Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: WFS1: 1367G>A; Arg456His
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: WFS1: R456H; rs1801208
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Nature Communications
Weston, Kellan P KP; Gao, Xiaoyi X; Zhao, Jinghan J; Kim, Kwang-Soo KS; Maloney, Susan E SE; Gotoff, Jill J; Parikh, Sumit S; Leu, Yen-Chen YC; Wu, Kuen-Phon KP; Shinawi, Marwan M; Steimel, Joshua P JP; Harrison, Joseph S JS; Yi, Jason J JJ
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Nature Communications
Weston, Kellan P KP; Gao, Xiaoyi X; Zhao, Jinghan J; Kim, Kwang-Soo KS; Maloney, Susan E SE; Gotoff, Jill J; Parikh, Sumit S; Leu, Yen-Chen YC; Wu, Kuen-Phon KP; Shinawi, Marwan M; Steimel, Joshua P JP; Harrison, Joseph S JS; Yi, Jason J JJ
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
Molecular Medicine Reports
Glotov, Oleg S OS; Serebryakova, Elena A EA; Turkunova, Mariia E ME; Efimova, Olga A OA; Glotov, Andrey S AS; Barbitoff, Yury A YA; Nasykhova, Yulia A YA; Predeus, Alexander V AV; Polev, Dmitrii E DE; Fedyakov, Mikhail A MA; Polyakova, Irina V IV; Ivashchenko, Tatyana E TE; Shved, Natalia Y NY; Shabanova, Elena S ES; Tiselko, Alena V AV; Romanova, Olga V OV; Sarana, Andrey M AM; Pendina, Anna A AA; Scherbak, Sergey G SG; Musina, Ekaterina V EV; Petrovskaia-Kaminskaia, Anastasiia V AV; Lonishin, Liubov R LR; Ditkovskaya, Liliya V LV; Zhelenina, Liudmila А LА; Tyrtova, Ludmila V LV; Berseneva, Olga S OS; Skitchenko, Rostislav K RK; Suspitsin, Evgenii N EN; Bashnina, Elena B EB; Baranov, Vladislav S VS
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Nature
Flannick, Jason J; Mercader, Josep M JM; Fuchsberger, Christian C; Udler, Miriam S MS; Mahajan, Anubha A; Wessel, Jennifer J; Teslovich, Tanya M TM; Caulkins, Lizz L; Koesterer, Ryan R; Barajas-Olmos, Francisco F; Blackwell, Thomas W TW; Boerwinkle, Eric E; Brody, Jennifer A JA; Centeno-Cruz, Federico F; Chen, Ling L; Chen, Siying S; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; Cortes, Maria M; DeFronzo, Ralph A RA; Dolan, Lawrence L; Drews, Kimberly L KL; Elliott, Amanda A; Floyd, James S JS; Gabriel, Stacey S; Garay-Sevilla, Maria Eugenia ME; García-Ortiz, Humberto H; Gross, Myron M; Han, Sohee S; Heard-Costa, Nancy L NL; Jackson, Anne U AU; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kelsey, Megan M; Kim, Bong-Jo BJ; Koistinen, Heikki A HA; Kuusisto, Johanna J; Leader, Joseph B JB; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jianjun J; Lyssenko, Valeriya V; Manning, Alisa K AK; Marcketta, Anthony A; Malacara-Hernandez, Juan Manuel JM; Martínez-Hernández, Angélica A; Matsuo, Karen K; Mayer-Davis, Elizabeth E; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morrison, Alanna C AC; Ndungu, Anne A; Ng, Maggie C Y MCY; O'Dushlaine, Colm C; Payne, Anthony J AJ; Pihoker, Catherine C; , ; Post, Wendy S WS; Preuss, Michael M; Psaty, Bruce M BM; Vasan, Ramachandran S RS; Rayner, N William NW; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Robertson, Neil R NR; Santoro, Nicola N; Schurmann, Claudia C; So, Wing Yee WY; Soberón, Xavier X; Stringham, Heather M HM; Strom, Tim M TM; Tam, Claudia H T CHT; Thameem, Farook F; Tomlinson, Brian B; Torres, Jason M JM; Tracy, Russell P RP; van Dam, Rob M RM; Vujkovic, Marijana M; Wang, Shuai S; Welch, Ryan P RP; Witte, Daniel R DR; Wong, Tien-Yin TY; Atzmon, Gil G; Barzilai, Nir N; Blangero, John J; Bonnycastle, Lori L LL; Bowden, Donald W DW; Chambers, John C JC; Chan, Edmund E; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Collins, Francis S FS; de Vries, Paul S PS; Duggirala, Ravindranath R; Glaser, Benjamin B; Gonzalez, Clicerio C; Gonzalez, Ma Elena ME; Groop, Leif L; Kooner, Jaspal Singh JS; Kwak, Soo Heon SH; Laakso, Markku M; Lehman, Donna M DM; Nilsson, Peter P; Spector, Timothy D TD; Tai, E Shyong ES; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Wilson, James G JG; Aguilar-Salinas, Carlos A CA; Bottinger, Erwin E; Burke, Brian B; Carey, David J DJ; Chan, Juliana C N JCN; Dupuis, Josée J; Frossard, Philippe P; Heckbert, Susan R SR; Hwang, Mi Yeong MY; Kim, Young Jin YJ; Kirchner, H Lester HL; Lee, Jong-Young JY; Lee, Juyoung J; Loos, Ruth J F RJF; Ma, Ronald C W RCW; Morris, Andrew D AD; O'Donnell, Christopher J CJ; Palmer, Colin N A CNA; Pankow, James J; Park, Kyong Soo KS; Rasheed, Asif A; Saleheen, Danish D; Sim, Xueling X; Small, Kerrin S KS; Teo, Yik Ying YY; Haiman, Christopher C; Hanis, Craig L CL; Henderson, Brian E BE; Orozco, Lorena L; Tusié-Luna, Teresa T; Dewey, Frederick E FE; Baras, Aris A; Gieger, Christian C; Meitinger, Thomas T; Strauch, Konstantin K; Lange, Leslie L; Grarup, Niels N; Hansen, Torben T; Pedersen, Oluf O; Zeitler, Philip P; Dabelea, Dana D; Abecasis, Goncalo G; Bell, Graeme I GI; Cox, Nancy J NJ; Seielstad, Mark M; Sladek, Rob R; Meigs, James B JB; Rich, Steve S SS; Rotter, Jerome I JI; , ; , ; , ; , ; , ; , ; , ; , ; , ; Altshuler, David D; Burtt, Noël P NP; Scott, Laura J LJ; Morris, Andrew P AP; Florez, Jose C JC; McCarthy, Mark I MI; Boehnke, Michael M
Publication Date: 2019-06
Variant appearance in text: WFS1: Arg456His; rs1801208
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: WFS1: R456H; rs1801208
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.
Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.
American Journal Of Human Genetics
Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, Michał M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Brain : A Journal Of Neurology
Pyle, Angela A; Smertenko, Tania T; Bargiela, David D; Griffin, Helen H; Duff, Jennifer J; Appleton, Marie M; Douroudis, Konstantinos K; Pfeffer, Gerald G; Santibanez-Koref, Mauro M; Eglon, Gail G; Yu-Wai-Man, Patrick P; Ramesh, Venkateswaran V; Horvath, Rita R; Chinnery, Patrick F PF
Publication Date: 2015-02
Variant appearance in text: WFS1: 1367G>A; Arg456His
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: WFS1: R456H; rs1801208
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: WFS1: R456H; rs1801208
Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
Diabetes
Bonnycastle, Lori L LL; Chines, Peter S PS; Hara, Takashi T; Huyghe, Jeroen R JR; Swift, Amy J AJ; Heikinheimo, Pirkko P; Mahadevan, Jana J; Peltonen, Sirkku S; Huopio, Hanna H; Nuutila, Pirjo P; Narisu, Narisu N; Goldfeder, Rachel L RL; Stitzel, Michael L ML; Lu, Simin S; Boehnke, Michael M; Urano, Fumihiko F; Collins, Francis S FS; Laakso, Markku M
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
American Journal Of Human Genetics
Saxena, Richa R; Elbers, Clara C CC; Guo, Yiran Y; Peter, Inga I; Gaunt, Tom R TR; Mega, Jessica L JL; Lanktree, Matthew B MB; Tare, Archana A; Castillo, Berta Almoguera BA; Li, Yun R YR; Johnson, Toby T; Bruinenberg, Marcel M; Gilbert-Diamond, Diane D; Rajagopalan, Ramakrishnan R; Voight, Benjamin F BF; Balasubramanyam, Ashok A; Barnard, John J; Bauer, Florianne F; Baumert, Jens J; Bhangale, Tushar T; Böhm, Bernhard O BO; Braund, Peter S PS; Burton, Paul R PR; Chandrupatla, Hareesh R HR; Clarke, Robert R; Cooper-DeHoff, Rhonda M RM; Crook, Errol D ED; Davey-Smith, George G; Day, Ian N IN; de Boer, Anthonius A; de Groot, Mark C H MC; Drenos, Fotios F; Ferguson, Jane J; Fox, Caroline S CS; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Gilhuijs-Pederson, Lisa A LA; Glessner, Joseph T JT; Goel, Anuj A; Gong, Yan Y; Grant, Struan F A SF; Grobbee, Diederick E DE; Hastie, Claire C; Humphries, Steve E SE; Kim, Cecilia E CE; Kivimaki, Mika M; Kleber, Marcus M; Meisinger, Christa C; Kumari, Meena M; Langaee, Taimour Y TY; Lawlor, Debbie A DA; Li, Mingyao M; Lobmeyer, Maximilian T MT; Maitland-van der Zee, Anke-Hilse AH; Meijs, Matthijs F L MF; Molony, Cliona M CM; Morrow, David A DA; Murugesan, Gurunathan G; Musani, Solomon K SK; Nelson, Christopher P CP; Newhouse, Stephen J SJ; O'Connell, Jeffery R JR; Padmanabhan, Sandosh S; Palmen, Jutta J; Patel, Sanjey R SR; Pepine, Carl J CJ; Pettinger, Mary M; Price, Thomas S TS; Rafelt, Suzanne S; Ranchalis, Jane J; Rasheed, Asif A; Rosenthal, Elisabeth E; Ruczinski, Ingo I; Shah, Sonia S; Shen, Haiqing H; Silbernagel, Günther G; Smith, Erin N EN; Spijkerman, Annemieke W M AW; Stanton, Alice A; Steffes, Michael W MW; Thorand, Barbara B; Trip, Mieke M; van der Harst, Pim P; van der A, Daphne L DL; van Iperen, Erik P A EP; van Setten, Jessica J; van Vliet-Ostaptchouk, Jana V JV; Verweij, Niek N; Wolffenbuttel, Bruce H R BH; Young, Taylor T; Zafarmand, M Hadi MH; Zmuda, Joseph M JM; , ; , ; Boehnke, Michael M; Altshuler, David D; McCarthy, Mark M; Kao, W H Linda WH; Pankow, James S JS; Cappola, Thomas P TP; Sever, Peter P; Poulter, Neil N; Caulfield, Mark M; Dominiczak, Anna A; Shields, Denis C DC; Bhatt, Deepak L DL; Bhatt, Deepak D; Zhang, Li L; Curtis, Sean P SP; Danesh, John J; Casas, Juan P JP; van der Schouw, Yvonne T YT; Onland-Moret, N Charlotte NC; Doevendans, Pieter A PA; Dorn, Gerald W GW; Farrall, Martin M; FitzGerald, Garret A GA; Hamsten, Anders A; Hegele, Robert R; Hingorani, Aroon D AD; Hofker, Marten H MH; Huggins, Gordon S GS; Illig, Thomas T; Jarvik, Gail P GP; Johnson, Julie A JA; Klungel, Olaf H OH; Knowler, William C WC; Koenig, Wolfgang W; März, Winfried W; Meigs, James B JB; Melander, Olle O; Munroe, Patricia B PB; Mitchell, Braxton D BD; Bielinski, Susan J SJ; Rader, Daniel J DJ; Reilly, Muredach P MP; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Samani, Nilesh J NJ; Schadt, Eric E EE; Shuldiner, Alan R AR; Silverstein, Roy R; Kottke-Marchant, Kandice K; Talmud, Philippa J PJ; Watkins, Hugh H; Asselbergs, Folkert W FW; Asselbergs, Folkert F; de Bakker, Paul I W PI; McCaffery, Jeanne J; Wijmenga, Cisca C; Sabatine, Marc S MS; Wilson, James G JG; Reiner, Alex A; Bowden, Donald W DW; Hakonarson, Hakon H; Siscovick, David S DS; Keating, Brendan J BJ
Publication Date: 2012-03-09
Variant appearance in text: WFS1: R456H; rs1801208
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.
Diabetes
Fawcett, Katherine A KA; Wheeler, Eleanor E; Morris, Andrew P AP; Ricketts, Sally L SL; Hallmans, Göran G; Rolandsson, Olov O; Daly, Allan A; Wasson, Jon J; Permutt, Alan A; Hattersley, Andrew T AT; Glaser, Benjamin B; Franks, Paul W PW; McCarthy, Mark I MI; Wareham, Nicholas J NJ; Sandhu, Manjinder S MS; Barroso, Inês I
Publication Date: 2010-03
Variant appearance in text: WFS1: R456H; rs1801208
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
Human Molecular Genetics
Bespalova, I N IN; Van Camp, G G; Bom, S J SJ; Brown, D J DJ; Cryns, K K; DeWan, A T AT; Erson, A E AE; Flothmann, K K; Kunst, H P HP; Kurnool, P P; Sivakumaran, T A TA; Cremers, C W CW; Leal, S M SM; Burmeister, M M; Lesperance, M M MM