Amr Al‐Saif

A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis

Amr Al‐Saif, Futwan Al‐Mohanna, Saeed Bohlega · Annals of Neurology · 2011 · 419 citations

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

Sheikh Riazuddin, Norann A. Zaghloul, Amr Al‐Saif et al. · The American Journal of Human Genetics · 2010 · 185 citations · Full text

Missense Mutations, Chromosome 9P, Genetic Disorder +6

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Anas M. Alazami, Amr Al‐Saif, Abdulaziz Alsemari et al. · The American Journal of Human Genetics · 2008 · 136 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya

S. Amer Riazuddin, Eranga N. Vithana, Li Fong Seet et al. · Human Mutation · 2010 · 130 citations · Full text

Missense Mutations, Ocular Disease, Developmental Biology +15

Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at <i>phox2b</i>

David McGaughey, Ryan M. Vinton, Jimmy Huynh et al. · Genome Research · 2007 · 113 citations · Full text

Sequence Constraint, Genetics, Molecular Biology +24