Amira Masri

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

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

Shams Anazi, Sateesh Maddirevula, Eissa Faqeih et al. · Molecular Psychiatry · 2016 · 260 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15

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