Iman G. Mahmoud

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

Life Sciences, Genetics, Neuroscience +17

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Simon Jones, Vassili Valayannopoulos, Eugene Schneider et al. · Genetics in Medicine · 2015 · 117 citations · Full text

Medicine, Pathology, Pediatrics +15

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study

Fatma El‐Mougy, Sahar Sharaf, Iman Mandour et al. · Journal of Medical Screening · 2016 · 71 citations · Full text

Medicine, Biochemistry, Pediatrics +15

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen et al. · European Journal of Human Genetics · 2018 · 69 citations · Full text

Life Sciences, Genetics, Neuroscience +16