A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.
Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09
Variant appearance in text: COQ4: 202G>C; Asp68His
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
Molecular Genetics And Metabolism Reports
Sondheimer, Neal N; Hewson, Stacy S; Cameron, Jessie M JM; Somers, Gino R GR; Broadbent, Jane Dunning JD; Ziosi, Marcello M; Quinzii, Catarina Maria CM; Naini, Ali B AB
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Farwell Hagman, Kelly D KD; Shinde, Deepali N DN; Mroske, Cameron C; Smith, Erica E; Radtke, Kelly K; Shahmirzadi, Layla L; El-Khechen, Dima D; Powis, Zöe Z; Chao, Elizabeth C EC; Alcaraz, Wendy A WA; Helbig, Katherine L KL; Sajan, Samin A SA; Rossi, Mari M; Lu, Hsiao-Mei HM; Huether, Robert R; Li, Shuwei S; Wu, Sitao S; Nuñes, Mark E ME; Tang, Sha S