Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: TCF19: 722C>T; Pro241Leu; rs2073724
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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: TCF19: 722C>T; P241L; rs2073724
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: TCF19: 722C>T; Pro241Leu
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
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: TCF19: P241L; rs2073724
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Nature Communications
Emdin, Connor A CA; Khera, Amit V AV; Chaffin, Mark M; Klarin, Derek D; Natarajan, Pradeep P; Aragam, Krishna K; Haas, Mary M; Bick, Alexander A; Zekavat, Seyedeh M SM; Nomura, Akihiro A; Ardissino, Diego D; Wilson, James G JG; Schunkert, Heribert H; McPherson, Ruth R; Watkins, Hugh H; Elosua, Roberto R; Bown, Matthew J MJ; Samani, Nilesh J NJ; Baber, Usman U; Erdmann, Jeanette J; Gupta, Namrata N; Danesh, John J; Chasman, Daniel D; Ridker, Paul P; Denny, Joshua J; Bastarache, Lisa L; Lichtman, Judith H JH; D'Onofrio, Gail G; Mattera, Jennifer J; Spertus, John A JA; Sheu, Wayne H-H WH; Taylor, Kent D KD; Psaty, Bruce M BM; Rich, Stephen S SS; Post, Wendy W; Rotter, Jerome I JI; Chen, Yii-Der Ida YI; Krumholz, Harlan H; Saleheen, Danish D; Gabriel, Stacey S; Kathiresan, Sekar S
Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
Human Molecular Genetics
Permuth, Jennifer B JB; Pirie, Ailith A; Ann Chen, Y Y; Lin, Hui-Yi HY; Reid, Brett M BM; Chen, Zhihua Z; Monteiro, Alvaro A; Dennis, Joe J; Mendoza-Fandino, Gustavo G; , ; , ; Anton-Culver, Hoda H; Bandera, Elisa V EV; Bisogna, Maria M; Brinton, Louise L; Brooks-Wilson, Angela A; Carney, Michael E ME; Chenevix-Trench, Georgia G; Cook, Linda S LS; Cramer, Daniel W DW; Cunningham, Julie M JM; Cybulski, Cezary C; D'Aloisio, Aimee A AA; Anne Doherty, Jennifer J; Earp, Madalene M; Edwards, Robert P RP; Fridley, Brooke L BL; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Goodman, Marc T MT; Gronwald, Jacek J; Hogdall, Estrid E; Iversen, Edwin S ES; Jakubowska, Anna A; Jensen, Allan A; Karlan, Beth Y BY; Kelemen, Linda E LE; Kjaer, Suzanne K SK; Kraft, Peter P; Le, Nhu D ND; Levine, Douglas A DA; Lissowska, Jolanta J; Lubinski, Jan J; Matsuo, Keitaro K; Menon, Usha U; Modugno, Rosemary R; Moysich, Kirsten B KB; Nakanishi, Toru T; Ness, Roberta B RB; Olson, Sara S; Orlow, Irene I; Pearce, Celeste L CL; Pejovic, Tanja T; Poole, Elizabeth M EM; Ramus, Susan J SJ; Anne Rossing, Mary M; Sandler, Dale P DP; Shu, Xiao-Ou XO; Song, Honglin H; Taylor, Jack A JA; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Tworoger, Shelley S SS; Webb, Penelope M PM; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Winham, Stacey S; Woo, Yin-Ling YL; Wu, Anna H AH; Yang, Hannah H; Zheng, Wei W; Ziogas, Argyrios A; Phelan, Catherine M CM; Schildkraut, Joellen M JM; Berchuck, Andrew A; Goode, Ellen L EL; Pharoah, Paul D P PD; Sellers, Thomas A TA; ,
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: TCF19: P241L; rs2073724