Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Andreas Gnirke, Alexandre Melnikov, Jared Maguire et al. · Nature Biotechnology · 2009 · 1.5K citations · Full text

Engineering, Genetics, Molecular Biology +16

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 462 citations · Full text

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau et al. · Nature Genetics · 2013 · 436 citations

Neuropsychology, Language Disorder, Grin2a Mutations +11

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn Menten · Journal of Medical Genetics · 2006 · 416 citations · Full text