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
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: CNNM2: S614S; rs2275271
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.
Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Duarte, Rodrigo R R RRR; Troakes, Claire C; Nolan, Matthew M; Srivastava, Deepak P DP; Murray, Robin M RM; Bray, Nicholas J NJ
White Matter Lesion Progression: Genome-Wide Search for Genetic Influences.
Stroke
Hofer, Edith E; Cavalieri, Margherita M; Bis, Joshua C JC; DeCarli, Charles C; Fornage, Myriam M; Sigurdsson, Sigurdur S; Srikanth, Velandai V; Trompet, Stella S; Verhaaren, Benjamin F J BF; Wolf, Christiane C; Yang, Qiong Q; Adams, Hieab H H HH; Amouyel, Philippe P; Beiser, Alexa A; Buckley, Brendan M BM; Callisaya, Michele M; Chauhan, Ganesh G; de Craen, Anton J M AJ; Dufouil, Carole C; van Duijn, Cornelia M CM; Ford, Ian I; Freudenberger, Paul P; Gottesman, Rebecca F RF; Gudnason, Vilmundur V; Heiss, Gerardo G; Hofman, Albert A; Lumley, Thomas T; Martinez, Oliver O; Mazoyer, Bernard B; Moran, Chris C; Niessen, Wiro J WJ; Phan, Thanh T; Psaty, Bruce M BM; Satizabal, Claudia L CL; Sattar, Naveed N; Schilling, Sabrina S; Shibata, Dean K DK; Slagboom, P Eline PE; Smith, Albert A; Stott, David J DJ; Taylor, Kent D KD; Thomson, Russell R; Töglhofer, Anna M AM; Tzourio, Christophe C; van Buchem, Mark M; Wang, Jing J; Westendorp, Rudi G J RG; Windham, B Gwen BG; Vernooij, Meike W MW; Zijdenbos, Alex A; Beare, Richard R; Debette, Stéphanie S; Ikram, M Arfan MA; Jukema, J Wouter JW; Launer, Lenore J LJ; Longstreth, W T WT; Mosley, Thomas H TH; Seshadri, Sudha S; Schmidt, Helena H; Schmidt, Reinhold R; ,
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: CNNM2: S614S; rs2275271