Hasan Tawamie

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert et al. · JAMA Psychiatry · 2017 · 239 citations

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Rebecca Buchert, Hasan Tawamie, Christopher Smith et al. · The American Journal of Human Genetics · 2014 · 127 citations · Full text

Metabolic Syndrome, Cataracts Due, Metabolic Disorder +9

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

Lars Hestbjerg Hansen, Hasan Tawamie, Yoshiko Murakami et al. · The American Journal of Human Genetics · 2013 · 97 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Louise A. Stephen, Hasan Tawamie, Gemma M. Davis et al. · eLife · 2015 · 92 citations · Full text

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda et al. · PLoS Genetics · 2014 · 84 citations · Full text

Genetics, Molecular Biology, Gene Characterization +17