 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

Richard G.H. Cotton, Aida I. Al Aqeel, Fahd Al‐Mulla et al. · Genetics in Medicine · 2009 · 42 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

Sue Povey, Aida I. Al Aqeel, Anne Cambon‐Thomsen et al. · Human Mutation · 2010 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Calì et al. · Brain · 2023 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15