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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: KCNQ1: S546S; rs1057128
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
International Journal Of Molecular Sciences
Cócera-Ortega, Lucía L; Wilders, Ronald R; Kamps, Selina C SC; Fabrizi, Benedetta B; Huber, Irit I; van der Made, Ingeborg I; van den Bout, Anouk A; de Vries, Dylan K DK; Gepstein, Lior L; Verkerk, Arie O AO; Pinto, Yigal M YM; Tijsen, Anke J AJ
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.
Npj Genomic Medicine
Torrado, Mario M; Fernández, Germán G; Ganoza, Christian A CA; Maneiro, Emilia E; García, Diego D; Sonicheva-Paterson, Natalia N; Rosa, Isaac I; Ochoa, Juan Pablo JP; Santomé, Luis L; Vasichkina, Elena E; Monserrat, Lorenzo L
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: KCNQ1: S546S; rs1057128
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.
Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.
Circulation. Arrhythmia And Electrophysiology
Bersell, Kevin K; Montgomery, Jay A JA; Kanagasundram, Arvindh N AN; Campbell, Courtney M CM; Chung, Wendy K WK; Macaya, Daniela D; Konecki, David D; Venter, Eli E; Shoemaker, M Benjamin MB; Roden, Dan M DM
Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Miao M; D'Aniello, Cristina C; Verkerk, Arie O AO; Wrobel, Eva E; Frank, Stefan S; Ward-van Oostwaard, Dorien D; Piccini, Ilaria I; Freund, Christian C; Rao, Jyoti J; Seebohm, Guiscard G; Atsma, Douwe E DE; Schulze-Bahr, Eric E; Mummery, Christine L CL; Greber, Boris B; Bellin, Milena M
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: KCNQ1: S546S; rs1057128
Evaluation of allelic expression of imprinted genes in adult human blood.
Plos One
Frost, Jennifer M JM; Monk, Dave D; Stojilkovic-Mikic, Taita T; Woodfine, Kathryn K; Chitty, Lyn S LS; Murrell, Adele A; Stanier, Philip P; Moore, Gudrun E GE
The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells.
Epigenetics
Frost, Jennifer J; Monk, Dave D; Moschidou, Dafni D; Guillot, Pascale V PV; Stanier, Philip P; Minger, Stephen L SL; Fisk, Nicholas M NM; Moore, Harry D HD; Moore, Gudrun E GE
Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.
Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Lehtinen, Allison B AB; Daniel, Kurt R KR; Shah, Sidharth A SA; Nelson, Matthew R MR; Ziegler, Julie T JT; Freedman, Barry I BI; Carr, J Jeffrey JJ; Herrington, David M DM; Langefeld, Carl D CD; Bowden, Donald W DW
Publication Date: 2009-01
Variant appearance in text: KCNQ1: S546S; rs1057128
Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.
Cancer Biology & Therapy
Tan, Aik Choon AC; Fan, Jian-Bing JB; Karikari, Collins C; Bibikova, Marina M; Garcia, Eliza Wickham EW; Zhou, Lixin L; Barker, David D; Serre, David D; Feldmann, Georg G; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M; Couch, Fergus J FJ; Hudson, Thomas J TJ; Winslow, Raimond L RL; Maitra, Anirban A; Chakravarti, Aravinda A