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
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.
Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus.
Human Genetics
Plotnikov, Denis D; Shah, Rupal L RL; Rodrigues, Jamille N JN; Cumberland, Phillippa M PM; Rahi, Jugnoo S JS; Hysi, Pirro G PG; Atan, Denize D; Williams, Cathy C; Guggenheim, Jeremy A JA; ,
Host Genetic Variant in CXCL16 May Be Associated With Hepatitis B Virus-Related Acute Liver Failure.
Cellular And Molecular Gastroenterology And Hepatology
Ajmera, Veeral V; Huang, Hailiang H; Dao, Doan D; Feld, Jordan J JJ; Lau, Daryl T DT; Patel, Keyur K; Rule, Jody A JA; Daly, Mark M; Lee, William M WM; Chung, Raymond T RT
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Structural variants caused by Alu insertions are associated with risks for many human diseases.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Payer, Lindsay M LM; Steranka, Jared P JP; Yang, Wan Rou WR; Kryatova, Maria M; Medabalimi, Sibyl S; Ardeljan, Daniel D; Liu, Chunhong C; Boeke, Jef D JD; Avramopoulos, Dimitri D; Burns, Kathleen H KH
Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour.
Scientific Reports
Wollstein, Andreas A; Walsh, Susan S; Liu, Fan F; Chakravarthy, Usha U; Rahu, Mati M; Seland, Johan H JH; Soubrane, Gisèle G; Tomazzoli, Laura L; Topouzis, Fotis F; Vingerling, Johannes R JR; Vioque, Jesus J; Böhringer, Stefan S; Fletcher, Astrid E AE; Kayser, Manfred M
Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Digital quantification of human eye color highlights genetic association of three new loci.
Plos Genetics
Liu, Fan F; Wollstein, Andreas A; Hysi, Pirro G PG; Ankra-Badu, Georgina A GA; Spector, Timothy D TD; Park, Daniel D; Zhu, Gu G; Larsson, Mats M; Duffy, David L DL; Montgomery, Grant W GW; Mackey, David A DA; Walsh, Susan S; Lao, Oscar O; Hofman, Albert A; Rivadeneira, Fernando F; Vingerling, Johannes R JR; Uitterlinden, André G AG; Martin, Nicholas G NG; Hammond, Christopher J CJ; Kayser, Manfred M
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
American Journal Of Human Genetics
Guernsey, Duane L DL; Jiang, Haiyan H; Evans, Susan C SC; Ferguson, Meghan M; Matsuoka, Makoto M; Nightingale, Mathew M; Rideout, Andrea L AL; Provost, Sylvie S; Bedard, Karen K; Orr, Andrew A; Dubé, Marie-Pierre MP; Ludman, Mark M; Samuels, Mark E ME