A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population.
Biomed Research International
Wisnumurti, Dewi A DA; Sribudiani, Yunia Y; Porsch, Robert M RM; Maskoen, Ani M AM; Abdulhamied, Lola I LI; Rahayuningsih, Sri E SE; Asni, Eni K EK; Sleutels, Frank F; Kockx, Christel E M CEM; van Ijcken, Wilfred F J WFJ; Sukadi, Abdurachman A; Achmad, Tri H TH
Characterization of ADME gene variation in 21 populations by exome sequencing.
Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
A novel UGT1 marker associated with better tolerance against irinotecan-induced severe neutropenia in metastatic colorectal cancer patients.
The Pharmacogenomics Journal
Chen, S S; Laverdiere, I I; Tourancheau, A A; Jonker, D D; Couture, F F; Cecchin, E E; Villeneuve, L L; Harvey, M M; Court, M H MH; Innocenti, F F; Toffoli, G G; Lévesque, E E; Guillemette, C C
Comprehensive variant screening of the UGT gene family.
Yonsei Medical Journal
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD