Rani Sachdev

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Lisa Ewans, Deborah Schofield, Rupendra Shrestha et al. · Genetics in Medicine · 2018 · 191 citations

Functional Genomics, Sequencing, Mendelian Disorder +11

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell et al. · Cell · 2018 · 144 citations · Full text

Phenotypic insights into <i>ADCY5</i>‐associated disease

Florence Chang, Ana Westenberger, Russell C. Dale et al. · Movement Disorders · 2016 · 121 citations · Full text

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Lisa Ewans, André E. Minoche, Deborah Schofield et al. · European Journal of Human Genetics · 2022 · 110 citations · Full text

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha et al. · Molecular Genetics & Genomic Medicine · 2018 · 109 citations · Full text