Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14
Variant appearance in text: CETP: S221R; rs201438792
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: CETP: 663C>A; Ser221Arg
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.
Genetic Epidemiology
Hellwege, Jacklyn N JN; Palmer, Nicholette D ND; Raffield, Laura M LM; Ng, Maggie C Y MC; Hawkins, Gregory A GA; Long, Jirong J; Lorenzo, Carlos C; Norris, Jill M JM; Ida Chen, Y-D YD; Speliotes, Elizabeth K EK; Rotter, Jerome I JI; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Bowden, Donald W DW
Publication Date: 2014-05
Variant appearance in text: CETP: S221R; rs201438792