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: RNF207: N573S; rs709209
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: RNF207: 1718A>G; N573S; rs709209
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: RNF207: 1718A>G; Asn573Ser
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: RNF207: N573S; rs709209
Genome-Wide Association Study of Apparent Treatment-Resistant Hypertension in the CHARGE Consortium: The CHARGE Pharmacogenetics Working Group.
American Journal Of Hypertension
Irvin, Marguerite R MR; Sitlani, Colleen M CM; Floyd, James S JS; Psaty, Bruce M BM; Bis, Joshua C JC; Wiggins, Kerri L KL; Whitsel, Eric A EA; Sturmer, Til T; Stewart, James J; Raffield, Laura L; Sun, Fangui F; Liu, Ching-Ti CT; Xu, Hanfei H; Cupples, Adrienne L AL; Tanner, Rikki M RM; Rossing, Peter P; Smith, Albert A; Zilhão, Nuno R NR; Launer, Lenore J LJ; Noordam, Raymond R; Rotter, Jerome I JI; Yao, Jie J; Li, Xiaohui X; Guo, Xiuqing X; Limdi, Nita N; Sundaresan, Aishwarya A; Lange, Leslie L; Correa, Adolfo A; Stott, David J DJ; Ford, Ian I; Jukema, J Wouter JW; Gudnason, Vilmundur V; Mook-Kanamori, Dennis O DO; Trompet, Stella S; Palmas, Walter W; Warren, Helen R HR; Hellwege, Jacklyn N JN; Giri, Ayush A; O'donnell, Christopher C; Hung, Adriana M AM; Edwards, Todd L TL; Ahluwalia, Tarunveer S TS; Arnett, Donna K DK; Avery, Christy L CL
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: RNF207: N573S; rs709209
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
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: RNF207: N573S; rs709209
ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.
Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
Discovery of novel heart rate-associated loci using the Exome Chip.
Human Molecular Genetics
van den Berg, Marten E ME; Warren, Helen R HR; Cabrera, Claudia P CP; Verweij, Niek N; Mifsud, Borbala B; Haessler, Jeffrey J; Bihlmeyer, Nathan A NA; Fu, Yi-Ping YP; Weiss, Stefan S; Lin, Henry J HJ; Grarup, Niels N; Li-Gao, Ruifang R; Pistis, Giorgio G; Shah, Nabi N; Brody, Jennifer A JA; Müller-Nurasyid, Martina M; Lin, Honghuang H; Mei, Hao H; Smith, Albert V AV; Lyytikäinen, Leo-Pekka LP; Hall, Leanne M LM; van Setten, Jessica J; Trompet, Stella S; Prins, Bram P BP; Isaacs, Aaron A; Radmanesh, Farid F; Marten, Jonathan J; Entwistle, Aiman A; Kors, Jan A JA; Silva, Claudia T CT; Alonso, Alvaro A; Bis, Joshua C JC; de Boer, Rudolf R; de Haan, Hugoline G HG; de Mutsert, Renée R; Dedoussis, George G; Dominiczak, Anna F AF; Doney, Alex S F ASF; Ellinor, Patrick T PT; Eppinga, Ruben N RN; Felix, Stephan B SB; Guo, Xiuqing X; Hagemeijer, Yanick Y; Hansen, Torben T; Harris, Tamara B TB; Heckbert, Susan R SR; Huang, Paul L PL; Hwang, Shih-Jen SJ; Kähönen, Mika M; Kanters, Jørgen K JK; Kolcic, Ivana I; Launer, Lenore J LJ; Li, Man M; Yao, Jie J; Linneberg, Allan A; Liu, Simin S; Macfarlane, Peter W PW; Mangino, Massimo M; Morris, Andrew D AD; Mulas, Antonella A; Murray, Alison D AD; Nelson, Christopher P CP; Orrú, Marco M; Padmanabhan, Sandosh S; Peters, Annette A; Porteous, David J DJ; Poulter, Neil N; Psaty, Bruce M BM; Qi, Lihong L; Raitakari, Olli T OT; Rivadeneira, Fernando F; Roselli, Carolina C; Rudan, Igor I; Sattar, Naveed N; Sever, Peter P; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Spector, Timothy D TD; Stanton, Alice V AV; Stirrups, Kathleen E KE; Taylor, Kent D KD; Tobin, Martin D MD; Uitterlinden, André A; Vaartjes, Ilonca I; Hoes, Arno W AW; van der Meer, Peter P; Völker, Uwe U; Waldenberger, Melanie M; Xie, Zhijun Z; Zoledziewska, Magdalena M; Tinker, Andrew A; Polasek, Ozren O; Rosand, Jonathan J; Jamshidi, Yalda Y; van Duijn, Cornelia M CM; Zeggini, Eleftheria E; Jukema, J Wouter JW; Asselbergs, Folkert W FW; Samani, Nilesh J NJ; Lehtimäki, Terho T; Gudnason, Vilmundur V; Wilson, James J; Lubitz, Steven A SA; Kääb, Stefan S; Sotoodehnia, Nona N; Caulfield, Mark J MJ; Palmer, Colin N A CNA; Sanna, Serena S; Mook-Kanamori, Dennis O DO; Deloukas, Panos P; Pedersen, Oluf O; Rotter, Jerome I JI; Dörr, Marcus M; O'Donnell, Chris J CJ; Hayward, Caroline C; Arking, Dan E DE; Kooperberg, Charles C; van der Harst, Pim P; Eijgelsheim, Mark M; Stricker, Bruno H BH; Munroe, Patricia B PB
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Nature Genetics
Surendran, Praveen P; Drenos, Fotios F; Young, Robin R; Warren, Helen H; Cook, James P JP; Manning, Alisa K AK; Grarup, Niels N; Sim, Xueling X; Barnes, Daniel R DR; Witkowska, Kate K; Staley, James R JR; Tragante, Vinicius V; Tukiainen, Taru T; Yaghootkar, Hanieh H; Masca, Nicholas N; Freitag, Daniel F DF; Ferreira, Teresa T; Giannakopoulou, Olga O; Tinker, Andrew A; Harakalova, Magdalena M; Mihailov, Evelin E; Liu, Chunyu C; Kraja, Aldi T AT; Fallgaard Nielsen, Sune S; Rasheed, Asif A; Samuel, Maria M; Zhao, Wei W; Bonnycastle, Lori L LL; Jackson, Anne U AU; Narisu, Narisu N; Swift, Amy J AJ; Southam, Lorraine L; Marten, Jonathan J; Huyghe, Jeroen R JR; Stančáková, Alena A; Fava, Cristiano C; Ohlsson, Therese T; Matchan, Angela A; Stirrups, Kathleen E KE; Bork-Jensen, Jette J; Gjesing, Anette P AP; Kontto, Jukka J; Perola, Markus M; Shaw-Hawkins, Susan S; Havulinna, Aki S AS; Zhang, He H; Donnelly, Louise A LA; Groves, Christopher J CJ; Rayner, N William NW; Neville, Matt J MJ; Robertson, Neil R NR; Yiorkas, Andrianos M AM; Herzig, Karl-Heinz KH; Kajantie, Eero E; Zhang, Weihua W; Willems, Sara M SM; Lannfelt, Lars L; Malerba, Giovanni G; Soranzo, Nicole N; Trabetti, Elisabetta E; Verweij, Niek N; Evangelou, Evangelos E; Moayyeri, Alireza A; Vergnaud, Anne-Claire AC; Nelson, Christopher P CP; Poveda, Alaitz A; Varga, Tibor V TV; Caslake, Muriel M; de Craen, Anton Jm AJ; Trompet, Stella S; Luan, Jian'an J; Scott, Robert A RA; Harris, Sarah E SE; Liewald, David Cm DC; Marioni, Riccardo R; Menni, Cristina C; Farmaki, Aliki-Eleni AE; Hallmans, Göran G; Renström, Frida F; Huffman, Jennifer E JE; Hassinen, Maija M; Burgess, Stephen S; Vasan, Ramachandran S RS; Felix, Janine F JF; , ; Uria-Nickelsen, Maria M; Malarstig, Anders A; Reily, Dermot F DF; Hoek, Maarten M; Vogt, Thomas T; Lin, Honghuang H; Lieb, Wolfgang W; , ; Traylor, Matthew M; Markus, Hugh F HF; , ; Highland, Heather M HM; Justice, Anne E AE; Marouli, Eirini E; , ; Lindström, Jaana J; Uusitupa, Matti M; Komulainen, Pirjo P; Lakka, Timo A TA; Rauramaa, Rainer R; Polasek, Ozren O; Rudan, Igor I; Rolandsson, Olov O; Franks, Paul W PW; Dedoussis, George G; Spector, Timothy D TD; , ; Jousilahti, Pekka P; Männistö, Satu S; Deary, Ian J IJ; Starr, John M JM; Langenberg, Claudia C; Wareham, Nick J NJ; Brown, Morris J MJ; Dominiczak, Anna F AF; Connell, John M JM; Jukema, J Wouter JW; Sattar, Naveed N; Ford, Ian I; Packard, Chris J CJ; Esko, Tõnu T; Mägi, Reedik R; Metspalu, Andres A; de Boer, Rudolf A RA; van der Meer, Peter P; van der Harst, Pim P; , ; Gambaro, Giovanni G; Ingelsson, Erik E; Lind, Lars L; de Bakker, Paul Iw PI; Numans, Mattijs E ME; Brandslund, Ivan I; Christensen, Cramer C; Petersen, Eva Rb ER; Korpi-Hyövälti, Eeva E; Oksa, Heikki H; Chambers, John C JC; Kooner, Jaspal S JS; Blakemore, Alexandra If AI; Franks, Steve S; Jarvelin, Marjo-Riitta MR; Husemoen, Lise L LL; Linneberg, Allan A; Skaaby, Tea T; Thuesen, Betina B; Karpe, Fredrik F; Tuomilehto, Jaakko J; Doney, Alex Sf AS; Morris, Andrew D AD; Palmer, Colin Na CN; Holmen, Oddgeir Lingaas OL; Hveem, Kristian K; Willer, Cristen J CJ; Tuomi, Tiinamaija T; Groop, Leif L; Käräjämäki, AnneMari A; Palotie, Aarno A; Ripatti, Samuli S; Salomaa, Veikko V; Alam, Dewan S DS; Shafi Majumder, Abdulla Al AA; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; McCarthy, Mark I MI; Poulter, Neil N; Stanton, Alice V AV; Sever, Peter P; Amouyel, Philippe P; Arveiler, Dominique D; Blankenberg, Stefan S; Ferrières, Jean J; Kee, Frank F; Kuulasmaa, Kari K; Müller-Nurasyid, Martina M; Veronesi, Giovanni G; Virtamo, Jarmo J; Deloukas, Panos P; , ; Elliott, Paul P; , ; Zeggini, Eleftheria E; Kathiresan, Sekar S; Melander, Olle O; Kuusisto, Johanna J; Laakso, Markku M; Padmanabhan, Sandosh S; Porteous, David D; Hayward, Caroline C; Scotland, Generation G; Collins, Francis S FS; Mohlke, Karen L KL; Hansen, Torben T; Pedersen, Oluf O; Boehnke, Michael M; Stringham, Heather M HM; , ; Frossard, Philippe P; Newton-Cheh, Christopher C; , ; Tobin, Martin D MD; Nordestgaard, Børge Grønne BG; , ; , ; , ; , ; Caulfield, Mark J MJ; Mahajan, Anubha A; Morris, Andrew P AP; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Saleheen, Danish D; Asselbergs, Folkert W FW; Lindgren, Cecilia M CM; Danesh, John J; Wain, Louise V LV; Butterworth, Adam S AS; Howson, Joanna Mm JM; Munroe, Patricia B PB
Publication Date: 2016-10
Variant appearance in text: RNF207: N573S; rs709209
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: RNF207: N573S; rs709209
Clonal relationships between lobular carcinoma in situ and other breast malignancies.
Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
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: RNF207: N573S; rs709209
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09
Variant appearance in text: RNF207: N573S; rs709209
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: RNF207: N573S; rs709209
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
Journal Of Human Genetics
Ansar, Muhammad M; Lee, Kwanghyuk K; Naqvi, Syed Kamran-Ul-Hassan SK; Andrade, Paula B PB; Basit, Sulman S; Santos-Cortez, Regie Lyn P RL; Ahmad, Wasim W; Leal, Suzanne M SM
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Nature Genetics
Pfeufer, Arne A; Sanna, Serena S; Arking, Dan E DE; Müller, Martina M; Gateva, Vesela V; Fuchsberger, Christian C; Ehret, Georg B GB; Orrú, Marco M; Pattaro, Cristian C; Köttgen, Anna A; Perz, Siegfried S; Usala, Gianluca G; Barbalic, Maja M; Li, Man M; Pütz, Benno B; Scuteri, Angelo A; Prineas, Ronald J RJ; Sinner, Moritz F MF; Gieger, Christian C; Najjar, Samer S SS; Kao, W H Linda WH; Mühleisen, Thomas W TW; Dei, Mariano M; Happle, Christine C; Möhlenkamp, Stefan S; Crisponi, Laura L; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Naitza, Silvia S; Steinbeck, Gerhard G; Marroni, Fabio F; Hicks, Andrew A AA; Lakatta, Edward E; Müller-Myhsok, Bertram B; Pramstaller, Peter P PP; Wichmann, H-Erich HE; Schlessinger, David D; Boerwinkle, Eric E; Meitinger, Thomas T; Uda, Manuela M; Coresh, Josef J; Kääb, Stefan S; Abecasis, Gonçalo R GR; Chakravarti, Aravinda A
Publication Date: 2009-04
Variant appearance in text: RNF207: N573S; rs709209