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 · 350 citations · Full text

Neurodevelopmental Disorders, Blood Brain Barrier, Biochemistry +12

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa et al. · Science Translational Medicine · 2012 · 256 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +18

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 · 254 citations

Intellectual Impairment, Medicine, Genetics +6

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 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

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 · 209 citations · Full text

Molecular Neuroscience, Omega-3 Fatty Acid, Physiology +7