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
Mutation profiling in eight cases of vagal paragangliomas.
Bmc Medical Genomics
Kudryavtseva, Anna V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Savvateeva, Maria V MV; Fedorova, Maria S MS; Pudova, Elena A EA; Kobelyatskaya, Anastasiya A AA; Golovyuk, Alexander L AL; Guvatova, Zulfiya G ZG; Razmakhaev, George S GS; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Slavnova, Elena N EN; Poloznikov, Andrey А AА; Polyakov, Andrey P AP; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV
Publication Date: 2020-09-18
Variant appearance in text: KCNG4: V419M; rs140124801
Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit.
Cell Reports
Lee, Michael C MC; Nahorski, Michael S MS; Hockley, James R F JRF; Lu, Van B VB; Ison, Gillian G; Pattison, Luke A LA; Callejo, Gerard G; Stouffer, Kaitlin K; Fletcher, Emily E; Brown, Christopher C; Drissi, Ichrak I; Wheeler, Daniel D; Ernfors, Patrik P; Menon, David D; Reimann, Frank F; Smith, Ewan St John ESJ; Woods, C Geoffrey CG
Publication Date: 2020-07-21
Variant appearance in text: KCNG4: 1255G>A; Val419Met; rs140124801
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: KCNG4: V419M; rs140124801
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Weiss, Karin K; Kruszka, Paul P; Guillen Sacoto, Maria J MJ; Addissie, Yonit A YA; Hadley, Donald W DW; Hadsall, Casey K CK; Stokes, Bethany B; Hu, Ping P; Roessler, Erich E; Solomon, Beth B; Wiggs, Edythe E; Thurm, Audrey A; Hufnagel, Robert B RB; Zein, Wadih M WM; Hahn, Jin S JS; Stashinko, Elaine E; Levey, Eric E; Baldwin, Debbie D; Clegg, Nancy J NJ; Delgado, Mauricio R MR; Muenke, Maximilian M
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
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
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: KCNG4: V419M; rs140124801