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
Recipient and donor PTX3 rs2305619 polymorphisms increase the susceptibility to invasive fungal disease following haploidentical stem cell transplantation: a prospective study.
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Validation of single nucleotide polymorphisms in invasive aspergillosis following hematopoietic cell transplantation.
Blood
Fisher, Cynthia E CE; Hohl, Tobias M TM; Fan, Wenhong W; Storer, Barry E BE; Levine, David M DM; Zhao, Lu Ping LP; Martin, Paul J PJ; Warren, Edus H EH; Boeckh, Michael M; Hansen, John A JA
Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes.
Human Molecular Genetics
Zhang, Xiaoling X; Johnson, Andrew D AD; Hendricks, Audrey E AE; Hwang, Shih-Jen SJ; Tanriverdi, Kahraman K; Ganesh, Santhi K SK; Smith, Nicholas L NL; Peyser, Patricia A PA; Freedman, Jane E JE; O'Donnell, Christopher J CJ
Gender-specific effects of genetic variants within Th1 and Th17 cell-mediated immune response genes on the risk of developing rheumatoid arthritis.
Plos One
Cáliz, Rafael R; Canet, Luz María LM; Lupiañez, Carmen Belén CB; Canhão, Helena H; Escudero, Alejandro A; Filipescu, Ileana I; Segura-Catena, Juana J; Soto-Pino, María José MJ; Expósito-Ruiz, Manuela M; Ferrer, Miguel Ángel MÁ; García, Antonio A; Romani, Lurdes L; González-Utrilla, Alfonso A; Vallejo, Teresa T; Pérez-Pampin, Eva E; Hemminki, Kari K; Försti, Asta A; Collantes, Eduardo E; Fonseca, João Eurico JE; Sainz, Juan J
Dectin-1 and DC-SIGN polymorphisms associated with invasive pulmonary Aspergillosis infection.
Plos One
Sainz, Juan J; Lupiáñez, Carmen Belén CB; Segura-Catena, Juana J; Vazquez, Lourdes L; Ríos, Rafael R; Oyonarte, Salvador S; Hemminki, Kari K; Försti, Asta A; Jurado, Manuel M