Tawfeg Ben‐Omran

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Dora C. Tărlungeanu, Elena Deliu, Christoph Dotter et al. · Cell · 2016 · 364 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16

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

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa et al. · Science Translational Medicine · 2012 · 258 citations

Life Sciences, Genetics, Molecular Genetics +16

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang et al. · Nature Genetics · 2015 · 216 citations · Full text

Life Sciences, Genetics, Neuroscience +14