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
Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD.
Gut
Hu, Shixian S; Vich Vila, Arnau A; Gacesa, Ranko R; Collij, Valerie V; Stevens, Christine C; Fu, Jack M JM; Wong, Isaac I; Talkowski, Michael E ME; Rivas, Manuel A MA; Imhann, Floris F; Bolte, Laura L; van Dullemen, Hendrik H; Dijkstra, Gerard G; Visschedijk, Marijn C MC; Festen, Eleonora A EA; Xavier, Ramnik J RJ; Fu, Jingyuan J; Daly, Mark J MJ; Wijmenga, Cisca C; Zhernakova, Alexandra A; Kurilshikov, Alexander A; Weersma, Rinse K RK
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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 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.
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
Genetic dissection of the pre-eclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease.
Molecular Human Reproduction
Johnson, Matthew P MP; Brennecke, Shaun P SP; East, Christine E CE; Dyer, Thomas D TD; Roten, Linda T LT; Proffitt, J Michael JM; Melton, Phillip E PE; Fenstad, Mona H MH; Aalto-Viljakainen, Tia T; Mäkikallio, Kaarin K; Heinonen, Seppo S; Kajantie, Eero E; Kere, Juha J; Laivuori, Hannele H; , ; Austgulen, Rigmor R; Blangero, John J; Moses, Eric K EK
Gender differences in genetic risk profiles for cardiovascular disease.
Plos One
Silander, Kaisa K; Alanne, Mervi M; Kristiansson, Kati K; Saarela, Olli O; Ripatti, Samuli S; Auro, Kirsi K; Karvanen, Juha J; Kulathinal, Sangita S; Niemelä, Matti M; Ellonen, Pekka P; Vartiainen, Erkki E; Jousilahti, Pekka P; Saarela, Janna J; Kuulasmaa, Kari K; Evans, Alun A; Perola, Markus M; Salomaa, Veikko V; Peltonen, Leena L