Using Whole-Exome Sequencing to Identify Inherited Causes of AutismTimothy W. Yu, Christopher A. Walsh, Klaus Schmitz‐Abe et al.|Neuron|2013Cited by 459
Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathyOzge Ceyhan‐Birsoy, Alan H. Beggs, Pankaj B. Agrawal et al.|Neurology|2013Cited by 217
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A. Deisseroth, Gill Bejerano, Johannes Birgmeier et al.|Genetics in Medicine|2018Cited by 113
Biallelic mutations in human DCC cause developmental split-brain syndromeSaumya Shekhar Jamuar, Timothy W. Yu, Klaus Schmitz‐Abe et al.|Nature Genetics|2017Cited by 79
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomesKlaus Schmitz‐Abe, Pankaj B. Agrawal, Qifei Li et al.|European Journal of Human Genetics|2019Cited by 75