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
Publication Date: 2021-01-08
Variant appearance in text: KLK1: 405T>C; D135D; rs1054713
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
Publication Date: 2019-10-09
Variant appearance in text: KLK1: D135D; rs1054713
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: KLK1: D135D; rs1054713
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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.
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
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
Publication Date: 2015-12-08
Variant appearance in text: KLK1: D135D; rs1054713
Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.
Plos One
Malinowski, Jennifer R JR; Denny, Joshua C JC; Bielinski, Suzette J SJ; Basford, Melissa A MA; Bradford, Yuki Y; Peissig, Peggy L PL; Carrell, David D; Crosslin, David R DR; Pathak, Jyotishman J; Rasmussen, Luke L; Pacheco, Jennifer J; Kho, Abel A; Newton, Katherine M KM; Li, Rongling R; Kullo, Iftikhar J IJ; Chute, Christopher G CG; Chisholm, Rex L RL; Jarvik, Gail P GP; Larson, Eric B EB; McCarty, Catherine A CA; Masys, Daniel R DR; Roden, Dan M DM; de Andrade, Mariza M; Ritchie, Marylyn D MD; Crawford, Dana C DC
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
Publication Date: 2014
Variant appearance in text: KLK1: D135D; rs1054713
Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans.
The Journal Of Clinical Investigation
Liu, Kui K; Li, Quan-Zhen QZ; Delgado-Vega, Angelica M AM; Abelson, Anna-Karin AK; Sánchez, Elena E; Kelly, Jennifer A JA; Li, Li L; Liu, Yang Y; Zhou, Jinchun J; Yan, Mei M; Ye, Qiu Q; Liu, Shenxi S; Xie, Chun C; Zhou, Xin J XJ; Chung, Sharon A SA; Pons-Estel, Bernardo B; Witte, Torsten T; de Ramón, Enrique E; Bae, Sang-Cheol SC; Barizzone, Nadia N; Sebastiani, Gian Domenico GD; Merrill, Joan T JT; Gregersen, Peter K PK; Gilkeson, Gary G GG; Kimberly, Robert P RP; Vyse, Timothy J TJ; Kim, Il I; D'Alfonso, Sandra S; Martin, Javier J; Harley, John B JB; Criswell, Lindsey A LA; , ; , ; , ; , ; , ; , ; Wakeland, Edward K EK; Alarcón-Riquelme, Marta E ME; Mohan, Chandra C