Amal Hashem

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

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Vandana Gupta, Gianina Ravenscroft, Ranad Shaheen et al. · The American Journal of Human Genetics · 2013 · 164 citations · Full text

Medicine, Genetics, Molecular Biology +14

Mutation in <i>ADAT3</i>, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

Anas M. Alazami, Hadia Hijazi, Mohammed S. Al‐Dosari et al. · Journal of Medical Genetics · 2013 · 129 citations

Life Sciences, Genetics, Molecular Genetics +17

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi et al. · Genome Biology · 2015 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Ranad Shaheen, Miriam Schmidts, Eissa Faqeih et al. · Human Molecular Genetics · 2014 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14