Raveen Basran

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky et al. · The American Journal of Human Genetics · 2017 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy

Hernán Gonorazky, Minggao Liang, Beryl B. Cummings et al. · Annals of Clinical and Translational Neurology · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel de novo <i>PCDH19</i> mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

Seema M. Jamal, Raveen Basran, Stephanie Newton et al. · American Journal of Medical Genetics Part A · 2010 · 55 citations

Life Sciences, Genetics, Molecular Genetics +17

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Iris Cohn, Tara Paton, Christian R. Marshall et al. · npj Genomic Medicine · 2017 · 54 citations · Full text

Medicine, Pharmacology, Medical Genetics +14