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
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
PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity.
Journal Of Lipid Research
Kim, Daniel Seung DS; Burt, Amber A AA; Ranchalis, Jane E JE; Vuletic, Simona S; Vaisar, Tomas T; Li, Wan-Fen WF; Rosenthal, Elisabeth A EA; Dong, Weijiang W; Eintracht, Jason F JF; Motulsky, Arno G AG; Brunzell, John D JD; Albers, John J JJ; Furlong, Clement E CE; Jarvik, Gail P GP
Genetic and nongenetic sources of variation in phospholipid transfer protein activity.
Journal Of Lipid Research
Jarvik, Gail P GP; Rajagopalan, Ramakrishnan R; Rosenthal, Elisabeth A EA; Wolfbauer, Gertrud G; McKinstry, Laura L; Vaze, Aditya A; Brunzell, John J; Motulsky, Arno G AG; Nickerson, Deborah A DA; Heagerty, Patrick J PJ; Wijsman, Ellen M EM; Albers, John J JJ
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia.
Metabolism: Clinical And Experimental
Engler, Mary B MB; Pullinger, Clive R CR; Malloy, Mary J MJ; Natanzon, Yanina Y; Kulkarni, Medha V MV; Song, James J; Eng, Celeste C; Huuskonen, Jaarko J; Rivera, Christopher C; Poon, Annie A; Bensley, Matt M; Sehnert, Amy A; Zellner, Christian C; Kane, John J; Aouizerat, Bradley E BE